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Articoli di riviste sul tema "Profil mutationnel"

Autore: Grafiati

Pubblicato: 25 gennaio 2025

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1

Rached, H. A., E. Desmedt, C. Templier, P. Lepesant e L. Mortier. "Variabilité intra-individuelle du profil mutationnel d’un mélanome métastatique". Annales de Dermatologie et de Vénéréologie 143, n. 12 (dicembre 2016): S374—S375. http://dx.doi.org/10.1016/j.annder.2016.09.599.

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Szablewski, V., F. Poizat, R. Garrel, J. Solassol e V. Costes-Martineau. "Profil mutationnel de KRAS et KRAS dans les ITAC : une relation clinicopathologique ?" Annales de Pathologie 32, n. 5 (novembre 2012): S117—S118. http://dx.doi.org/10.1016/j.annpat.2012.09.113.

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3

Wylomanski, S., M. Denis, S. Theoleyre, A. C. Knol, R. Bouquin, L. Peuvrel, M. Saint-Jean, B. Dréno e G. Quereux. "Profil mutationnel de mélanomes de la sphère génitale féminine : résultats d’une cohorte monocentrique". Annales de Dermatologie et de Vénéréologie 144, n. 12 (dicembre 2017): S312—S313. http://dx.doi.org/10.1016/j.annder.2017.09.526.

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Fallet, V., e M. Wislez. "Profil mutationnel des carcinomes sarcomatoïdes pulmonaires par une technique de génotypage à haut débit". Revue des Maladies Respiratoires 31 (gennaio 2014): A197. http://dx.doi.org/10.1016/j.rmr.2013.10.137.

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Fallet, V., e M. Wislez. "Profil mutationnel des carcinomes sarcomatoïdes pulmonaires primitifs par une technique de génotypage à haut débit". Revue des Maladies Respiratoires 31, n. 9 (novembre 2014): 879–80. http://dx.doi.org/10.1016/j.rmr.2014.06.011.

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6

Boussemart, L., C. Mateus, N. Kamsu-Kom, E. Routier, M. Thomas, G. Tomasic, L. Lacroix, S. Vagner e C. Robert. "Comparaison du profil mutationnel somatique de métastases de mélanome avant traitement et après résistance au vémurafénib". Annales de Dermatologie et de Vénéréologie 141, n. 12 (dicembre 2014): S283. http://dx.doi.org/10.1016/j.annder.2014.09.132.

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Veronese, Lauren, Florence Nguyen Khac, Hedi Bensaber, Tournilhac Olivier, Bruno Pereira, Louis Thomas Dannus, Romain Guieze e Andrei Tchirkov. "Étude GFCH/FILO du profil mutationnel des leucémies lymphoïdes chroniques et autres syndromes lymphoprolifératifs B avec translocation IG::BCL3". Morphologie 107, n. 359 (dicembre 2023): 100638. http://dx.doi.org/10.1016/j.morpho.2023.100638.

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8

Schneider, P., R. Porcher, C. Pagès, I. Sidina, L. da Meda, M. Battistella, M. Viguier et al. "Étude de l’incidence du profil mutationnel des mélanomes sur la survie globale chez des patients avec un mélanome stade IV". Annales de Dermatologie et de Vénéréologie 139, n. 12 (dicembre 2012): B115. http://dx.doi.org/10.1016/j.annder.2012.10.145.

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9

Passet, M., C. Lepelletier, M. D. Vignon-Pennamen, P. Hirsch, M. Battistella, P. Duriez, M. Bagot, F. Chasset, E. Clappier e J. D. Bouaziz. "L’infiltrat neutrophilique cutané des syndromes de Sweet associés aux hémopathies myéloïdes a le même profil mutationnel que la cellule myéloïde tumorale". Annales de Dermatologie et de Vénéréologie 146, n. 12 (dicembre 2019): A75. http://dx.doi.org/10.1016/j.annder.2019.09.061.

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10

König, Anna-Katharina, Stefan Fritz, Michael Volkmar, Atanasios Tampakis, Ji Youm, Matthias Gaida, Jens Werner et al. "Mutational profile in IPMN subtypes". Pancreatology 17, n. 3 (luglio 2017): S25. http://dx.doi.org/10.1016/j.pan.2017.05.079.

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Lee, Christopher Seungkyu. "Mutational Profile of Vitreoretinal Lymphoma". Journal of Retina 8, n. 1 (30 maggio 2023): 1–5. http://dx.doi.org/10.21561/jor.2023.8.1.1.

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Papanicolau-Sengos, Antonios, Sarabjot Pabla, Grace K. Dy, Marc S. Ernstoff, Igor Puzanov, Jeffrey M. Conroy, Mary Nesline et al. "Correlation of lung cancer mutational profile with immune profile." Journal of Clinical Oncology 36, n. 5_suppl (10 febbraio 2018): 146. http://dx.doi.org/10.1200/jco.2018.36.5_suppl.146.

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146 Background: The association between neoplasm mutational and immune profiles has not been well-characterized. Methods: We collected 26 lung cancer formalin-fixed paraffin embedded (FFPE) samples which had been tested with a comprehensive mutation profile to detect clinically actionable mutations, and a comprehensive immune gene expression profile, which interrogates PD-L1 immunohistochemistry (IHC), PD-L1/2 copy number, CD3/CD8 IHC, microsatellite instability status, mutational burden, and the expression profile of 54 immune-related genes. The ranking of gene expression and 7 immune phenotypes was compared to a reference population. Six cases were positive for an activating KRAS mutation and 2 cases were positive for an activating EGFR mutation. Principal component analysis was performed to determine the association of EGFR/KRAS mutations with the measured immune landscape. Results: The proinflammatory immune phenotype was significantly correlated with KRAS mutation positive samples (first principal component, R squared = 0.53, p < 0.05). Similarly, CD38 expression was correlated with KRAS mutation (R squared = 0.47, p < 0.05). CD137, KLRD1, and DDX58 expression was significantly correlated with EGFR positive samples (second principal component, R squared = 0.47, 0.37, 0.35 respectively, p < 0.05 in all cases). Unsupervised hierarchical clustering of the samples resulted in three distinct clusters, EGFR positive, KRAS positive, and EGFR negative/KRAS negative. In the KRAS positive cluster, high proinflammatory immune phenotype, VISTA moderate expression, presence of CD3/CD8 tumor infiltrating lymphocytes (TILs), and low KLRD1 were overrepresented (p < 0.05), while low VISTA and proinflammatory moderate immune phenotype were significantly underrepresented (p < 0.05). In the EGFR positive cluster DDX58 high, very low TILs, and very low CD8 were significantly (p < 0.05) overrepresented. Conclusions: KRAS mutation positivity is significantly associated with a proinflammatrory immune phenotype and CD3/CD8 infiltration. KRAS positive, EGFR positive, and KRAS/EGFR negative clusters are immunophenotypically distinct. A higher number of specimens is necessary to verify and expand these findings.

