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Willatt, L. y J. Shipley. "Human Cytogenetic Cancer Markers". Journal of Medical Genetics 35, n.º 4 (1 de abril de 1998): 350. http://dx.doi.org/10.1136/jmg.35.4.350-a.
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Fink, James M. "Human Cytogenetic Cancer Markers". American Journal of Clinical Pathology 109, n.º 4 (1 de abril de 1998): 489.1–489. http://dx.doi.org/10.1093/ajcp/109.4.489.
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Waters, J. "Human Cytogenetic Cancer Markers". Molecular Pathology 50, n.º 5 (1 de octubre de 1997): 279. http://dx.doi.org/10.1136/mp.50.5.279-c.
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Fonatsch, Christa. "Cytogenetic markers in hematoproliferative disorders". Blut 51, n.º 5 (noviembre de 1985): 315–28. http://dx.doi.org/10.1007/bf00320042.
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Lozzio, C. B., L. Lyall y E. Bamberger. "Molecular Cytogenetic Characterization of Chromosome Markers". Genetics in Medicine 1, n.º 2 (febrero de 1999): 68. http://dx.doi.org/10.1097/00125817-199901000-00108.
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Rahesh, Jasmin, Arham Siddiqui, Praveen Tumula y Rahul Chandra. "A rare case of mixed phenotype acute leukemia: acute myeloid leukemia to early T-cell precursor acute lymphoblastic leukemia transformation". Southwest Respiratory and Critical Care Chronicles 10, n.º 44 (22 de julio de 2022): 45–47. http://dx.doi.org/10.12746/swrccc.v10i44.967.
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Mixed phenotypic acute leukemia (MPAL) comprises of both lymphoid and myeloid markers or blasts in a single population. Diagnostic criteria hinges on classifications provided by identifying these lineages based on cytogenetic markers taken throughout the disease course. We describe an interesting presentation of a patient who had first presented with Acute Myeloid leukemia (AML) but 8 weeks later transformed into Early precursor T cell ALL (ETP-ALL). Cytogenetics were taken throughout the course of the cancer and confirmed the presence of a CD34 precursor cell marker. This transformation and cytogenic markers indicated a pluripotent progenitor cell origin confirming the diagnosis of MAPL. This case highlights a pluripotent progenitor origin with initial presentation as AML (myeloid clone) and later as ALL after initial partial response to AML therapy due to clonal evolution.
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Strand, Jacob J., Terra L. Lasho, Susan M. Schwager, Michelle M. Elliott, Chin-Yang Li y Ayalew Tefferi. "Cytogenetic Profile, JAK2V617F Mutational Status, and Response to Drug Therapy in Myelofibrosis with Myeloid Metaplasia." Blood 106, n.º 11 (16 de noviembre de 2005): 2591. http://dx.doi.org/10.1182/blood.v106.11.2591.2591.
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Abstract Background: One of the utilities of molecular markers in hematological malignancies is their potential to predict response to drug therapy. Accordingly, we inquired about the effect of both cytogenetic profile and JAK2V617F mutational status on drug therapy response in myelofibrosis with myeloid metaplasia (MMM). Methods: Mutation analysis for JAK2V617 was performed in DNA derived from peripheral blood mononuclear cells, granulocytes, or both. Genomic DNA was amplified by PCR and fluorescent dye chemistry sequencing was performed using the same primers used for amplification (Levin et al. Cancer Cell2005;7:387). Abnormal cytogenetic findings were considered to be either favorable (sole 13q- or 20q- abnormalities) or unfavorable (other abnormalities) (Tefferi et al. BJH2001;113:763). Results: i. Patients and treatment: A total of 69 patients with MMM (median age 62 years, range 38–75; 47 males) received the following drugs as first-line therapy for either anemia or symptomatic splenomegaly; erythropoietin (Epo) alone or in combination with hydroxyurea (n=25), hydroxyurea alone (HU; n=17), interferon alpha (IFN; n=11), combination of thalidomide and prednisone (ThalPred; n=7), androgen preparations (Andro; n=5), and etanercept (n=4). ii. Results of cytogenetic studies and JAK2 mutation screening: Cytogenetic findings were abnormal in 35 patients (51%); favorable in 9 and unfavorable in 26. JAK2V617 mutation analysis revealed wild-type allele in 31 patients (45%) and either heterozygous (n=31) or homozygous (n=7) mutation in the remaining 38 patients (55%). iii. Correlation of response to cytogenetic/molecular markers: Overall, 17 patients (25%) achieved either a major (n=8) or minor (n=9) response in anemia from treatment with one of the aforementioned drugs. Regardless of either JAK2V617 mutational status or cytogenetic profile, treatment-induced responses in anemia were poor for IFN (0%) and HU (12%). In contrast, the best anemia responses were documented for ThalPred (57%), Andro (40%), and Epo-based therapy (32%). Among the 25 patients that received Epo-based therapy, all 3 patients with favorable cytogenetic abnormalities achieved major responses in anemia whereas such responses were seen in none of the 9 patients with unfavorable cytogenetic abnormalities and only 1 of 13 patients with normal cytogenetics (p=0.004). Furthermore, 3 of the 4 major responders were heterozygous for JAK2V617 and one carried the wild-type allele. In contrast, none of the 3 JAK2V617 homozygotes showed any type of response but all 3 also displayed unfavorable cytogenetics. None of the 7 ThalPred-treated patients carried favorable cytogenetics and yet 3 achieved major responses including one with unfavorable cytogenetics. JAK2V617 mutational status was heterozygous in 1 and wild-type in the other two. There were no major responses among the 5 Andro-treated patients despite the presence of favorable cytogenetic abnormalities in 2 patients. In order to investigate the relationship between cytogenetic profile and JAK2V617 mutational status further, we referred to an expanded database of 116 patients and found the incidence of unfavorable cytogenetics to be higher in JAK2V617 homozygotes compared to non-homozygotes (57% vs. 31%; p=0.16) Conclusion: The current study suggests clustering of favorable cytogenetic abnormalities in MMM with anemia response to Epo therapy and unfavorable cytogenetic abnormalities with homozygosity for JAK2V617 mutation.
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Goes, Caio Augusto Gomes, Sandro Natal Daniel, Lucas Henrique Piva, George Shigueki Yasui, Roberto Ferreira Artoni, Diogo Teruo Hashimoto, Fausto Foresti y Fabio Porto-Foresti. "Cytogenetic markers as a tool for characterization of hybrids of Astyanax Baird & Girard, 1854 and Hyphessobrycon Eigenmann, 1907". Comparative Cytogenetics 14, n.º 2 (27 de mayo de 2020): 231–42. http://dx.doi.org/10.3897/compcytogen.v14i2.49513.
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Astyanax Baird et Girard, 1854, is one of the largest genera in the family Characidae and comprises 177 valid species. This genus has been the focus of cytogenetic studies primarily owing to the presence of B chromosomes and high karyotypic diversity among different populations. The intense genetic variability in Astyanax is one of the factors responsible for the occurrence of species complexes, which are groups (1) with certain difficulties in establishing common genetic pools or (2) belonging to different cryptic species. To evaluate cytogenetic marker inheritance and the possibility of the identification of these hybrids, this study aimed to describe cytogenetic hybrids from three strains of species of the genera Astyanax and Hyphessobrycon Eigenmann, 1908. A. lacustris Lütken, 1875, A. schubarti Britski, 1964, A. fasciatus Cuvier, 1819, and H. anisitsi Eigenmann, 1907 were used to generate three hybrid lineages. The diploid number, heterochromatin sites, and ribosomal genes (18S and 5S rDNA) of the parental strains and the hybrids were analyzed. The results indicated that the three hybrid lineages had cytogenetic markers of both parents, presenting Mendelian inheritance. However, differences in distribution of heterochromatic blocks were observed between the hybrids and the parent strains. Our results allowed the identification of the hybrid strains based on the cytogenetic markers applied, reinforcing the efficiency of cytogenetic markers as tools for identification and indicating that such events may increase the karyotypic diversity in the genera Astyanax and Hyphessobrycon.
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Goes, Caio Augusto Gomes, Sandro Natal Daniel, Lucas Henrique Piva, George Shigueki Yasui, Roberto Ferreira Artoni, Diogo Teruo Hashimoto, Fausto Foresti y Fábio Porto-Foresti. "Corrigenda: Cytogenetic markers as a tool for characterization of hybrids of Astyanax Baird & Girard, 1854 and Hyphessobrycon Eigenmann, 1907. Comparative Cytogenetics 14(2): 231–242. https://doi.org/10.3897/CompCytogen.v14i2.49513". Comparative Cytogenetics 14, n.º 4 (29 de diciembre de 2020): 639–43. http://dx.doi.org/10.3897/compcytogen.v14i4.56080.
