Letteratura scientifica selezionata sul tema "Leucémie aigüe lymphoblastique – Génétique"
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Articoli di riviste sul tema "Leucémie aigüe lymphoblastique – Génétique"
Lassalle, Sandra, Catherine Butori, Véronique Hofman, Martine Gari-Toussaint, Jérôme Mouroux e Paul Hofman. "Pneumopathie à Cunninghamella bertholletiae compliquant une leucémie aigüe lymphoblastique". Annales de Pathologie 27, n. 2 (aprile 2007): 141–44. http://dx.doi.org/10.1016/s0242-6498(07)91302-4.
Testo completoZougmoré, A. D. W., Y. L. T. Bayala, W. J. S. Zabsonre/Tiendrebeogo e D. D. Ouedraogo. "Oligoarthrite chronique des genoux et de l’épaule gauche révélatrice d'une leucémie aigüe lymphoblastique : à propos d’une observation chez un garçon de 10 ans." Rhumatologie Africaine Francophone 7, n. 1 (16 febbraio 2024): 6–10. http://dx.doi.org/10.62455/raf.v7i1.71.
Testo completoBendari, Mounia, e Hanane Delsa. "Rechute d’une leucémie aigüe lymphoblastique révélée par une fissure anale". PAMJ Clinical Medicine 4 (2020). http://dx.doi.org/10.11604/pamj-cm.2020.4.89.24112.
Testo completoEloundou, Paul, Francine Same Bebey, Ritha Carole Mbono, Aly Badra Kamissoko, Emeline Tiogouo, Leo Fozeu e Guy Sadeu Wafeu. "Maladie de Still de l’enfant et Leucémie aigüe lymphoblastique, une association exceptionnelle: à propos d’un cas". Pan African Medical Journal 43 (2022). http://dx.doi.org/10.11604/pamj.2022.43.156.33476.
Testo completoOuarhlent, Yamina, Hanane Salhi, Hamida Laiadhi, Khadija Meklid, Mohamed Riadh Makhloufi, Souad Zaid, Fatima Zohra Yahiaoui e Rabeh Chafai. "The TRALI syndrome in hematology". Batna Journal of Medical Sciences (BJMS), 30 giugno 2017, 124–26. http://dx.doi.org/10.48087/bjmscr.2017.4127.
Testo completoTesi sul tema "Leucémie aigüe lymphoblastique – Génétique"
Montpellier, Bertrand. "Recombinaison V(D)J illégitime et développement de leucémies aigues lymphoblastiques T". Aix-Marseille 2, 2008. http://theses.univ-amu.fr.lama.univ-amu.fr/2008AIX22086.pdf.
Testo completoT-ALL is a lymphoid neoplasia that accounts for 10-15% of pediatric ALL and 25% of adult ALL. Alarmingly, and despite indisputable success achieved in treatments its incidence is increasing and its prognostic remains pejorative. Survival rate outcome depend notably on a better understanding in pathogenic mechanisms. In this context, the thesis work has been the following: 1) Based on the observation that rare chromosomal SJ keep on recombining in cis using V(D)J recombination, we hypothesized that episomal SJ (ESJ) still remain reactives and can undergo genomic reintegration. We show that mechanistically, ESJ efficiently rearrange in trans and that the cRSS, the sequences targeted in oncogenic chromosomal translocations, are good ESJ integration sites. Moreover, we demonstrate the presence of ESJ reintegration events in vivo and estimate their frequency to ~1/104-6. In conclusion, ESJ reintegration is a potential mechanism of oncogenic deregulation. 2) Conventional and illegitimate V(D)J recombination events (e. G. Translocations) are ordered during lymphocyte development. Based on our knowledge on chromosomal translocation mechanisms, we determine the kinetics of a subset of oncogenic activations acquired during the transformation process in a T-ALL patient’s leukemic cells. Moreover, we identified up to 10 independent oncogenic events in this patient, illustrating the multi-hit characteristic of T-ALL. Finally, the oncogenic event’s functional impact suggests that cMyc play an important role in the particularly aggressive features of the T-ALL developed by this patient
España, Alexandre. "Caractérisation des enhancers dérégulés dans la leucémie aiguë lymphoblastique de type T". Thesis, Aix-Marseille, 2019. http://www.theses.fr/2019AIXM0481.
Testo completoSeveral genetic abnormalities in T-cell acute lymphoblastic leukemia (T-ALL) affect transcription factors or epigenetic regulators and mainly block the differentiation of T cells, thus delimiting subgroups of AL-T with specific genetic expression profiles. The regulation of the expression of cell-type-specific genes requires the interaction of different types of cis-regulatory elements (promoters, enhancers, isolators, inactivators. Given the well-recognized role of epigenetic deregulation in leukemogenesis, it is likely that a significant fraction of oncogenic enhancers remains to be discovered and functionally evaluated, and this was the subject of my thesis work. We identified potential enhancers in subpopulations of healthy thymus cells and tumor cells of LAL-T patients and thus determined 17,406 potential enhancers deregulated in T-ALL. Enhancers close to a list of genes known to be altered in LAL-T and enhancers whose presence is correlated with the overexpression of close oncogenes (NKX3-1, NKX3-2, TAL1, MYC, LMO2, or JDP2) are among them. We have also identified a new enhancer of TAL1 that appeared following a monoallelic somatic mutation incorporating a MYB site. Additionally, two high-throughput screening strategies (CapSTARR-seq and CRISPRi) have been implemented to evaluate the activity and function of potential enhancers, as well as validate the oncogenic relevance of the NKX3-2 enhancer and the HHEX gene through a CRISPR/Cas9 approach
Rouault, Jean-Pierre. "Caractérisation structurale et fonctionnelle d'un nouveau gène antiprolifératif, BTG1". Lyon 1, 1992. http://www.theses.fr/1992LYO1T089.