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Heikinheimo, K., J. M. Huhtala, A. Thiel, K. J. Kurppa, H. Heikinheimo, M. Kovac, C. Kragelund et al. "The Mutational Profile of Unicystic Ameloblastoma". Journal of Dental Research 98, n. 1 (14 settembre 2018): 54–60. http://dx.doi.org/10.1177/0022034518798810.

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BRAF V600E is the most common mutation in conventional ameloblastoma (AM) of the mandible. In contrast, maxillary AMs appear to harbor more frequently RAS, FGFR2, or SMO mutations. Unicystic ameloblastoma (UAM) is considered a less aggressive variant of ameloblastoma, amenable to more conservative treatment, and classified as a distinct entity. The aim of this study was to characterize the mutation profile of UAM ( n = 39) and to compare it to conventional AM ( n = 39). The associations between mutation status and recurrence probability were also analyzed. In the mandible, 94% of UAMs (29/31, including 8/8 luminal, 6/8 intraluminal, and 15/15 mural subtypes) and 74% of AMs (28/38) revealed BRAF V600E mutations. Among the BRAF wild-type cases, 1 UAM showed a missense SMO mutation (p.L412F), whereas 2 NRAS (p.Q61R), 2 HRAS (p.Q61R), and 2 FGFR2 (p.C383R) activating mutations were identified in AM. Of the 3 maxillary UAMs, only 1 revealed a BRAF V600E mutation. Taken together, our findings demonstrate high frequency of activating BRAF V600E mutations in both UAM and AM of the mandible. In maxillary UAMs, the BRAF V600E mutation prevalence appears to be lower as was shown for AM previously. It could therefore be argued that UAM and AM are part of the spectrum of the same disease. AMs without BRAF V600E mutations were associated with an increased rate of local recurrence ( P = 0.0003), which might indicate that routine mutation testing also has an impact on prognosis.

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Sorigué, Marc, Josep-Maria Ribera, Olga García, Marta Cabezón, Patricia Vélez, Silvia Marcé, Blanca Xicoy et al. "Highly variable mutational profile ofASXL1in myelofibrosis". European Journal of Haematology 97, n. 4 (19 gennaio 2016): 331–35. http://dx.doi.org/10.1111/ejh.12731.

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15

Karow, A., R. Nienhold, P. Lundberg, E. Peroni, M. C. Putti, M. L. Randi e R. C. Skoda. "Mutational profile of childhood myeloproliferative neoplasms". Leukemia 29, n. 12 (30 luglio 2015): 2407–9. http://dx.doi.org/10.1038/leu.2015.205.

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Choi, Yun Mi, Jinyeong Lim, Min Ji Jeon, Yu-Mi Lee, Tae-Yon Sung, Eun-Gyoung Hong, Ji-Young Lee et al. "Mutational Profile of Metastatic Pheochromocytoma and Paraganglioma". Journal of the Endocrine Society 5, Supplement_1 (1 maggio 2021): A71. http://dx.doi.org/10.1210/jendso/bvab048.143.

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Abstract Background: In pheochromocytoma and paraganglioma (PPGL), germline and somatic mutations in one of the known susceptibility genes are present in about 60% of tumors. However, the genetic events that drive the malignant progression of the disease are yet poorly understood. We aimed to evaluate the mutational profiles of metastatic PPGLs by targeted next-generation sequencing (NGS) to characterize the genetic events in metastatic PPGLs. Methods: Among the previously reported metastatic PPGL series from Asan Medical Center (AMC), Seoul, Korea, fifteen patients with available formalin-fixed, paraffin embedded (FFPE) archival samples for targeted exome sequencing were enrolled in this study. We also analyzed accessible data of aggressive PPGLs from The Cancer Genome Atlas (TCGA) and compared with findings of AMC samples. Results: A total of 115 germline and 34 somatic variants were identified in AMC cohort. Tumors of AMC cohort had median 0.58 per megabase tumor mutation burden. Most frequently mutated mutations were SDHB germline mutation (27%), and SETD2, NF1, HRAS somatic mutations (13%). Genes are subtyped into pseudohypoxia group (n=5), kinase group (n=5) and unknown (n=5) group. In unknown subgroup, two samples showed ATRX mutations and one accompanied SETD2 mutation. In copy number variation analysis, the most frequently observed pattern was deletion of 1p arm where SDHB is present. In survival analysis, SDHB mutation and pseudohypoxia subtype was significantly associated with poor prognosis. Conclusion: The analysis of NGS from patients with metastatic PPGLs demonstrated rare genetic events as well as well-known mutations. The pseudohypoxia subtype presented poor prognosis than kinase or unknown subtypes. Subjects who had no deletion in 1p arm showed favorable treatment response. Further studies to discover driver events and markers of metastasis are warranted.

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Telysheva, E. N., E. G. Shaikhaev e G. P. Snigireva. "Mutational profile of KRAS-positive colorectal cancer". Siberian journal of oncology 21, n. 1 (3 marzo 2022): 47–56. http://dx.doi.org/10.21294/1814-4861-2022-21-1-47-56.

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Aim: to study the features of the molecular genetic profile of KRAS-positive colorectal cancer (CRC).Material and Methods. The study included 42 patients diagnosed with colorectal cancer. The KRAS gene mutation was detected in tumor tissue of these patients by real-time PC R. Using the next generation sequencing technology (NGS ) on the Illumina platform, the genes involved in the molecular pathogenesis of colorectal cancer, namely KRAS, BRAF, NRAS, APC, TP53, SMAD2, SMAD4, FBXW7, PIK3CA, CTNNB1, TCF7L2, MLH1, MSH2, MSH3, MSH6, ATM, TGF-BR2, AKT1, CDC27, CASP8, MAP2K4, DCC, DMD, MAP7, ERBB2, P3H3, MIER3, CADM1, FLT4, PTPN12, PIK3R1, and EP300 were analyzed. Sample preparation of libraries from isolated DNA was carried out using commercial kits GeneRead DNAS eq Targeted Panel v2 Human Colorectal Cancer (Qiagen, USA ); NEBNext Ultra DNA library Prep kit for Illumina and NEBNext Multiplex Oligos for Illumina (New England BioLabs).Results. In 36 patients with KRAS-positive tumors, changes were observed in 13 genes involved in the molecular pathogenesis of colorectal cancer. A total of 82 somatic variants were identified. Moreover, 9 patients additionally had one mutation each, 17 patients had 2 mutations each, 7 patients had 3 mutations each, and 3 patients had 4 mutations each. Combination of three mutations in key genes involved in the pathogenesis of colorectal cancer (KRAS, APC и TP53) was detected in 15 (36 %) patients. Combination of two mutations in the KRAS and APC genes was detected in 10 (23.8 %) patients, and in the KRAS and TP53 genes – in 8 (19.1 %) patients. The largest number of somatic mutations was found in the APC (59.5 %) and TP53 (54.7 %) genes. It was hown that a combination of three mutations in key genes was the most unfavorable prognosis factor and indicated a higher aggressiveness of the tumor process.Conclusion. The information obtained using the NGS method on the mutational status of a KRAS -positive tumor in patients with colorectal cancer allows for personalized treatment as well as predicting the outcome.