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Astyanax Baird et Girard, 1854, is one of the largest genera in the family Characidae and comprises 177 valid species. This genus has been the focus of cytogenetic studies primarily owing to the presence of B chromosomes and high karyotypic diversity among different populations. The intense genetic variability in Astyanax is one of the factors responsible for the occurrence of species complexes, which are groups (1) with certain difficulties in establishing common genetic pools or (2) belonging to different cryptic species. To evaluate cytogenetic marker inheritance and the possibility of the identification of these hybrids, this study aimed to describe cytogenetic hybrids from three strains of species of the genera Astyanax and Hyphessobrycon Eigenmann, 1908. A. lacustris Lütken, 1875, A. schubarti Britski, 1964, A. fasciatus Cuvier, 1819, and H. anisitsi Eigenmann, 1907 were used to generate three hybrid lineages. The diploid number, heterochromatin sites, and ribosomal genes (18S and 5S rDNA) of the parental strains and the hybrids were analyzed. The results indicated that the three hybrid lineages had cytogenetic markers of both parents, presenting Mendelian inheritance. However, differences in distribution of heterochromatic blocks were observed between the hybrids and the parent strains. Our results allowed the identification of the hybrid strains based on the cytogenetic markers applied, reinforcing the efficiency of cytogenetic markers as tools for identification and indicating that such events may increase the karyotypic diversity in the genera Astyanax and Hyphessobrycon.
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Mendoza, Mayra N., Terje Raudsepp, Manuel J. More, Gustavo A. Gutiérrez y F. Abel Ponce de León. "Cytogenetic Mapping of 35 New Markers in the Alpaca (Vicugna pacos)". Genes 11, n.º 5 (8 de mayo de 2020): 522. http://dx.doi.org/10.3390/genes11050522.
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Alpaca is a camelid species of broad economic, biological and biomedical interest, and an essential part of the cultural and historical heritage of Peru. Recently, efforts have been made to improve knowledge of the alpaca genome, and its genetics and cytogenetics, to develop molecular tools for selection and breeding. Here, we report cytogenetic mapping of 35 new markers to 19 alpaca autosomes and the X chromosome. Twenty-eight markers represent alpaca SNPs, of which 17 are located inside or near protein-coding genes, two are in ncRNA genes and nine are intergenic. The remaining seven markers correspond to candidate genes for fiber characteristics (BMP4, COL1A2, GLI1, SFRP4), coat color (TYR) and development (CHD7, PAX7). The results take the tally of cytogenetically mapped markers in alpaca to 281, covering all 36 autosomes and the sex chromosomes. The new map assignments overall agree with human–camelid conserved synteny data, except for mapping BMP4 to VPA3, suggesting a hitherto unknown homology with HSA14. The findings validate, refine and correct the current alpaca assembly VicPac3.1 by anchoring unassigned sequence scaffolds, and ordering and orienting assigned scaffolds. The study contributes to the improvement in the alpaca reference genome and advances camelid molecular cytogenetics.
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Sutherland, G. R. y J. F. Mattei. "Report of the committee on cytogenetic markers". Cytogenetic and Genome Research 46, n.º 1-4 (1987): 316–24. http://dx.doi.org/10.1159/000132482.
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Sutherl, G. R. y D. H. Ledbetter. "Report of the committee on cytogenetic markers". Cytogenetic and Genome Research 49, n.º 1-3 (1988): 221–23. http://dx.doi.org/10.1159/000132666.
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Sutherland, G. R. y D. H. Ledbetter. "Report of the committee on cytogenetic markers". Cytogenetic and Genome Research 51, n.º 1-4 (1989): 452–58. http://dx.doi.org/10.1159/000132804.
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Gödde-Salz, Elisabeth. "Cytogenetic markers in allogeneic bone marrow transplantation". Cancer Genetics and Cytogenetics 20, n.º 3-4 (febrero de 1986): 293–99. http://dx.doi.org/10.1016/0165-4608(86)90086-5.
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Reimann-Berg, N., J. Bullerdiek, H. Escobar y I. Nolte. "Chromosome analyses in dogs". Tierärztliche Praxis Ausgabe K: Kleintiere / Heimtiere 40, n.º 03 (2012): 191–96. http://dx.doi.org/10.1055/s-0038-1623638.
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SummaryCytogenetics is the study of normal and abnormal chromosomes. Every species is characterized by a given number of chromosomes that can be recognized by their specific shape. The chromosomes are arranged according to standard classification schemes for the respective species. While pre-and postnatal chromosome analyses investigate the constitutional karyotype, tumor cytogenetics is focused on the detection of clonal acquired, tumor-associated chromosome aberrations. Cytogenetic investigations in dogs are of great value especially for breeders dealing with fertility problems within their pedigrees, for veterinarians and last but not least for the dog owners. Dogs and humans share a variety of genetic diseases, including cancer. Thus, the dog has become an increasingly important model for genetic diseases. However, cytogenetic analyses of canine cells are complicated by the complex karyotype of the dog. Only just 15 years ago, a standard classification scheme for the complete canine karyotype was established. For chromosome analyses of canine cells the same steps of chromosome preparation are used as in human cytogenetics.There are few reports about cytogenetic changes in non-neoplastic cells, involving predominantly the sex chromosomes. Cytogenetic analyses of different entities of canine tumors revealed that, comparable to human tumors, tumors of the dog are often characterized by clonal chromosome aberrations, which might be used as diagnostic and prognostic markers. The integration of modern techniques (molecular genetic approaches, adaptive computer programs) will facilitate and complete conventional cytogenetic studies. However, conventional cytogenetics is still non-replaceable.
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Kuiper, Rowan, Martin H. Van Vliet, Erik H. van Beers, Annemiek Broijl, George Mulligan, Hervé Avet-Loiseau, Walter Gregory et al. "Prediction of High and Low-Risk Multiple Myeloma Based on the EMC92 Gene Expression Signature and the International Staging System". Blood 124, n.º 21 (6 de diciembre de 2014): 3358. http://dx.doi.org/10.1182/blood.v124.21.3358.3358.