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Conroy, Jeffrey M., Sarabjot Pabla, Marc S. Ernstoff, Igor Puzanov, Mary Nesline, Sean T. Glenn, Antonios Papanicolau-Sengos et al. "Comprehensive immune and mutational profile of melanoma." Journal of Clinical Oncology 36, n. 5_suppl (10 febbraio 2018): 182. http://dx.doi.org/10.1200/jco.2018.36.5_suppl.182.

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182 Background: The association between tumor mutational profiles and immune signatures has not been well-characterized. Methods: 306 melanoma samples were tested by NGS using a comprehensive cancer panel for mutational status and an immune response panel which interrogates the expression profile of 54 validated immune-related genes. The ranking of gene expression, mutational burden and 7 immune phenotypes was compared to a reference population. 38% cases were positive for activating BRAF mutations, 12% for RAS, and 6% for NF1. The remaining 44% were considered triple wild type. Principal component analysis (PCA) followed by hierarchical clustering was performed to determine association of BRAF/RAS/NF1 mutations and triple wild type with immune phenotypes, mutational burden and gene expression as measured by the NGS panels. Results: PCA showed that the first and second dimension explain 86% of the variation in the mutation profiles of the 306 melanomas. The first principal component highly correlated with BRAF positive status (pval < 0.001), the second highly correlated with RAS positive status (pval < 0.001), and the third principal component, although not informative, highly correlated with NF1 status (pval < 0.001) and Mutation Burden (pval < 0.001). Hierarchical clustering of the samples resulted in 4 distinct clusters: RAS positive, BRAF Positive, NF1 positive and triple wild type. The RAS positive cluster demonstrated significantly lower expression of ICOSLG, ICOS, CD4, C10orf54, CD40 and CD244 genes. Similarly, the BRAF positive cluster under-expresses immune escape and proinflammatory immune phenotypes, but over-expressed OX40L. The NF1 positive cluster had significantly higher mutational burden than other clusters. On the contrary, the triple wild type cluster over-expressed 6 out of 7 immune phenotypes. Conclusions: BRAF/RAS/NF1 mutation status are immunophenotypically distinct and do not associate with a typical immune phenotype in the tumor microenvironment. Triple wild type samples present with an overall activated immune phenotype, representative of an inflamed tumor. Additional studies are necessary to include additional activating or loss of function mutations to expand these findings.

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Futreal, Andy. "The Mutational Profile of Plasma Cell Disorders". Blood 122, n. 21 (15 novembre 2013): SCI—14—SCI—14. http://dx.doi.org/10.1182/blood.v122.21.sci-14.sci-14.

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Abstract Multiple myeloma is a plasma cell malignancy that is the second most common hematologic cancer. The genetics of the disease have been previously characterized by two major subtypes involving recurrent translocations of the immunoglobulin heavy chain, c-MAF, cyclin D (CCND1) and FGFR3/MMSET oncogenes, and the hyperdiploid group with multiple recurrent trisomies. Further, there are characterized cytogenetic/ploidy subsets that appear to carry prognostic significance. Specifically, gains of chromosomes 5, 9, 11, 15, and 19 confer a good prognosis whilst gain of 1q plus deletions of 1p, 12p, 14q, 16q, and 22q confer a poor prognosis. More recently the application of massively parallel sequencing has revealed further insights into the genetic architecture of multiple myeloma. Work from several groups has identified the contribution of mutations in genes involved in non-canonical NF-kB signaling, MAPK signaling and histone methylation, as well as infrequent mutation of cancer genes implicated in other tumor types and novel genes. These data will be presented to give an overall update on the current state of multiple myeloma genetics and our current level of insight in the genomic complexity that characterizes this disease. Disclosures: No relevant conflicts of interest to declare.

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Lamba, Simona, Lara Felicioni, Fiamma Buttitta, Fonnet E. Bleeker, Sara Malatesta, Vincenzo Corbo, Aldo Scarpa et al. "Mutational Profile of GNAQQ209 in Human Tumors". PLoS ONE 4, n. 8 (31 agosto 2009): e6833. http://dx.doi.org/10.1371/journal.pone.0006833.

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Rutherford, Kayleigh, Noushin Farnoud, Aishwarya Krishnan, Raajit K. Rampal, Ross L. Levine e Nicole Kucine. "Mutational Profile of Children with Myeloproliferative Neoplasms". Blood 140, Supplement 1 (15 novembre 2022): 3991–92. http://dx.doi.org/10.1182/blood-2022-164732.

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Barry, Emily, Andre Luiz De Souza, Sheldon L. Holder, Galina Lagos, Anthony E. Mega, Benedito A. Carneiro e Ali Amin. "Germline mutational profile in metastatic urothelial malignancy." Journal of Clinical Oncology 41, n. 6_suppl (20 febbraio 2023): 550. http://dx.doi.org/10.1200/jco.2023.41.6_suppl.550.

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550 Background: 24% of patients with high-risk urothelial carcinoma have pathogenic germline mutations (Nassar, Genetics in Medicine 2020). In that study, demographics, metachronous/synchronous tumors, and family history did not differ between germline and sporadic cases of bladder cancer. We report herein the prevalence of actionable mutations and de novo metastatic disease in patients with germline mutations who developed metastatic urothelial carcinoma. Methods: We retrospectively analyzed a database of 90 patients with metastatic urothelial carcinoma (urethral, bladder, and upper tract disease) at our institution who had genetic testing performed on tumor specimens. T-student test was performed to calculate statistical significance for the distribution of age, while Chi-square test evaluated the frequency distribution of gender, actionable mutations, and de novo metastatic disease. Patients’ tumors were sequenced by a 700 gene panel for both somatic and germline mutations. Comprehensive chart review was performed to extract clinical data. Results: Out of the 90 patients reviewed, 11 (11.1%) had germline mutations. Of these patients, 5 had upper tract urothelial carcinoma, 5 had bladder cancer, and 1 had urethral cancer. Nine patients had pathogenic germline mutations: MUTYH, BRCA2 (each representing 1.8% of patients); APC, BRCA1, CDKN2A, FH, MSH2 (each representing 0.9% of patients). Two patients had germline mutations of unknown significance ( APC, CHEK2). Age (T-value 1.62053, p=1.08453), gender (Chi-square 0.0024, p=0.961037) or de novo metastatic presentation (Chi-square 0.5, p=0.4795) were not statistically significant between patients with germline and sporadic mutations. Somatic actionable mutations included ATR, BRCA2, BRAF, CDK12, ERBB2, FBXW7, FGFR3, HRAS, MTAP, and PIK3CA. Microsatellite instability high (MSI-H) status was only present in the patient with germline MSH2 mutation. PD-L1 expression was high (CPS ≥10) in 4 patients with germline mutations. Tumor mutational burden ranged from 1.1 to 28.4 mutations per Megabase. Conclusions: Our findings further define the clinical and genomic characteristics of patients with metastatic urothelial carcinoma and germline mutations in a tertiary center. Further investigation is warranted to validate these findings in national sequencing databases.