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Abstract Introduction: The variable survival of multiple myeloma patients requires solid prognostic markers. It is unclear how currently used markers relate to each other. Here, ISS, cytogenetics and gene expression profiling (GEP) were combined to find novel risk stratifications in a discovery/validation setting. Next, novel combinations were compared with the currently existing markers. Methods: The following datasets were used: HOVON-65/GMMG-HD4, UAMS-TT2, UAMS-TT3, MRC-IX, APEX and IFM (total number of patients: 4720). In total, 20 markers were evaluated, including cytogenetic markers (deletions of 17p (del17p) and 13q (del13q), gain of 1q (add1q) and translocations t(4;14), t(11;14), t(14;16) and t(14;20)), GEP markers (EMC92, UAMS70, UAMS17, UAMS80, MRC-IX-6, IFM15, HM19 and GPI50) and ISS. In addition, the combination of del17p, t(4;14) and ISS (Avet-Loiseau et al., Leukemia, 27:711-717; 2013) and the combination of del17p, t(4;14) and add1q (Broyl et al., Blood, 121: 624-627, 2013) were included. Reevaluation of markers was performed by Cox regression analysis stratified for cohort combined with the likelihood-ratio test. As a result, cytogenetic markers t(11;14), t(14;16) and t(14;20) were excluded. Thus, 17 markers were analyzed in the combination analysis (number of marker pairs: 136). This resulted in 24 combinations after validation. The Akaike information criterion (AIC) was used to rank the 41 markers (24 novel combinations and 17 existing markers). Importantly, to avoid training bias, training data were excluded when testing markers originally developed using those data (i.e. GEP markers and FISH/ISS). Results: Reevaluation of existing markers in relation to overall survival (OS) demonstrated solid performance of poor-risk cytogenetic markers del17p, del13q, t(4;14) and add1q, but strikingly not for t(11;14), which is thought to predict for favorable outcome. The hazard ratios and p-values were 2.3 (p<1x10-15; del17p), 1.7 (p<1x10-15; del13q), 2.2 (p<1x10-15; t(4;14)), 2.0 (p<1x10-15; add1q) and 0.9 (p=0.5; t(11;14)). Top performing GEP markers EMC92 and UAMS17 demonstrated good performance with hazard ratios and p-values of 2.8 (p<1x10-15) and 3.0 (p<1x10-15), respectively. In the subsequent pair-wise combination analysis, ISS demonstrated to be a valuable partner to both GEP and cytogenetic markers (Figure). Ranking all combinations as well as current markers showed that the ISS-GEP combinations consistently rank at the top. The EMC92-ISS combination was among the strongest predictors for OS, resulting in a four group risk stratification. In a pooled data analysis, the median survival was 24, 47 and 61 months and median not reached, for the highest-risk to the lowest-risk group, respectively. The highest risk group amounted to 17% and the lowest risk group to 38% of patients. Other high scoring combinations, ranking 2nd-5th, respectively, were ISS-UAMS17, ISS-HM19, ISS-UAMS80 and ISS-UAMS70. The compound FISH/ISS marker was in 7th position and ISS itself ranked 22nd out of 41. In general combinations of markers tended to perform better than univariate markers. The best univariate marker was EMC92 (14th out of 41). Conclusions: Both GEP and FISH markers are solid prognostic markers, with GEP markers demonstrating better predictions in unbiased comparisons than FISH markers. Prognostic markers can be improved by combining markers, as is evident when considering both existing combinations, such as the FISH/ISS marker proposed by Avet-Loiseau et al., and novel combinations. The EMC92-ISS model is a novel combination which is an improvement compared to currently used markers, offering a robust 4-group risk stratification based on biology and clinical parameters. This model is a good candidate to be validated in a clinical trial in order to stratify patients for treatment. Figure. Figure. Ranking of novel combinations and existing markers. This analysis represents the validation data, using OS.Markers are vertically ordered by rank score indicated on the horizontal axis. The rank score is based on the AIC and was determined for two markers using their largest possible intersecting subset of known data. After combining all markers (or combinations) with all others, the scores were calculated as 1 minus the proportion of observations for which a marker had the lowest AIC. In order to estimate uncertainty, the score was estimated in a bootstrapping procedure using 100 cycles. Disclosures Van Vliet: SkylineDX: Employment. van Beers:SkylineDX: Employment. Mulligan:Millennium Pharmaceuticals: Employment. Gregory:Novartis: Research Funding; Schering Health Care Ltd: Research Funding; Pharmion: Research Funding; Celgene: Research Funding; Ortho Biotech: Research Funding. Goldschmidt:Janssen-Cilag: Honoraria, Research Funding, Speakers Bureau; Polyphor: Research Funding; Celgene: Honoraria, Research Funding, Speakers Bureau; Novartis: Honoraria, Research Funding, Speakers Bureau; Chugai: Research Funding, Speakers Bureau; Onyx: Consultancy, Speakers Bureau; Millenium: Consultancy, Speakers Bureau. Lokhorst:Celgene: Honoraria; Johnson-Cilag: Honoraria; Mudipharma: Honoraria. Sonneveld:Celgene: Honoraria, Research Funding; Janssen: Honoraria, Research Funding; Onyx: Honoraria, Research Funding; Millenium: Honoraria, Research Funding.
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Zheng, Liangbiao, Mark Q. Benedict, Anton J. Cornel, Frank H. Collins y Fotis C. Kafatos. "An Integrated Genetic Map of the African Human Malaria Vector Mosquito, Anopheles gambiae". Genetics 143, n.º 2 (1 de junio de 1996): 941–52. http://dx.doi.org/10.1093/genetics/143.2.941.
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Abstract We present a genetic map based on microsatellite polymorphisms for the African human malaria vector, Anopheles gambiae. Polymorphisms in laboratory strains were detected for 89% of the tested microsatellite markers. Genotyping was performed for individual mosquitoes from 13 backcross families that included 679 progeny. Three linkage groups were identified, corresponding to the three chromosomes. We added 22 new markers to the existing X chromosome map, for a total of 46 microsatellite markers spanning a distance of 48.9 cM. The second chromosome has 57 and the third 28 microsatellite markers spanning a distance of 72.4 and 93.7 cM, respectively. The overall average distance between markers is 1.6 cM (or 1.1, 1.2, and 3.2 cM for the X, second, and third chromosomes, respectively). In addition to the 131 microsatellite markers, the current map also includes a biochemical selectable marker, Dieldrin resistance (Dl), on the second chromosome and five visible markers, pink-eye (p) and white (w) on the X, collarless (c) and lunate (lu) on the second, and red-eye (r) on the third. The cytogenetic locations on the nurse cell polytene chromosomes have been determined for 47 markers, making this map an integrated tool for cytogenetic, genetic, and molecular analysis.
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Васильев, С. А. y И. Н. Лебедев. "Cytogenetic and expression markers of individual human radiosensitivity". Nauchno-prakticheskii zhurnal «Medicinskaia genetika», n.º 1() (28 de marzo de 2018): 3–8. http://dx.doi.org/10.25557/2073-7998.2018.01.3-8.
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Воздействие ионизирующего излучения вызывает значительные функциональные изменения в клетках человека, выражающиеся в активации различных сигнальных путей и транскрипционного ответа множества генов. Величина этих изменений вариабельна у разных индивидов, составляя феномен индивидуальной радиочувствительности. В обзоре рассматриваются известные маркеры индивидуальной радиочувствительности человека, начиная от цитогенетических, позволяющих непосредственно оценить эффективность репарации радиационно-индуцированных повреждений ДНК в клетках, до маркеров, выделенных на основании полногеномных и полнотранскриптомных исследований дифференциально экспрессирующихся генов, обусловливающих различные аспекты клеточного и организменного ответа на радиационное воздействие. Exposure to ionizing radiation causes significant functional changes in human cells which lead to activation of various signaling pathways and transcriptional response of many genes. The magnitude of these changes is variable for different individuals, making the phenomenon of individual radiosensitivity. In the review, markers of individual radiosensitivity are described ranging from cytogenetic markers for assessing the efficiency of DNA repair of radiation-induced damage in cells to genome- and transcriptome-wide approaches to identify differentially expressed genes that determine various aspects of response to radiation exposure.
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Henke, R. P. "Cytogenetic Markers of Tumor Progression in Prostatic Carcinoma". European Urology 27, n.º 2 (1995): 10–12. http://dx.doi.org/10.1159/000475218.
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Cruz-Sánchez, F. F., E. Tapia-Campos y R. Barba-Gonzalez. "Importance of molecular cytogenetic markers in plant breeding". Acta Horticulturae, n.º 1288 (agosto de 2020): 167–74. http://dx.doi.org/10.17660/actahortic.2020.1288.25.
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Kutlu, Hüsniye Sevtap, İbrahim Halil Kenger, Rima Çelik Mısırlı, Lale Dönbak y Ahmet Kayraldız. "Effect of Antihistamine Levocetirizine Dihydrochloride on Cytogenetic Markers". Gaziantep Islam Science and Technology University 1, n.º 1 (29 de junio de 2020): 29–35. http://dx.doi.org/10.46871/eams.2020.4.
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Settin, A., M. Al Haggar, T. Al Dosoky, R. Al Baz, Nabil M. Abdelrazik, M. Fouda, S. Aref y Y. Al-Tonbary. "Prognostic cytogenetic markers in childhood acute lymphoblastic leukemia". Indian Journal of Pediatrics 74, n.º 3 (marzo de 2007): 255–63. http://dx.doi.org/10.1007/s12098-007-0040-z.
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Kern, Wolfgang, Daniela Voskova, Claudia Schoch, Wolfgang Hiddemann, Susanne Schnittger y Torsten Haferlach. "Flow Cytometric Characterization of Genetically Defined Subgroups of Chronic Lymphocytic Leukemia: Basis for the Comprehensive Definition of Prognostic Parameters." Blood 104, n.º 11 (16 de noviembre de 2004): 4776. http://dx.doi.org/10.1182/blood.v104.11.4776.4776.
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Abstract Chronic lymphocytic leukemia (CLL) is defined based on cytomorphology and immunophenotype. The most important prognostic parameters are cytogenetic aberrations and the expression of CD38 and ZAP70. We analyzed correlations between immunophenotypic patterns and genetic aberrations in 153 peripheral blood samples from patients with newly diagnosed and untreated CLL. Immunophenotyping was performed applying five-fold staining, a comprehensive panel of antibodies, and CD45-SSC-gating. Genetic aberrations were detected by fluorescence in-situ hybridization using probes targeting ATM for the detection of 11q-, D12Z3 for trisomy 12, D13S319 and D13S25 for 13q-, and p53 for 17p-. As compared to cases without trisomy 12, in cases with trisomy 12 the expression levels were higher for CD22 (66% vs. 34%, p=0.001), CD20 (83% vs. 71%, p=0.034), and FMC7 (28% vs. 7%, p=0.000001). This is in accordance with our finding that higher numbers of prolymphocytes have been found in CLL with trisomy 12. As compared to cases with any cytogenetic aberration, cases with normal cytogenetics had lower expression levels of CD5 (82% vs. 89%, p=0.012) and CD19 (79% vs. 85%, p=0.051). Importantly, there were no significant differences in expression levels of CD38 and ZAP70 between cytogenetically defined subgroups of CLL. Thus, in cases with 11q-, trisomy 12, 13q-, homocygous 13q-, 17p-, and normal cytogenetics CD38 was expressed in 51%, 47%, 37%, 33%, 24%, and 38% and ZAP70 together with cyCD79a was expressed in 17%, 11%, 13%, 13%, 22%, and 15%. These data indicates that, with the exception of trisomy 12, the cytogenetic findings are not reflected by specific immunophenotypic features. In particular, this is true for the prognostically and clinically relevant markers CD38 and ZAP70 the expression of which cannot be deduced from cytogenetics. In a second step, correlations between the expression of CD38 and ZAP70 and other immunophenotypic markers have been analyzed. Cases positive for CD38 (more than 30% positive cells) had lower expression levels of CD19 (78% vs. 87%, p=0.005), CD20 (65% vs. 75%, p=0.023), and CD23 (62% vs. 74%, p=0.005). Cases positive for ZAP70 (more than 20% positive cells with coexpression of cyCD79a) had higher expression levels of CD19 (87% vs. 79%, p=0.011), CD22 (40% vs. 26%, p=0.020), and cyCD79a (75% vs. 59%, p=0.009). These findings are in line with both CD38 and ZAP70 being markers that reflect different biologic backgrounds of CLL which also reveal prognostic information. Taken together, these data strongly suggest that studies evaluating different treatment approaches in CLL should provide a detailed characterization of the analyzed patients including both cytogenetic aberrations and immunophenotypic findings as well as novel genetic markers in order to guarantee the detection of subgroup-specific treatment effects.
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Kuzina, T. V. y A. V. Kuzin. "Use of Oxidative Stress (MDA) Markers and Cytogenetic Markers in the Ecological‐Genetic Monitoring of the Northern Caspian Sea". South of Russia: ecology, development 15, n.º 1 (16 de abril de 2020): 99–106. http://dx.doi.org/10.18470/1992-1098-2020-1-99-106.
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Aim. Assessment and subsequent long‐term dynamic observation of possible negative genetic consequences of the effect of pollutants on certain units of metabolism are important tasks in ecological‐genetic monitoring. Cytogenetic and biochemical biomarkers are used in biomonitoring studies to analyze the genotoxicity of aquatic pollutants. The purpose of the work was to analyse the use of markers of oxidative stress and cytogenetic disorders in goby fish caught at shallow and deep‐water stations of the Northern Caspian Sea in the ecological‐genetic monitoring system. Material and Methods. The study was undertaken on 227 specimens of goby fish by cytogenetic and biochemical analysis. Results. The correlation dependence between erythrocytes with micronuclei and erythrocytes with the quantity of damaged nuclei summarized as R= ‐0.83 (p˂0.05) was shown. The results of correlation analysis between oxidative stress indices and the number of destructive changes in erythrocyte nucleus are presented. Our analysis thus leads us to the conclusion that somatic mutagenesis (micronuclear formation) after exposure to free radicals can be an adaptive response to this stress factor.Conclusion. Analysis leadsus to the conclusion that somatic mutagenesis (formation of micro‐nuclei) after exposure to free radicals can be an adaptive response to stress factor in habitat conditions in areas of liquidated prospecting wells of LUKOIL‐Nizhnevolzhskneft in the Northern Caspian Sea.
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Cabanillas, F., S. Pathak, J. Trujillo, G. Grant, A. Cork, FB Hagemeister, WS Velasquez, P. McLaughlin, J. Redman y R. Katz. "Cytogenetic features of Hodgkin's disease suggest possible origin from a lymphocyte". Blood 71, n.º 6 (1 de junio de 1988): 1615–17. http://dx.doi.org/10.1182/blood.v71.6.1615.1615.
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Abstract Surface marker and gene rearrangement data have supported various hypotheses about the origin of the malignant cell in Hodgkin's disease. Cytogenetic data about this disorder, however, are very scanty. To determine if any chromosomal abnormalities that could add further information to this controversial point are present, we studied tumor samples from 49 patients. Abnormal metaphases were obtained in 18 cases. The most common breakpoints were in 11q23, 14q32, 6q11–21, and 8q22–24. These are common breakpoints in lymphoma and raise the possibility that the malignant cell in Hodgkin's disease may be derived from a lymphocyte. The 11q23 breakpoint is also seen in t(4;11) and t(9;11), which is typical of a type of childhood B-cell acute lymphoblastic leukemia characterized by the presence of aberrant myeloid and monocytic markers. Myeloid and monocytic markers are common in Reed-Sternberg cells.
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Cabanillas, F., S. Pathak, J. Trujillo, G. Grant, A. Cork, FB Hagemeister, WS Velasquez, P. McLaughlin, J. Redman y R. Katz. "Cytogenetic features of Hodgkin's disease suggest possible origin from a lymphocyte". Blood 71, n.º 6 (1 de junio de 1988): 1615–17. http://dx.doi.org/10.1182/blood.v71.6.1615.bloodjournal7161615.
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Surface marker and gene rearrangement data have supported various hypotheses about the origin of the malignant cell in Hodgkin's disease. Cytogenetic data about this disorder, however, are very scanty. To determine if any chromosomal abnormalities that could add further information to this controversial point are present, we studied tumor samples from 49 patients. Abnormal metaphases were obtained in 18 cases. The most common breakpoints were in 11q23, 14q32, 6q11–21, and 8q22–24. These are common breakpoints in lymphoma and raise the possibility that the malignant cell in Hodgkin's disease may be derived from a lymphocyte. The 11q23 breakpoint is also seen in t(4;11) and t(9;11), which is typical of a type of childhood B-cell acute lymphoblastic leukemia characterized by the presence of aberrant myeloid and monocytic markers. Myeloid and monocytic markers are common in Reed-Sternberg cells.
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Tammen, I., H. Hameister, P. D. Thomsen, T. Leeb y B. Brenig. "Cytogenetic localization of genetic markers on porcine chromosome 7q". Animal Genetics 29, n.º 2 (abril de 1998): 144–45. http://dx.doi.org/10.1046/j.1365-2052.1998.00285.x.
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Heerema, Nyla A. "Cytogenetic Abnormalities and Molecular Markers of Acute Lymphoblastic Leukemia". Hematology/Oncology Clinics of North America 4, n.º 4 (agosto de 1990): 795–820. http://dx.doi.org/10.1016/s0889-8588(18)30468-4.
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Fuschiotti, P., R. Armellini, G. Venti, P. Puccetti, L. Romani y M. C. Moretti. "Search for cytogenetic markers in chemically xenogenized murine lymphomas". Pharmacological Research 21, n.º 5 (septiembre de 1989): 667–68. http://dx.doi.org/10.1016/1043-6618(89)90224-7.
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Gale, M. D., P. J. Sharp, S. Chao y C. N. Law. "Applications of genetic markers in cytogenetic manipulation of the wheat genomes". Genome 31, n.º 1 (1 de enero de 1989): 137–42. http://dx.doi.org/10.1139/g89-025.
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A molecular map of wheat, Triticum aestivum, is being developed. Problems associated with the large genome size, the large number of linkage groups, polyploidy, and limited polymorphism at the DNA level are being overcome. In addition to the breeding applications expected from the map, various uses for restriction fragment length polymorphism markers as tools in cytogenetic manipulation of wheat chromosomes and those from related species are being found. These include identification of aneuploid genotypes, added precision in intervarietal chromosome manipulations, tests of chromosome stability, identification of alien chromosomes, and marker-aided introgression of genes of agronomic importance from related species.Key words: wheat, restriction fragment length polymorphism, genetic maps, aneuploidy, alien chromosomes.
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Hussein, Kebede, Animesh D. Pardanani, Daniel van Dyke, Curtis A. Hanson y Ayalew Tefferi. "IPSS-Independent Cytogenetic Risk Categorization in Primary Myelofibrosis." Blood 114, n.º 22 (20 de noviembre de 2009): 2909. http://dx.doi.org/10.1182/blood.v114.22.2909.2909.