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Corrigan, L., S. Alken, S. P. Finn e D. J. Gallagher. "2010P Mutational profile and tumour mutational burden in Li-Fraumeni Syndrome associated cancer". Annals of Oncology 31 (settembre 2020): S1120—S1121. http://dx.doi.org/10.1016/j.annonc.2020.08.1316.

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Astolfi, Annalisa, Margherita Nannini, Valentina Indio, Angela Schipani, Alessandro Rizzo, Anna Myriam Perrone, Pierandrea De Iaco et al. "Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile". Cancers 12, n. 8 (31 luglio 2020): 2126. http://dx.doi.org/10.3390/cancers12082126.

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Uterine Leiomyosarcoma (uLMS) is by far the most common type of uterine sarcoma, characterized by an aggressive clinical course, a heterogeneous genetic profile and a very scarce response to cytotoxic chemotherapy. The genetic make-up of uLMS is an area of active study that could provide essential cues for the development of new therapeutic approaches. A total of 216 patients with uLMS from cBioPortal and AACR-GENIE databases were included in the study. The vast majority of patients (81%) carried at least one mutation in either TP53, RB1, ATRX or PTEN. The most frequently mutated gene was TP53, with 61% of the patients harboring at least one mutation, followed by RB1 at 48%. PTEN alteration was more frequent in metastases than in primary lesions, consistent with a later acquisition during tumor progression. There was a significant trend for TP53 and RB1 mutations to occur together, while both TP53 and RB1 were mutually exclusive with respect to CDKN2A/B inactivation. Overall survival did not show significant correlation with the mutational status, even if RB1 mutation emerged as a favorable prognostic factor in the TP53-mutant subgroup. This comprehensive analysis shows that uLMS is driven almost exclusively by the inactivation of tumor suppressor genes and suggests that future therapeutic strategies should be directed at targeting the main genetic drivers of uLMS oncogenesis.

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Vicente, Anna Luiza S. A., Camila S. Crovador, Graziela Macedo, Cristovam Scapulatempo-Neto, Rui M. Reis e Vinicius L. Vazquez. "Mutational Profile of Driver Genes in Brazilian Melanomas". Journal of Global Oncology, n. 5 (dicembre 2019): 1–14. http://dx.doi.org/10.1200/jgo.19.00169.

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PURPOSE Mutation testing of the key genes involved in melanoma oncogenesis is now mandatory for the application of targeted therapeutics. However, knowledge of the mutational profile of melanoma remains largely unknown in Brazil. PATIENTS AND METHODS In this study, we assessed the mutation status of melanoma driver genes BRAF, NRAS, TERT, KIT, and PDGFRA in a cohort of 459 patients attended at Barretos Cancer Hospital between 2001 and 2012. We used polymerase chain reaction followed by Sanger sequencing to analyze the hot spot mutations of BRAF exon 15 (V600E), NRAS (codons 12/13 and 61), TERT (promoter region), KIT (exons 9, 11, 13, and 17), and PDGFRA (exons 12, 14, and 18) in tumors. The mutational profile was investigated for associations with demographic, histopathologic, and clinical features of the disease. RESULTS The nodular subtype was most frequent (38.9%) followed by the superficial spreading subtype (34.4%). The most frequent tumor location was in the limbs (50.0%). The mutation rates were 34.3% for TERT and 34.1% for BRAF followed by NRAS (7.9%), KIT (6.2%), and PDGFRA (2.9%). The BRAF ( P = .014) and TERT ( P = .006) mutations were associated with younger patients and with different anatomic locations, particularly in the trunk, for the superficial spreading and nodular subtypes, respectively ( P = .0001 for both). PDGFRA mutations were associated with black skin color ( P = .023) and TERT promoter mutations with an absence of ulceration ( P = .037) and lower levels of lactate dehydrogenase. There was no association between patient survival rates and mutational status. CONCLUSION The similar mutational profile we observe in melanomas in Brazil compared with other populations will help to guide precision medicine in this country.

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Janavičius, Ramūnas, Vilius Rudaitis, Ugnius Mickys, Pavel Elsakov e Laimonas Griškevičius. "Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania". Cancer Genetics 207, n. 5 (maggio 2014): 195–205. http://dx.doi.org/10.1016/j.cancergen.2014.05.002.

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Grigore, Andra, Mihaela Dragomir, Onda-Tabita Călugăru, Dumitru Jardan, Cerasela Jardan, Melen Brînză, Paul Bălănescu e Daniel Coriu. "Mutational Profile in Romanian Patients with Hemophilia A". International Journal of Molecular Sciences 25, n. 15 (31 luglio 2024): 8366. http://dx.doi.org/10.3390/ijms25158366.

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Hemophilia A (HA) is an X-linked recessive bleeding disorder caused by mutations in the F8 gene, resulting in deficient or dysfunctional factor VIII (FVIII). This study aimed to characterize the mutational profile of HA in Romanian patients using next-generation sequencing (NGS) and multiplex ligation-dependent probe amplification (MLPA). A total of 107 patients were analyzed, revealing pathogenic or likely pathogenic variants in 96.3% of cases. The identified mutations included missense (30.5%), nonsense (9.1%), small deletions (6.4%), small insertions (2.1%), splice-site variants (4.3%), large deletions (1.6%), and large duplications (1.1%). Large intron inversion was previously found in 37.5% of the patients. Novel variants accounted for 21.5% of identified mutations, expanding the spectrum of F8 variants in this population. This study underscores the genetic heterogeneity of HA and provides insights into genotype–phenotype correlations, aiding in clinical management and prenatal diagnosis.

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Fabiani, Emiliano, Laura Cicconi, Anna Maria Nardozza, Antonio Cristiano, Marianna Rossi, Tiziana Ottone, Giulia Falconi et al. "Mutational profile of ZBTB16‐RARA‐positive acute myeloid leukemia". Cancer Medicine 10, n. 12 (27 maggio 2021): 3839–47. http://dx.doi.org/10.1002/cam4.3904.