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Abstract Abstract 2909 Poster Board II-885 Background: Previous studies have identified sole abnormalities of del(20q) and del(13q) as prognostically favorable cytogenetic markers in primary myelofibrosis (PMF) (Tefferi et al. BJH 2001;113:763). A more recent study (Tam et al. Blood 2009;113:4171) confirmed these findings and suggested additional cytogenetic markers of prognosis. In the current study with larger numbers of informative patients studied at time of diagnosis, we wanted to validate these observations and examine the prognostic interaction between cytogenetic risk categorization and the International Prognostic Scoring System (IPSS). Methods: Patients with cytogenetic information at diagnosis were selected from the Mayo Clinic database of WHO-defined PMF. Specific cytogenetic categories were considered only in the presence of at least 5 informative patients; otherwise, they were included in the category of “other cytogenetic abnormalities”. Follow-up information was updated in July, 2009. Survival curves were prepared by the Kaplan-Meier method and compared by the log-rank test. Cox regression model was used for multivariable analysis. Results: 200 patients were studied (median age, 62 years; 63% males). The IPSS risk distributions were low in 66 patients, intermediate (int)-1 in 64, int-2 in 44 and high in 26. Cytogenetic findings at diagnosis were abnormal in 83 (42%) patients and included sole del(20q) in 21, complex (i.e. 3 or more abnormalities) in 13, sole del(13q) in 8, sole +8 in 7, sole +9 in 6, and other abnormalities in 28 patients. Median survivals in low, int-1, int-2 and high IPSS risk groups were 188, 71, 47 and 26 months, respectively (p < 0.0001). Median survival in patients with sole +9 was not reached and in those with sole del(13q), sole del(20q), normal karyotype, complex abnormalities and sole +8 was 112, 108, 80, 37 and 27 months, respectively, while it was 46 months for patients with other cytogenetic abnormalities (p = 0.01). Accordingly, sole abnormalities of +9, del(20q) and del(13q) were categorized as being favorable (n = 35) and complex abnormalities and sole +8 as unfavorable (n = 20); the respective median survivals were 112 and 34 months (p=0.002; Figure). Multivariable analysis confirmed the IPSS-independent prognostic value of cytogenetic risk categorization and the intra-IPSS risk prognostic distinction was most apparent in the int-1 group: median survival was 35 and 81 months in the presence of unfavorable or favorable cytogenetic markers, respectively (p=0.0009; Figure). Conclusion: The current study identifies sole +9, along with del(13q) and del(20q), as favorable and sole +8, along with complex abnormalities, as unfavorable cytogenetic markers of prognosis in PMF. Cytogenetic risk categorization in PMF has an IPSS-independent prognostic value that is important in patient selection for specific therapy. Disclosures: No relevant conflicts of interest to declare.
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Lukjanová, Eliška y Jana Řepková. "Chromosome and Genome Diversity in the Genus Trifolium (Fabaceae)". Plants 10, n.º 11 (19 de noviembre de 2021): 2518. http://dx.doi.org/10.3390/plants10112518.
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Trifolium L. is an economically important genus that is characterized by variable karyotypes relating to its ploidy level and basic chromosome numbers. The advent of genomic resources combined with molecular cytogenetics provides an opportunity to develop our understanding of plant genomes in general. Here, we summarize the current state of knowledge on Trifolium genomes and chromosomes and review methodologies using molecular markers that have contributed to Trifolium research. We discuss possible future applications of cytogenetic methods in research on the Trifolium genome and chromosomes.
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Haas, OA, P. Bettelheim, W. Schmidmeier, H. Gadner, H. Ludwig, O. Majdic y U. Schulz. "5q- chromosome in acute leukemia with lymphoid morphology and expression of myeloid membrane determinants". Blood 65, n.º 6 (1 de junio de 1985): 1342–48. http://dx.doi.org/10.1182/blood.v65.6.1342.bloodjournal6561342.
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Abstract We present three patients, two children and one adult, with an unusual type of acute leukemia. Whereas the blast cells showed lymphoid morphology with correlating cytochemical staining, immunological phenotyping exhibited a pure myeloid in one patient and a biphenotypic membrane marker profile in the other two patients. Cytogenetic studies revealed a 5q- chromosome as a common marker and additional individual changes. Two of the patients who were treated according to acute lymphoblastic leukemia (ALL) therapy protocols died without remission five and four weeks after diagnosis, respectively. Despite relapsing several times, another patient survived for over eight years. These three patients seem to represent one new subgroup of leukemias that can only be distinguished from typical ALL by both determination of cell surface markers and cytogenetic analysis.
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Meggendorfer, Manja, Tamara Alpermann, Karolina Perglerová, Wolfgang Kern, Susanne Schnittger, Claudia Haferlach y Torsten Haferlach. "Genetic Patterns of Relapsed AML Differ Significantly from First Manifestation and Are Dependent on Cytogenetic Risk Groups at Diagnosis: Results in 175 Patients with Paired Samples". Blood 124, n.º 21 (6 de diciembre de 2014): 1029. http://dx.doi.org/10.1182/blood.v124.21.1029.1029.
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Abstract Introduction: Genetic changes between diagnosis and relapse in AML have not been analyzed comprehensively yet. Especially in the favorable risk group (acute promyelocytic leukemia (APL) with PML-RARA, and core binding factor (CBF) leukemias with CBFB-MYH11 or RUNX1-RUNX1T1) data is scarce. Aim: To investigate genetic patterns in AML with favorable risk cytogenetics at diagnosis and at relapse in comparison to all other AML subtypes. Patients and Methods: We investigated 175 AML patients diagnosed by cytomorphology, immunophenotyping and cytogenetics following WHO criteria both at diagnosis and at relapse (350 samples). Cytogenetic risk stratification followed MRC as favorable, intermediate, and adverse (Grimwade, Blood 2010). 30 patients were diagnosed as APL or CBF leukemia (favorable), while 122 patients were intermediate, and 23 adverse risk. Data on molecular mutations was available for subsets of patients including ASXL1, CEBPA, DNMT3A, EZH2, FLT3-ITD, FLT3-TKD, KIT, IDH1, IDH2, MLL-PTD, NPM1, NRAS, KRAS, RUNX1, TET2, TP53, and WT1. Gene mutations were analyzed by Sanger sequencing, NGS, melting curve analysis, or gene scan. Cytogenetics was available for all 350 samples. Results: Changes in mutational and cytogenetic patterns of APL and CBF leukemias: 28 relapse samples revealed in total 22 gene mutations in 12 genes, with a median number of 0.8 mutations per patient. 7 patients (25%) showed no mutation, 20 (71%) showed 1 mutation, and 1 (4%) had 2 mutations. Most frequently FLT3-ITD was found (n=5), followed by mutations in KIT (n=3), EZH2, FLT3-TKD, NRAS, TET2 (for each n=2), and ASXL1, DNMT3A, IDH1, KRAS, TP53, and WT1(for each n=1). In 17/20 patients with molecular mutations identified either at relapse or primary diagnosis both samples were analyzed for the specific mutation. 22 mutations were present in this subset. Of these 10 (46%) mutations were already detected at primary diagnosis and thus remained stable, while 3/22 (14%) mutations were gained and 9/22 (41%) were lost at relapse. Including patients with no mutation revealed that 13/24 (54%) patients showed an unchanged mutation pattern while 11/24 (46%) gained or lost mutations. The karyotype was stable in 16/30 (53%) cases with favorable cytogenetics, while 14/30 (47%) showed cytogenetic changes: although the main cytogenetic aberration remained unchanged in all relapse samples the latter patients showed either clonal evolution (n=11), clonal regression (n=2) or both (n=1). Changes in mutational and cytogenetic patterns of AML with intermediate risk cytogenetics: In the intermediate risk group (97/122 patients (80%) had normal karyotype) the cytogenetic changes were slightly less frequent with 44/122 (36%). Interestingly, in this group 3 patients occurred with a totally different karyotype at relapse compared to primary diagnosis. In 2 cases, however, the molecular markers remained stable, while in 1 patient also the mutation pattern changed completely. Therefore, the latter one might be a t-AML, while the other two are most likely relapses. The molecular mutation patterns were unstable in this subgroup with 56/94 (60%) patients showing mutational gains as well as losses. Changes in mutational and cytogenetic patterns of AML with adverse cytogenetics: 11/23 patients (48%) showed cytogenetic changes. Also in this group 1 patient might have acquired a t-AML rather than a relapse as suggested by complete changes in cytogenetics and molecular markers. Only 5/18 (26%) showed changes in the mutational pattern at all. Of notice, while in favorable AML mutation patterns changed at relapse more by losses than by gains of mutations, in the intermediate and adverse groups gains of mutations were more frequent. The latter two groups had more mutations already at primary diagnosis and acquired additional mutations mostly in FLT3-ITD but also in the whole spectrum of analyzed genes, particularly in prognostically unfavorable genes such as TP53, ASXL1, RUNX1, DNMT3A, or WT1. Conclusions: 1) In AML with favorable cytogenetics the defining aberrations persist at relapse but changes in karyotype and mutational pattern occur in 47% and 46% of cases. 2) AML with intermediate risk cytogenetics is characterized by instability predominately on the molecular level. 3) AML with adverse cytogenetics shows only few changes in the molecular profile but high karyotype instability. Disclosures Meggendorfer: MLL Munich Leukemia Laboratory: Employment. Alpermann:MLL Munich Leukemia Laboratory: Employment. Perglerová:MLL2 s.r.o.: Employment. Kern:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Schnittger:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership. Haferlach:MLL Munich Leukemia Laboratory: Employment, Equity Ownership.