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Jin, Chun, Cheng Yan, Yi Zhang, Yong-Xing Zhang, Jia-Hao Jiang e Jian-Yong Ding. "A mutational profile in multiple thymic squamous cell carcinoma". Gland Surgery 8, n. 6 (dicembre 2019): 691–97. http://dx.doi.org/10.21037/gs.2019.11.08.

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Seo, J. S., Y. S. Ju, W. C. Lee, J. Y. Shin, J. K. Lee, T. Bleazard, J. Lee et al. "The transcriptional landscape and mutational profile of lung adenocarcinoma". Genome Research 22, n. 11 (13 settembre 2012): 2109–19. http://dx.doi.org/10.1101/gr.145144.112.

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Adler, Nikki R., Catriona A. McLean, Rory Wolfe, John W. Kelly, Grant A. McArthur, Andrew Haydon, Thien Tra, Nicholas Cummings e Victoria J. Mar. "Concordance of somatic mutational profile in multiple primary melanomas". Pigment Cell & Melanoma Research 31, n. 5 (15 aprile 2018): 592–603. http://dx.doi.org/10.1111/pcmr.12702.

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Schwartz, Jason R., Michael P. Walsh, Jing Ma, Tamara Lamprecht, Raul C. Ribeiro e Jeffery M. Klco. "The Mutational Profile of Pediatric Therapy-Related Myeloid Neoplasms". Blood 132, Supplement 1 (29 novembre 2018): 2775. http://dx.doi.org/10.1182/blood-2018-99-118995.

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Abstract (sommario):

Abstract We and others recently showed that the mutational spectrum of de novo pediatric myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) is different than those in adults. MDS and AML also occur in children as a consequence of cytotoxic therapies used to treat childhood malignancies and are collectively referred to as therapy-related myeloid neoplasms (tMN). The incidence of pediatric tMN is ~1% in the pediatric cancer population. These secondary malignancies are usually resistant to conventional chemotherapy and managed with hematopoietic cell transplantation (HCT). These patients have a dismal prognosis. TP53 mutations and somatic alterations in chromatin modifiers predominate in adults with tMN, yet whether children with tMN have a similar constellation of genetic alterations remains unclear since comprehensive genomic profiling has not been completed in a large pediatric tMN cohort. We hypothesize that the mutational profile of pediatric tMN will be different than adult tMN given the patients' younger age and the different spectrum of primary tumor types and chemotherapies. Here we describe the somatic mutational profile of pediatric tMN (including tMDS & tAML) using whole exome (WES) and RNA-sequencing. We evaluated 65 diagnostic bone marrow samples from 61 unique patients, obtained from the St. Jude Children's Research Hospital Tissue Bank from patients diagnosed between 1987 & 2018. The cohort contains 26 tMDS and 39 tAML cases; in 4 patients both tMDS and tAML samples were included. Primary tumors included hematological malignancies (n=45), bone and soft tissue solid tumors (n=14), and brain tumors (n=2); acute lymphoblastic leukemia (ALL) was the most common primary tumor (n = 38, 62%). WES was completed for 61 tumor/normal pairs using Nextera Rapid Capture Expanded Exome (Illumina), while WGS was completed on 4 pairs. Normal comparator genomic DNA was obtained from flow-sorted lymphocytes. Median sequencing coverage for the tumor and normal samples were 107x and 95x, respectively. An average of 49 variants/patient (range: 6-217) was observed in the tMN cohort, including coding, non-coding, silent, and splice site variants, which is significantly different than our previously reported 5 variants/patient in pediatric primary MDS (p = 1x10-6). There was not a significant difference in the number of mutations/patient when tMDS was compared to tAML. Mutational signature analysis (https://cancer.sanger.ac.uk/cosmic/signatures) identified 3 major signatures, the most predominant was characterized by a strong bias for C>A mutations (Signature 24), followed by a signature with strong transcriptional strand bias for T>A mutations (Signature 27) and then a smaller subset resembling MDS and AML (Signature 1). Interestingly, patients with Signature 1 had an inferior 2-year overall survival than the other mutational signatures, with a median survival of 0.3 years (p = 0.0005). WES data and conventional karyotyping showed that chromosome 7 deletions (del(7)) were frequent (n=21, 32%), followed by deletions involving chromosome 5 (del(5)) (n=10, 15%). All of the cases with del(5) had complex cytogenetics and 6 of the 10 cases also had del(7). Ras/MAPK pathway mutations were present in 37% of the cases (40 total mutations in 27 cases). Canonical KRAS (n = 14), NF1 (n = 8), and NRAS (n = 7) mutations were the most frequent coding mutations present overall. Only 5 patients had somatic TP53 mutations, all of which had complex karyotypes. RNA sequencing was performed on 55 samples with suitable RNA. KMT2A rearrangements (KMT2Ar) were common (n = 29, 53%), 4 of which were cytogenetically cryptic. KMT2A rearrangements were more common in tAML (n = 25) but were present in tMDS (n = 4). Nearly half of these KMT2Ar cases also harbored an additional Ras/MAPK mutation. Fusions involving NUP98, RUNX1, MECOM, and ETV6 were also detected. In conclusion, we show that the mutational profile of pediatric tMN has fewer TP53 mutations and more KMT2Ar than adults, as well as a unique set of mutational signatures. These differences are likely a reflection of age-specific chemotherapeutic strategies and fewer pre-existing TP53 mutant hematopoietic clones in children. Future studies understanding the clonal evolution of pediatric tMN development will be helpful in describing pediatric tMN further. Disclosures No relevant conflicts of interest to declare.

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Sun, Bryan K., Hua Wang, Jinah Kim, Jer-Kang Chen, Lihyun Sun, Yilin Zhang e Susan M. Swetter. "Mutational profile of primary dermal melanoma: A case series". Journal of the American Academy of Dermatology 75, n. 6 (dicembre 2016): 1263–65. http://dx.doi.org/10.1016/j.jaad.2016.08.028.

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Lefebvre, Celine, Thomas Bachelot, Thomas Filleron, Marion Pedrero, Mario Campone, Jean-Charles Soria, Christophe Massard et al. "Mutational Profile of Metastatic Breast Cancers: A Retrospective Analysis". PLOS Medicine 13, n. 12 (27 dicembre 2016): e1002201. http://dx.doi.org/10.1371/journal.pmed.1002201.

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35

Cabezas-Camarero, Santiago, Vanesa García-Barberán, Diana Hernanpérez-Hidalgo, Melchor Saiz-Pardo-Sanz, David De Pablo Velasco, Victor Lorca, Mari Cruz Iglesias e Pedro Pérez-Segura. "Mutational profile of dysplastic lesions evolving to laryngeal cancer." Journal of Clinical Oncology 37, n. 15_suppl (20 maggio 2019): e17551-e17551. http://dx.doi.org/10.1200/jco.2019.37.15_suppl.e17551.