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Marta, Anatolie, Dmitry Dedukh, Oldřich Bartoš, Zuzana Majtánová y Karel Janko. "Cytogenetic Characterization of Seven Novel satDNA Markers in Two Species of Spined Loaches (Cobitis) and Their Clonal Hybrids". Genes 11, n.º 6 (4 de junio de 2020): 617. http://dx.doi.org/10.3390/genes11060617.
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Interspecific hybridization is a powerful evolutionary force. However, the investigation of hybrids requires the application of methodologies that provide efficient and indubitable identification of both parental subgenomes in hybrid individuals. Repetitive DNA, and especially the satellite DNA sequences (satDNA), can rapidly diverge even between closely related species, hence providing a useful tool for cytogenetic investigations of hybrids. Recent progress in whole-genome sequencing (WGS) offers unprecedented possibilities for the development of new tools for species determination, including identification of species-specific satDNA markers. In this study, we focused on spined loaches (Cobitis, Teleostei), a group of fishes with frequent interspecific hybridization. Using the WGS of one species, C. elongatoides, we identified seven satDNA markers, which were mapped by fluorescence in situ hybridization on mitotic and lampbrush chromosomes of C. elongatoides, C. taenia and their triploid hybrids (C. elongatoides × 2C. taenia). Two of these markers were chromosome-specific in both species, one had centromeric localization in multiple chromosomes and four had variable patterns between tested species. Our study provided a novel set of cytogenetic markers for Cobitis species and demonstrated that NGS-based development of satDNA cytogenetic markers may provide a very efficient and easy tool for the investigation of hybrid genomes, cell ploidy, and karyotype evolution.
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Vicic, Ana, Vedrana Skaro, Petar Projic, Petra Korac, Romana Gjergja-Juraski y Feodora Stipoljev. "Antenatal detection of chromosomal abnormalities combining QF-PCR and cytogenetic analysis". Molecular and experimental biology in medicine 3, n.º 1 (1 de junio de 2020): 34–43. http://dx.doi.org/10.33602/mebm.3.1.6.
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Aim: To compare the diagnostic values and limitations of quantitative fluorescent polymerase chain reaction (QF-PCR) and conventional cytogenetic analysis in prenatal diagnosis of chromosomal abnormalities. Methods: A prospective study included simultaneous QF-PCR and cytogenetic analysis of 133 prenatal samples routinely obtained by amniocentesis or chorionic villus sampling (CVS). Additionally, QF-PCR analysis was performed on 14 tissue samples collected after termination of pregnancy (TOP) for which karyotyping could not be performed due to culture failure. Results: Among 133 analyzed prenatal samples, chromosomal abnormalities were diagnosed in 12 cases (9%), including 10 cases of numerical chromosomal aberrations and two cases with unbalanced structural rearrangements. Nine out of 12 chromosomal abnormalities were also detected with QF-PCR. However, all cases of major aneuploidies were successfully disclosed with QF-PCR, resulting in 100% detection rate for chromosomes 21, 18, 13, X and Y. Using a set of markers specific for chromosomes 21, 18 and 13, QF-PCR analysis of tissues collected after TOP revealed chromosomopathy in 21.4% of cases (two cases of trisomy 18 and one triploidy). A comparison of STR markers confirmed monozygosity in two monochorionic/diamniotic twin pregnancies. Conclusion: QF-PCR has been shown as a rapid and reliable method for prenatal diagnosis of the most common chromosomal aneuploidies, and as an adequate alternative to conventional karyotyping in cases where cytogenetic analysis is not possible due to failure of culturing process. However, conventional cytogenetics still presents a gold standard for the detection of structural aberrations and rare aneuploidies.
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Kroupin, Pavel Yu, Victoria M. Kuznetsova, Ekaterina A. Nikitina, Yury Ts Martirosyan, Gennady I. Karlov y Mikhail G. Divashuk. "Development of new cytogenetic markers for Thinopyrum ponticum (Podp.) Z.-W. Liu & R.-C. Wang". Comparative Cytogenetics 13, n.º 3 (13 de agosto de 2019): 231–43. http://dx.doi.org/10.3897/compcytogen.v13i3.36112.
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Thinopyrum ponticum (Podpěra, 1902) Z.-W. Liu & R.-C.Wang, 1993 is an important polyploid wild perennial Triticeae species that is widely used as a source of valuable genes for wheat but its genomic constitution has long been debated. For its chromosome identification, only a limited set of FISH probes has been used. The development of new cytogenetic markers for Th. ponticum chromosomes is of great importance both for cytogenetic characterization of wheat-wheatgrass hybrids and for fundamental comparative studies of phylogenetic relationships between species. Here, we report on the development of five cytogenetic markers for Th. ponticum based on repetitive satellite DNA of which sequences were selected from the whole genome sequence of Aegilops tauschii Cosson, 1849. Using real-time quantitative PCR we estimated the abundance of the found repeats: P720 and P427 had the highest abundance and P132, P332 and P170 had lower quantity in Th. ponticum genome. Using fluorescence in situ hybridization (FISH) we localized five repeats to different regions of the chromosomes of Th. ponticum. Using reprobing multicolor FISH we colocalized the probes between each other. The distribution of these found repeats in the Triticeae genomes and its usability as cytogenetic markers for chromosomes of Th. ponticum are discussed.
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Wu, Linda, Tao Ran, Jinghua He, Sumeet Panjabi y Xiaoxiao Lu. "Real-world clinical outcomes in patients receiving either ibrutinib or chemo-immunotherapy (CIT) as first-line (1L) treatment for chronic lymphocytic leukemia (CLL) / small lymphocytic lymphoma (SLL): A retrospective analysis." Journal of Clinical Oncology 40, n.º 16_suppl (1 de junio de 2022): e19057-e19057. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e19057.
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e19057 Background: Ibrutinib is an oral, once daily Bruton’s tyrosine kinase inhibitor and is the only targeted treatment that has demonstrated progression-free survival and overall survival in multiple phase 3 trials across age, fitness, and high-risk markers for CLL/SLL. This study examined the trends in genomic testing and compared outcomes of first line (1L) CLL patients treated with ibrutinib or CIT in clinical practice. Methods: The nationwide Flatiron Electronic Health Record-derived de-identified database (03/04/2016-08/31/2021) was used to select patients with CLL/SLL who had ≥2 clinic visits and started 1L therapy with ibrutinib or CIT. Patient baseline characteristics prior to 1L initiation were compared between the two treatment groups. Propensity score-based inverse probability of treatment weighting (IPTW) was used to adjust for baseline differences between treatment groups. Kaplan-Meier (KM) analysis was used to evaluate time to next treatment (TTNT) from 1L initiation. Two subgroup analyses were performed among patients with high-risk cytogenetic markers (deletion 17p, 11q or unmutated IGHV) and those without IGHV testing. Results: Overall, the rate of testing for high-risk markers remain suboptimal, while cytogenetic testing for del17p or del11q improved from 52.3% to 74.3%, coinciding with approval of ibrutinib for del17p in 2014, IGHV testing remains infrequent and low at 37.7%. 1882 patients (61.4%) received 1L ibrutinib monotherapy (mean age 71, median follow-up 26 months), and 1182 (38.6%) received a CIT regimen (mean age 68, median follow-up 33 months). More patients treated with ibrutinib had a known high-risk cytogenetic marker (44% vs. 34%), especially in those with deletion 17p (15% vs. 4%), than those treated with CIT. Ibrutinib-treated patients significantly decreased risk of initiating a subsequent treatment by 51% (Table), the high-risk group by 60%, and those with unknown IGHV status by 49%. Conclusions: Consistent with clinical trial evidence, treatment with ibrutinib among 1L CLL patients resulted in a statistically significantly lower risk of initiating subsequent treatment than those treated with CIT, both overall and in the subgroups of patients with high-risk cytogenetic markers and patients without IGHV testing. Assessment of cytogenetic/molecular risk status for appropriate treatment is vital to optimize clinical outcomes, especially in the novel agent era. Recent IGHV testing in community practice to assess genetic risk in CLL remains suboptimal.[Table: see text]
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Wu, Linda, Tao Ran, Jinghua He, Sumeet Panjabi y Xiaoxiao Lu. "Real-world clinical outcomes in patients receiving either ibrutinib or chemo-immunotherapy (CIT) as first-line (1L) treatment for chronic lymphocytic leukemia (CLL) / small lymphocytic lymphoma (SLL): A retrospective analysis." Journal of Clinical Oncology 40, n.º 16_suppl (1 de junio de 2022): e19057-e19057. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.e19057.