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Abstract (sommario):

e17551 Background: Few studies have addressed the carcinogenic process of laryngeal cancer from its premalignant phases. Our aim was to compare mutational status of laryngeal dysplasias (LD) evolving to laryngeal cancer (ELC) and not evolving to LC (NELC). Methods: Retrospective study of LD diagnosed between 2007 and 2011. A customized 15-gene NGS panel (DICER, IRF6, NOTCH1, NOTCH2, NOTCH3, NOTCH2NLA, PIK3CA, PTEN, RB1, RIPK4, SYNE1, SYNE2, TP53, TP63, CASP8) was used for mutational analysis with Truseq Custom Amplicon (Illumina) performed in FFPE LD samples and results compared between LD-ELC and LD-NELC. Results: Sixty-four patients (pts) with LD were identified. LD-ELC (N = 23) and LD-NELC (N = 41) were scored as mild (N = 40; NELC: 32 / ELC:8), moderate (N = 8; NELC: 4/ ELC: 4) and severe (N = 16; NELC:5 / ELC: 11). Prior or current moderate-to-heavy tobacco smoking ( > 10 pack-year): 53/64 (83%). Males: N = 50 (ELC: 21; NELC: 29); Female: N = 14 (ELC: 2; NELC: 12). Median time to cancer among 23 LD-ELC: 8 m (range: 0-46). Forty-seven gene variants were detected in ELC not found in NELC, of which 27 were pathogenic/likely pathogenic: Frameshift: 8 (1 in NOTCH2, 1 in PTEN, 2 in RB1, 2 in SYNE1 y 2 in SYNE2); Stop-gained: 3 (1 in NOTCH2NL, 2 in SYNE2); Splicing: 3 (1 in RB1, 1 in RIPK4 y 1 in TP53); Missense: 12 (1 in IRF6, 2 in NOTCH1, 1 in RB1, 2 in RIPK4, 6 in SYNE1). Conclusions: LD from pts ELC showed a different mutational profile than LD-NELC. These results show promise for identifying pts at higher risk for developing LC and should be validated in a larger, prospective study.

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Hussain, B., T. Sultana, S. Sultana, Z. Iqbal, S. Nadeem e S. Mahboob. "Habitat induced mutational effects and fatty acid profile changes in bottom dweller Cirrhinus mrigala inhabitant of river Chenab". Grasas y Aceites 66, n. 2 (14 aprile 2015): e075. http://dx.doi.org/10.3989/gya.0833142.

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Van Laere, S. J., P. Finetti, C. Rypens, D. Birnbaum, P. Vermeulen, P. Viens, L. Y. Dirix e F. Bertucci. "The mutational profile of IBC reveals higher mutational burden, deficiency of homologous recombination and NOTCH signalling". Annals of Oncology 30 (maggio 2019): iii4. http://dx.doi.org/10.1093/annonc/mdz095.007.

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Cargo, Catherine A., Nicola Rowbotham, Paul A. Evans, Sharon L. Barrans, David T. Bowen, Simon Crouch e Andrew S. Jack. "Targeted sequencing identifies patients with preclinical MDS at high risk of disease progression". Blood 126, n. 21 (19 novembre 2015): 2362–65. http://dx.doi.org/10.1182/blood-2015-08-663237.

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Abstract (sommario):

Key Points The mutational profile of patients with preclinical MDS is distinct from that reported in healthy individuals. In the absence of morphologic disease, mutational analysis can predict those patients at high risk of disease progression.

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39

Fischbach, Neal A., Richard S. P. Huang, Maryam B. Lustberg, Maureen Pelletier, Lajos Pusztai, Smruthy Sivakumar, Ethan Sokol, Jeffrey S. Ross e Mia Alyce Levy. "The mutational profile of ER-, PR+, HER2- metastatic breast cancer." Journal of Clinical Oncology 40, n. 16_suppl (1 giugno 2022): 1025. http://dx.doi.org/10.1200/jco.2022.40.16_suppl.1025.

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Abstract (sommario):

1025 Background: ER-PR+Her2- breast cancer is a rare subtype occurring at approximately 1% of all breast carcinomas. Most of these cancers behave in an aggressive fashion with limited benefit from anti estrogen therapy, similar to triple negative breast cancer (TNBC). Better characterization of these tumors is needed for predicting clinical behavior, response to endocrine therapy, and eligibility for clinical trials. Here we sought to evaluate the mutational profile of a well curated set of ER-PR+HER2- metastatic breast cancers and compare to other receptor phenotypes. Methods: 2049 consecutive breast cancers submitted to Foundation Medicine for comprehensive genomic profiling (CGP) were included. ER, PR and HER2 expression were abstracted from submitted pathology reports. Cases without complete ER, PR and HER2 information in pathology reports were excluded. CGP was performed as previously described (Frampton, 2013). Results: Patient ages were similar across subgroups. Generally, ER-PR+HER2- tumors were rare (n = 23, 1.1%) and most similar to TNBC in their genomic profiles. These tumors harbored high rates of TP53 and BRCA1 alterations and low rates of PIK3CA, ESR1, and CDH1 alterations. Genomic loss of heterozygosity (gLOH) was similar in the ER-PR+HER2- and ER+PR+HER2-subtypes (8.18% and 8.66% respectively), and lower than TNBC (17.19%). Notably, a high rate of RB1 alterations were identified in the ER-PR+HER2- patients (13%, 3/23), numerically higher than the other subtypes. EGFR, MET, PTEN, CDKN2A and KRAS alterations were also observed at a higher frequency in ER-PR+Her2- cancers (8.7, 4.2, 39.1, 13.0 and 13.0% respectively) relative to the other subtypes. IO drug biomarkers including MSI, TMB and PD-L1 IHC were similar among the groups. Conclusions: The mutational profile for ER-PR+Her2- metastatic breast cancer more closely resembles TNBC than ER+ breast cancer. These data suggest molecular profiling may be a useful adjunct to optimize treatment strategies for this rare subset of cancers. Based on molecular characteristics, we recommend including ER-PR+Her2- patients in clinical trials for TNBC. Finally, genes including RB1, CKDN2A, PTEN, EGFR and MET are mutated at higher frequency in ER-PR+Her2- cancers than other subsets, suggesting unique biology with potential therapeutic implications. [Table: see text]

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Dacic, Sanja. "Lung Carcinoma Morphology or Mutational Profile: That Is the Question". Archives of Pathology & Laboratory Medicine 135, n. 10 (1 ottobre 2011): 1242–43. http://dx.doi.org/10.5858/arpa.2011-0223-ed.

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41

Nicolson, Norman G., Reju Korah e Tobias Carling. "Adrenocortical cancer cell line mutational profile reveals aggressive genetic background". Journal of Molecular Endocrinology 62, n. 4 (maggio 2019): 179–86. http://dx.doi.org/10.1530/jme-18-0262.

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Abstract (sommario):

Adrenocortical carcinomas are rare tumors with poor prognosis and limited treatment options. Although widely used as in vitro models to test novel therapeutic strategies, the adrenocortical carcinoma-derived cell lines NCI-H295R and SW-13 have only partially been described genetically. Our aim was to characterize the mutational landscape of these cells to improve their experimental utility and map them to clinical subtypes of adrenocortical carcinoma. Genomic DNA from NCI-H295R and SW-13 cells was subjected to whole-exome sequencing. Variants were filtered for non-synonymous mutations and curated for validated adrenocortical and pan-cancer driver gene mutations. Genes mutated in the cell lines were mapped using gene ontology and protein pathway tools to determine signaling effects and compared to mutational and clinical characteristics of 92 adrenocortical carcinoma cases from The Cancer Genome Atlas. NCI-H295R and SW-13 cells carried 1325 and 1836 non-synonymous variants, respectively. Of these, 61 and 76 were known cancer driver genes, of which 32 were shared between cell lines. Variant interaction analyses demonstrated dominant TP53 dysregulation in both cell lines complemented by distinct WNT (NCI-H295R) and chromatin remodeling (SW-13) pathway perturbations. Both cell lines genetically resemble more aggressive adrenocortical carcinomas with worse prognosis, for which development of targeted therapies is most critical. Careful incorporation of the genetic landscapes outlined in this study will further the in vitro utility of these cell lines in testing for novel therapeutic approaches for adrenocortical malignancy.

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Franco, Fernando, Julia González-Rincón, Javier Lavernia, Juan F. García, Paloma Martín, Carmen Bellas, Miguel A. Piris et al. "Mutational profile of primary breast diffuse large B-cell lymphoma". Oncotarget 8, n. 61 (24 ottobre 2017): 102888–97. http://dx.doi.org/10.18632/oncotarget.21986.

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Aguilar, F., C. Harris, T. Sun, M. Hollstein e P. Cerutti. "Geographic variation of p53 mutational profile in nonmalignant human liver". Science 264, n. 5163 (27 maggio 1994): 1317–19. http://dx.doi.org/10.1126/science.8191284.

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Carrocini, Gisele C. S., Larissa P. R. Venancio, Viviani L. R. Pessoa, Clarisse L. C. Lobo e Claudia R. Bonini-Domingos. "Mutational Profile of Homozygousβ-Thalassemia in Rio de Janeiro, Brazil". Hemoglobin 41, n. 1 (2 gennaio 2017): 12–15. http://dx.doi.org/10.1080/03630269.2017.1289958.

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45

Montes-Rodriguez, Ingrid, Hilmaris Centeno-Girona, Noridza Rivera e Marcia Cruz-Correa. "Abstract 802: Molecular profile of gastric cancer in Hispanics living in Puerto Rico". Cancer Research 84, n. 6_Supplement (22 marzo 2024): 802. http://dx.doi.org/10.1158/1538-7445.am2024-802.

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Abstract (sommario):

Abstract Gastric cancer (GC) is the 4th leading cause of cancer death globally. The incidence and mortality rates of GC differ dramatically between racial/ethnic groupings. In the United States (U.S.), Hispanics, non-Hispanic Blacks, and Asian or Pacific Islanders are more likely to be diagnosed with GC and have a higher mortality rate than non-Hispanic Whites. Among the Hispanic population living in Puerto Rico (PRH), GC ranks among the top ten leading causes of cancer death, whereas this malignancy is not a major cause of cancer mortality in the mainland U.S. Tumor profiling approaches have resulted in the discovery of actionable gene alterations, which serve as a guide for treatment strategies and ultimately enhance the overall survival rates of individuals diagnosed with cancer. However, descriptive information regarding the genetic mutational landscape of GC tumors from PRH is limited. This study aims to describe the genomic profile of GC tumors in PRH and to identify the most prevalent genetic mutations. We retrospectively examined GC tumor mutational profiles from 106 PRH that underwent NGS testing from 2015 to 2022 (provided by CARIS Life Sciences and the Precision Oncology Alliance). We compared PRH GC tumor somatic mutation prevalence to TCGA and the AACR Project Genomics Evidence Neoplasia Information Exchange (GENIE), both available through the cBioPortal for Cancer Genomics. Descriptive statistics were performed to characterize the database. Among the top mutated genes for GC tumors in PRH were TP53 (54.1%, n=85), ARID1A (34.2%, n=73), KMT2D (30.5%, n=82), CDH1 (29.4%, n=85) and ZFHX3 (27.3%, n=55). The most frequent gene amplifications were ERBB2 (7.1%, n=84), KRAS (6.0%, n=84), and CCNE1 (4.9%, n=81). Compared to other datasets, PRH had significantly different mutational frequencies of GC driver genes like TP53, ARID1A, CDH1, and KMT2D. This study is the first to report PRH GC tumor mutational profiles and compare the mutational frequencies to other non-Hispanic and U.S. mainland Hispanic populations using TCGA and GENIE data sets. Furthermore, our study provides data on the specific mutational landscape for Hispanics with GC and the implications on therapeutic options and clinical outcomes. Developing new treatments for genomically diverse populations requires understanding the most common carcinogenic molecular pathways that affect Hispanics with GC. Citation Format: Ingrid Montes-Rodriguez, Hilmaris Centeno-Girona, Noridza Rivera, Marcia Cruz-Correa. Molecular profile of gastric cancer in Hispanics living in Puerto Rico [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 802.

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Thomas, Christian, Igor Tsaur e Katharina Boehm. "Genetic profiling in der Diagnostik des hereditären Prostatakarzinoms – wo stehen wir?" Onkologische Welt 10, n. 02 (aprile 2019): 69–74. http://dx.doi.org/10.1055/a-0864-6411.

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Abstract (sommario):

ZusammenfassungProstatakrebs weist im Vergleich zu anderen Tumorentitäten ein heterogenes genetisches Profil auf. Dementsprechend sind auch Mutationen, die das Prostatakarzinomrisiko erhöhen, vielfältig. Manche genetische Varianten fallen bei der Risikoerhöhung nur milde ins Gewicht. Andere Genmutationen (BRCA1/2; HOXB13) erhöhen das Risiko jedoch teils erheblich. Insgesamt ist die Wahrscheinlichkeit für einen nicht familiär vorbelasteten Mann, ein Träger von Mutationen zu sein, welche mit einem erhöhten PCa-Risiko assoziiert sind, niedrig. Ist aber die familiäre Belastung durch in jungem Alter erkrankte Verwandte oder eine bereits bekannte Mutation in der Familie vorhanden, so steigt auch diese Wahrscheinlichkeit an. In diesen Fällen sollte die genetische Beratung und Testung in Betracht gezogen werden. Insbesondere soll hier an BRCA1/2-Mutationen und HOXB13-Mutationen gedacht werden. Für die breite Bevölkerungsmasse kann genetic profiling bislang jedoch nicht die PSA-Wert-Bestimmung, mpMRT der Prostata und/oder die Prostatabiopsie im Rahmen der Vorsorge oder des diagnostischen Algorithmus ersetzen. Lediglich können Männer bei Vorliegen der mit PCa assoziierten Mutationen einem engmaschigeren und früheren Screening unterzogen werden und ggf. früher eine definitive Therapie erhalten.