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e19057 Background: Ibrutinib is an oral, once daily Bruton’s tyrosine kinase inhibitor and is the only targeted treatment that has demonstrated progression-free survival and overall survival in multiple phase 3 trials across age, fitness, and high-risk markers for CLL/SLL. This study examined the trends in genomic testing and compared outcomes of first line (1L) CLL patients treated with ibrutinib or CIT in clinical practice. Methods: The nationwide Flatiron Electronic Health Record-derived de-identified database (03/04/2016-08/31/2021) was used to select patients with CLL/SLL who had ≥2 clinic visits and started 1L therapy with ibrutinib or CIT. Patient baseline characteristics prior to 1L initiation were compared between the two treatment groups. Propensity score-based inverse probability of treatment weighting (IPTW) was used to adjust for baseline differences between treatment groups. Kaplan-Meier (KM) analysis was used to evaluate time to next treatment (TTNT) from 1L initiation. Two subgroup analyses were performed among patients with high-risk cytogenetic markers (deletion 17p, 11q or unmutated IGHV) and those without IGHV testing. Results: Overall, the rate of testing for high-risk markers remain suboptimal, while cytogenetic testing for del17p or del11q improved from 52.3% to 74.3%, coinciding with approval of ibrutinib for del17p in 2014, IGHV testing remains infrequent and low at 37.7%. 1882 patients (61.4%) received 1L ibrutinib monotherapy (mean age 71, median follow-up 26 months), and 1182 (38.6%) received a CIT regimen (mean age 68, median follow-up 33 months). More patients treated with ibrutinib had a known high-risk cytogenetic marker (44% vs. 34%), especially in those with deletion 17p (15% vs. 4%), than those treated with CIT. Ibrutinib-treated patients significantly decreased risk of initiating a subsequent treatment by 51% (Table), the high-risk group by 60%, and those with unknown IGHV status by 49%. Conclusions: Consistent with clinical trial evidence, treatment with ibrutinib among 1L CLL patients resulted in a statistically significantly lower risk of initiating subsequent treatment than those treated with CIT, both overall and in the subgroups of patients with high-risk cytogenetic markers and patients without IGHV testing. Assessment of cytogenetic/molecular risk status for appropriate treatment is vital to optimize clinical outcomes, especially in the novel agent era. Recent IGHV testing in community practice to assess genetic risk in CLL remains suboptimal.[Table: see text]
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Blazar, BR, HT Orr, DC Arthur, JH Kersey y AH Filipovich. "Restriction fragment length polymorphisms as markers of engraftment in allogeneic marrow transplantation". Blood 66, n.º 6 (1 de diciembre de 1985): 1436–44. http://dx.doi.org/10.1182/blood.v66.6.1436.1436.
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Abstract We have used DNA hybridization techniques employing restriction fragment length polymorphisms (RFLPs) to quantitate the level of donor cell engraftment in bone marrow transplantation recipients. The genetic origin of the bone marrow cells and various peripheral blood populations was analyzed in 14 patients. We found at least one informative polymorphism for each donor-recipient pair. Additional markers of engraftment included cytogenetic analysis, HLA typing, and red cell typing. By DNA analysis, four patients had complete engraftment, five had partial engraftment, and five had no evidence of donor cell engraftment. In three cases, DNA analysis permitted detection of minor populations (5% to 10%) of donor or host cells. Eight of fourteen patients were evaluable for chimerism posttransplant by cytogenetic analysis. In five cases, cytogenetic results were completely concordant with DNA analyses. In two cases of apparent autologous recovery, as assessed using RFLPs, a small number of cells of donor karyotype was seen. In one other case, a small number of cells of host karyotype was not detected by RFLP studies. HLA typing in three partially engrafted patients was purely either of donor or host type. Red cell typing was discordant with DNA and/or cytogenetic results in four of eight cases. We conclude that DNA analysis at a limited number of informative genetic loci is useful for quantitating the degree of engraftment in multiple populations of nondividing cells following allogeneic bone marrow transplantation.
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Blazar, BR, HT Orr, DC Arthur, JH Kersey y AH Filipovich. "Restriction fragment length polymorphisms as markers of engraftment in allogeneic marrow transplantation". Blood 66, n.º 6 (1 de diciembre de 1985): 1436–44. http://dx.doi.org/10.1182/blood.v66.6.1436.bloodjournal6661436.
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We have used DNA hybridization techniques employing restriction fragment length polymorphisms (RFLPs) to quantitate the level of donor cell engraftment in bone marrow transplantation recipients. The genetic origin of the bone marrow cells and various peripheral blood populations was analyzed in 14 patients. We found at least one informative polymorphism for each donor-recipient pair. Additional markers of engraftment included cytogenetic analysis, HLA typing, and red cell typing. By DNA analysis, four patients had complete engraftment, five had partial engraftment, and five had no evidence of donor cell engraftment. In three cases, DNA analysis permitted detection of minor populations (5% to 10%) of donor or host cells. Eight of fourteen patients were evaluable for chimerism posttransplant by cytogenetic analysis. In five cases, cytogenetic results were completely concordant with DNA analyses. In two cases of apparent autologous recovery, as assessed using RFLPs, a small number of cells of donor karyotype was seen. In one other case, a small number of cells of host karyotype was not detected by RFLP studies. HLA typing in three partially engrafted patients was purely either of donor or host type. Red cell typing was discordant with DNA and/or cytogenetic results in four of eight cases. We conclude that DNA analysis at a limited number of informative genetic loci is useful for quantitating the degree of engraftment in multiple populations of nondividing cells following allogeneic bone marrow transplantation.
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Malysheva, L., T. Sjakste, F. Matzk, M. Röder y M. Ganal. "Molecular cytogenetic analysis of wheatbarley hybrids using genomic in situ hybridization and barley microsatellite markers". Genome 46, n.º 2 (1 de abril de 2003): 314–22. http://dx.doi.org/10.1139/g02-117.
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In the present investigation, genomic in situ hybridization (GISH) and barley microsatellite markers were used to analyse the genome constitution of wheatbarley hybrids from two backcross generations (BC1 and BC2). Two BC1 plants carried 3 and 6 barley chromosomes, respectively, according to GISH data. Additional chromosomal fragments were detected using microsatellites. Five BC2 plants possessed complete barley chromosomes or chromosome segments and six BC2 plants did not preserve barley genetic material. Molecular markers revealed segments of the barley genome with the size of one marker only, which probably resulted from recombination between wheat and barley chromosomes. The screening of backcrossed populations from intergeneric hybrids could be effectively conducted using both genomic in situ hybridization and molecular microsatellite markers. GISH images presented a general overview of the genome constitution of the hybrid plants, while microsatellite analysis revealed the genetic identity of the alien chromosomes and chromosomal segments introgressed. These methods were complementary and provided comprehensive information about the genomic constitution of the plants produced.Key words: wheatbarley hybrids, introgressive hybridization, recombination, molecular markers, genomic in situ hybridization (GISH).
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Kroupin, Pavel, Victoria Kuznetsova, Dmitry Romanov, Alina Kocheshkova, Gennady Karlov, Thi Xuan Dang, Thi Mai L. Khuat et al. "Pipeline for the Rapid Development of Cytogenetic Markers Using Genomic Data of Related Species". Genes 10, n.º 2 (1 de febrero de 2019): 113. http://dx.doi.org/10.3390/genes10020113.
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Repetitive DNA including tandem repeats (TRs) is a significant part of most eukaryotic genomes. TRs include rapidly evolving satellite DNA (satDNA) that can be shared by closely related species, their abundance may be associated with evolutionary divergence, and they have been widely used for chromosome karyotyping using fluorescence in situ hybridization (FISH). The recent progress in the development of whole-genome sequencing and bioinformatics tools enables rapid and cost-effective searches for TRs including satDNA that can be converted into molecular cytogenetic markers. In the case of closely related taxa, the genome sequence of one species (donor) can be used as a base for the development of chromosome markers for related species or genomes (target). Here, we present a pipeline for rapid and high-throughput screening for new satDNA TRs in whole-genome sequencing of the donor genome and the development of chromosome markers based on them that can be applied in the target genome. One of the main peculiarities of the developed pipeline is that preliminary estimation of TR abundance using qPCR and ranking found TRs according to their copy number in the target genome; it facilitates the selection of the most prospective (most abundant) TRs that can be converted into cytogenetic markers. Another feature of our pipeline is the probe preparation for FISH using PCR with primers designed on the aligned TR unit sequences and the genomic DNA of a target species as a template that enables amplification of a whole pool of monomers inherent in the chromosomes of the target species. We demonstrate the efficiency of the developed pipeline by the example of FISH probes developed for A, B, and R subgenome chromosomes of hexaploid triticale (BBAARR) based on a bioinformatics analysis of the D genome of Aegilops tauschii (DD) whole-genome sequence. Our pipeline can be used to develop chromosome markers in closely related species for comparative cytogenetics in evolutionary and breeding studies.