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Boehm, Katharina, Christian Thomas e Igor Tsaur. "Genetic profiling in der Diagnostik des hereditären Prostatakarzinoms – wo stehen wir?" Aktuelle Urologie 49, n. 06 (dicembre 2018): 525–29. http://dx.doi.org/10.1055/a-0755-7360.

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Abstract (sommario):

ZusammenfassungProstatakrebs weist im Vergleich zu anderen Tumorentitäten ein heterogenes genetisches Profil auf. Dementsprechend sind auch Mutationen, die das Prostatakarzinomrisiko erhöhen, vielfältig. Manche genetische Varianten fallen bei der Risikoerhöhung nur milde ins Gewicht. Andere Genmutationen (BRCA1 /2; HOXB13) erhöhen das Risiko jedoch teils erheblich. Insgesamt ist die Wahrscheinlichkeit für einen nicht familiär vorbelasteten Mann, ein Träger von Mutationen zu sein, welche mit einem erhöhten PCa-Risiko assoziiert sind, niedrig. Ist aber die familiäre Belastung durch in jungem Alter erkrankte Verwandte oder eine bereits bekannte Mutation in der Familie vorhanden, so steigt auch diese Wahrscheinlichkeit an. In diesen Fällen sollte die genetische Beratung und Testung in Betracht gezogen werden. Insbesondere soll hier an BRCA1 /2-Mutationen und HOXB13-Mutationen gedacht werden. Für die breite Bevölkerungsmasse kann genetic profiling bislang jedoch nicht die PSA-Wert-Bestimmung, mpMRT der Prostata und/oder die Prostatabiopsie im Rahmen der Vorsorge oder des diagnostischen Algorithmus ersetzen. Lediglich können Männer bei Vorliegen der mit PCa assoziierten Mutationen einem engmaschigeren und früheren Screening unterzogen werden und ggf. früher eine definitive Therapie erhalten.

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Nicolson, Norman G., James M. Healy, Reju Korah e Tobias Carling. "Whole-Exome Sequencing of Syndromic Adrenocortical Carcinoma Reveals Distinct Mutational Profile From Sporadic ACC". Journal of the Endocrine Society 3, n. 10 (31 luglio 2019): 1819–24. http://dx.doi.org/10.1210/js.2019-00176.

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Abstract (sommario):

Abstract Next-generation sequencing has provided genetic profiles of a large number of sporadic adrenocortical carcinomas (ACCs), but the applicability of these results to ACC cases associated with tumor predisposition syndromes is unclear. Although the germline features of these syndromes have been well described, the somatic mutational landscape of the tumors they give rise to is less clear. Our group obtained germline and tumor tissue from a pediatric patient who developed ACC during her first year of life, which was treated successfully. She was subsequently diagnosed with additional tumors later in childhood. Whole exome sequencing analysis was performed followed by in silico protein function prediction, revealing a probably deleterious germline TP53 L265P mutation. The somatic mutational burden was comparable between the index case and a previously published cohort of 40 sporadic cases, but the mutational spectrum was distinct in terms of raw base-change frequency as well as in a trinucleotide context-specific analysis. No canonical somatic genetic drivers of ACC were identified in the reported case, suggesting that syndromic adrenocortical tumors may represent a genetically distinct entity from sporadic tumors.

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Alquati, Chiara, Anna Prossomariti, Giulia Piazzi, Francesco Buttitta, Franco Bazzoli, Luigi Laghi e Luigi Ricciardiello. "Discovering the Mutational Profile of Early Colorectal Lesions: A Translational Impact". Cancers 13, n. 9 (25 aprile 2021): 2081. http://dx.doi.org/10.3390/cancers13092081.

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Abstract (sommario):

Colorectal cancer (CRC) develops through a multi-step process characterized by the acquisition of multiple somatic mutations in oncogenes and tumor-suppressor genes, epigenetic alterations and genomic instability. These events lead to the progression from precancerous lesions to advanced carcinomas. This process requires several years in a sporadic setting, while occurring at an early age and or faster in patients affected by hereditary CRC-predisposing syndromes. Since advanced CRC is largely untreatable or unresponsive to standard or targeted therapies, the endoscopic treatment of colonic lesions remains the most efficient CRC-preventive strategy. In this review, we discuss recent studies that have assessed the genetic alterations in early colorectal lesions in both hereditary and sporadic settings. Establishing the genetic profile of early colorectal lesions is a critical goal in the development of risk-based preventive strategies.

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Fournier, Elise, Nicolas Duployez, Benoît Ducourneau, Emmanuel Raffoux, Pascal Turlure, Denis Caillot, Xavier Thomas et al. "Mutational profile and benefit of gemtuzumab ozogamicin in acute myeloid leukemia". Blood 135, n. 8 (20 febbraio 2020): 542–46. http://dx.doi.org/10.1182/blood.2019003471.

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Abstract (sommario):

Abstract Acute myeloid leukemia (AML) is a highly heterogeneous disease both in terms of genetic background and response to chemotherapy. Although molecular aberrations are routinely used to stratify AML patients into prognostic subgroups when receiving standard chemotherapy, the predictive value of the genetic background and co-occurring mutations remains to be assessed when using newly approved antileukemic drugs. In the present study, we retrospectively addressed the question of the predictive value of molecular events on the benefit of the addition of gemtuzumab ozogamicin (GO) to standard front-line chemotherapy. Using the more recent European LeukemiaNet (ELN) 2017 risk classification, we confirmed that the benefit of GO was restricted to the favorable (hazard ratio [HR], 0.54, 95% confidence interval [CI], 0.30-0.98) and intermediate (HR, 0.57; 95% CI, 0.33-1.00) risk categories, whereas it did not influence the outcome of patients within the adverse risk subgroup (HR, 0.93; 95% CI, 0.61-1.43). Interestingly, the benefit of GO was significant for patients with activating signaling mutations (HR, 0.43; 95% CI, 0.28-0.65), which correlated with higher CD33 expression levels. These results suggest that molecular aberrations could be critical for future differentially tailored treatments based on integrated genetic profiles that are able to predict the benefit of GO on outcome.

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