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Trettel, F., P. Malaspina, P. Blasi, C. Jodice, A. Novelletto, G. Sabbadini, L. Veneziano, M. Frontali y L. Terrenato. "Ordering of 44 Genetic Markers in the 6p22 Cytogenetic Band". DNA Sequence 7, n.º 1 (enero de 1996): 51–52. http://dx.doi.org/10.3109/10425179609015648.
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Norppa, Hannu. "Cytogenetic Markers of Susceptibility: Influence of Polymorphic Carcinogen-Metabolizing Enzymes". Environmental Health Perspectives 105 (junio de 1997): 829. http://dx.doi.org/10.2307/3433290.
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Vered, Marilena y Dan Dayan. "Histochemical, immunohistochemical and cytogenetic markers in salivary gland tumor pathology". Future Oncology 3, n.º 1 (febrero de 2007): 49–53. http://dx.doi.org/10.2217/14796694.3.1.49.
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Norppa, H. "Cytogenetic markers of susceptibility: influence of polymorphic carcinogen-metabolizing enzymes." Environmental Health Perspectives 105, suppl 4 (junio de 1997): 829–35. http://dx.doi.org/10.1289/ehp.97105s4829.
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Carda, Jose, Patricia Sousa, Patricia Olim, Emília Magalhães, Luis Rito, Rui Afonso, Braz Luz et al. "Chronic Lymphocytic Leukemia: Evaluation of Cytogenetic Markers as Prognostic Factors". Blood 116, n.º 21 (19 de noviembre de 2010): 4860. http://dx.doi.org/10.1182/blood.v116.21.4860.4860.
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Abstract Abstract 4860 Backgroud: Chronic lymphocytic leukemia (CLL) is one of the most frequent chronic lymphoproliferative disorders in Europe. It is characterized by persistent monoclonal lymphocitosis with localized or generalized lymphadenopathy. Despite the initial clinical presentation, it has a heterogeneous natural history, with the majority of patients living 10–12 years, but with some patients dying rapidly, within 2–3 years of diagnosis. Beside clinical prognostic factors, novel cytogenetic markers are recognized to be useful in predicting disease free and overall survival in CLL. AIMS: In a retrospective study throughout 10 years (1999-2009), we analyzed the clinical and biological presentation and compared the evolution and survival of patients with B-CLL using different cytogenetic markers. METHODS: We identified 112 cases (63 males and 49 females) of B-CLL with cytogenetic study by fluorescence in situ hybridization (FISH). RESULTS: Amongst 112 patients, the male to female (M/F) ratio was 1.3:1 and the median age was 70 (43-96) years. At diagnosis, the median lymphocyte count was 15.5 G/L (5.4-173). Fifty five patients (49%) had lymphadenopathies and seventeen (15%) had splenomegaly and/or hepatomegaly at presentation. By the revised Rai staging system seventy (63%) patients were included in low risk group, thirty (27%) in intermediate risk group and twelve (10%) in high risk group. The expression of ZAP-70 and CD38 by flow citometry was performed in 75 patients and revealed 13 (17%) patients CD38+ and 12 (16%) ZAP70+. The study of chromosomal aberrations with FISH showed thirty six patients (32%) with no abnormality, thirty six (32%) with isolated 13q deletion, fifteen (14%) with 12 trisomy, twelve (11%) with 11q deletion and thirteen (11%) with 17p deletion. Forty (36%) patients showed progressive disease in a median time of sixteen months (0-120), thirteen with 13qdel, seven with 17pdel and five with 12 trisomy. After treatment two patients showed progressive disease, six maintain a stable disease and thirty two obtain a remission, nine in complete remission. The Overall Survival (OS) at ten years was 70%. By the revised Rai staging system the OS at ten years was 80% for low risk, 70% for intermediate risk and all the high risk patients died during follow up. The OS at five years for the del13q-, 12 trisomy, del11q- and del17p- was 90%, 88%, 58% and 60%, respectively. SUMMARY: Chronic lymphocytic leukemia is currently considered a chronic disorder with a favourable outcome, but with a variable evolution to progressive disease. This retrospective study allowed the characterization of patient with CLL in our department and the acknowledgement that our results are quite similar to the published data. Disclosures: No relevant conflicts of interest to declare.
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Shubber, E. K., Z. MT Jaffer, A. Abdul-Kareem y M. I. AL-Tememi. "Cytogenetic Studies on Goat Blood Lymphocytes:Cell Cycling". Journal of Biotechnology Research Center 3, n.º 1 (1 de enero de 2009): 3–14. http://dx.doi.org/10.24126/jobrc.2009.3.1.32.
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Peripheral blood lymphocytes from goats (local breed) were cultivated in RPMI-1640 medium containing 15µg/ml of BudR 20 µg/ml of PHA for different times (12, 24, 36, 48, 60, 72 and 96( hrs. to determination the cell cycle duration. Blastogenesis was appeared post first 12hr of cultivation followed by first mitoses post 24 hrs. of culture initiation. The second and third cell cycling lasted 22 and 21 hrs, respectively. Effects of 6-thioguanine, methotrexate , colchicine and tamoxifen on cell cycle progression were investigated. Goat cells were found to be resistant to tamoxifen and MTX and sensitive to 6 TG and colchicine, which could be use as genetic markers to chick cellular genome integrity. Priming of goat blood lymphocytes was achieved by treating the blood with PHA for 24hr. Such treatment increased the in vitro growing period of derived lymphoblasts with short cycling time. However, PHA was found to be a promoting factor for initiation of blastogenesis and cell divisions in goat blood lymphoblasts. These techniques: Genetic markers, cytogenetic analysis cell cycling and lymphoblast explantation are crucial processes for nuclear transplantation processes.
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Aljurf, Mahmoud, Hala Abalkhail, Fahed Almhareb, Naeem A. Chaudhri, Claudia Ulrike Walter, Mohammed Toulimat, Hazzaa Al Zahrani et al. "FLT3 Internal Tandem Duplication and Kinase Domain Mutations Remain Poor Prognostic Markers in Intermediate Cytogenetic AML After Treatment with Transplant in First Remission". Blood 118, n.º 21 (18 de noviembre de 2011): 4627. http://dx.doi.org/10.1182/blood.v118.21.4627.4627.
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Abstract Abstract 4627 The internal tandem duplication (ITD) and tyrosin kinase domain (TKD) D835 mutation in the Fms-like tyrosine kinase receptor-3 gene (FLT3) are perhaps the most studied prognostic molecular markers in acute myeloid leukemia (AML). However most of the studies have been in patients treated with standard intensive chemotherapy. The prognostic significance of FLT3, especially the TKD D835, in AML patients treated with intensive chemotherapy followed by allogeneic hematopoietic stem cell transplantation (HSCT) is not well studied.We studied the prognostic value of both FLT3-ITD and FLT3-D535 mutations in patients with AML treated with HSCT. Methods: Samples from 87 patients with AML were analyzed for FLT3 ITD and D835 mutations using fragment length analysis for ITD and restriction enzyme digestion followed by fragment length analysis for D835. All patients were diagnosed with AML, treated with intensive chemotherapy, then HSCT. They included 66 (76%) patients with intermediate cytogenetic abnormalities and 21 (24%) patients with adverse cytogenetics. Results: ITD mutation was detected in 18 patients (21%) patients, while the D835 mutation detected in 6 patients (7%). FLT3-ITD was associated with significantly shorter overall survival (OS) when all patients are considered (P=0.006). When only patients with intermediate cytogenetic abnormalities treated with HSCT in their first complete response (CR1) are considered, FLT3-ITD was significantly associated with poor OS (P=0.001). Event free survival (EFS) was also significantly shorter in patients with the FLT3-ITD (P=0.005). Similarly, D835 mutation was associated with significantly shorter OS (P=0.002) in this group of patients. Surprisingly, in patients with poor cytogenetic abnormalities, patients with FLT3-ITD had significantly longer survival (P=0.05), although the number is too small. Conclusion: Our data suggests that FLT3 mutations, both ITD and D835, remain poor prognostic markers in patients with AML treated with intensive chemotherapy followed by HSCT, but only in patients with intermediate risk cytogenetic abnormalities and this may not be relevant in patients with high-risk AML. Disclosures: No relevant conflicts of interest to declare.