Testo completoRegnat, Séverine. "Quantification du transcrit TEL-AML1 pour le suivi de la maladie résiduelle des enfants atteints de leucémie aigüe lymphoblastique avec t(12;21)". Paris 5, 1998. http://www.theses.fr/1998PA05P176.
Testo completoLardeur, Henic Nathalie. "Étude cytogénétique et moléculaire des hémopathies présentant un chromosome Philadelphie". Lille 1, 1997. http://www.theses.fr/1997LIL10214.
Testo completoBen, Abdelali Raouf. "Détection des anomalies génétiques dans les LAL-T : de la biologie à la clinique". Thesis, Paris 11, 2011. http://www.theses.fr/2011PA11T013.
Testo completoT-cell acute lymphoblastic leukemia (T-ALL) are lymphoid neoplasms characterized by theproliferation of malignant T lymphoblasts arrested at early stages of maturation. Maturation arrest in TALLmirrors normal lymphopoiesis. Thus we have shown that the myeloid transcription factor CEBPA,expressed only in the most immature thymic precursors (ETP), is commonly repressed byhypermethylation in T-ALL with the exception of the most immature subset. It is now widely acceptedthat T-ALL is a “multi-hits” disease where the type A oncogenes affect the differentiation while type Boncogenes are involved in cell cycle regulation, self-renewal and T-cell commitment. The Notchsignaling pathway, crucial for T cell development, is constitutively activated by the occurrence ofmutations in NOTCH1 and /or FBXW7 (N / F) genes in approximately 60% of T-ALL. The prognosticvalue of these mutations is controversial. In our study, we showed that N/F mutations are morefrequently observed in T-ALL arrested at a cortical stage of maturation and confer a good prognosiswhich seems to be influenced by the therapeutic regimen. In this large cohort of T-ALL we could alsodetermine the frequency of the CALM-AF10 oncogenic abnormality. The latter is very common in TALLdeveloped from ETP wich are of very poor prognosis. We have shown that this is the presence ofCALM-AF10 which confers the poor prognosis in this subtype of T-ALL. Contrary to the litterature wedid not find any prognostic value associated with the overexpression of ERG and BAALC genes. Thestudy of genetic abnormalities in T-ALL provides a better understanding of oncogenesis and identifyabnormalities with prognostic value. The interest of this work is to assist clinicians for an efficienttherapeutic stratification to overcome the poor outcome of T-ALL patients
Fakhoury, May. "Pharmacogénétique en pédiatrie : 1-Expression du complexe CYP3A/P-gp dans l'entérocyte humain : 2-Implications des polymorphismes pharmacogénétiques dans la prise en charge des leucémies aiguës lymphoblastiques". Paris 5, 2005. http://www.theses.fr/2005PA05P625.
Testo completoXenobiotic disposition in the organism is highly variable among individuals and due to the impact of age and pharmacogenetic polymorphisms. A- Fundamental pharmacology project concerning the expression of CYP3A/P-gp complex in the human duodenum : - throughout post-natal development (localization and mRNA expression) - during systemic inflammation (Crohn's disease). Clinical pharmacology and pharmacogenetic project in children with acute lymphoblastic leukemia (LAL) : - evaluation of the variability in thiopurine S-methyltransferase (TPMT) during maintenance therapy - estimation of the pharmacokinetic parameters of methotrexate (MTX) and the proposal of a limited sampling strategy (H24 and H48) - impact of genetic polymorphisms (metabolic enzymes and transport proteins of anti-neoplasic agents) on the occurrence of side effects: preliminary results of two hospitals, Robert Debré (France) and Hôtel-Dieu de France (Beirut)
Jamrog, Laura. "Impact des altérations génétiques de PAX5 sur le développement de la lignée lymphoïde B et dans la leucémogenèse des LAL-B". Electronic Thesis or Diss., Toulouse 3, 2021. http://www.theses.fr/2021TOU30306.
Testo completoThe PAX5 (Paired boX 5) gene encodes a key transcription factor crucial for B-cell differentiation. We showed that the two PAX5 isoforms are differentially regulated but have equivalent function during early B-cell differentiation. Indeed, PAX5A and PAX5B isoforms can both induce B-cell program but may have functional differences after B-cell activation. The tight control of their expression may thus reflect a way to finely tune PAX5 dosage during B-cell differentiation process. PAX5 is a well-known haploinsufficient tumor suppressor gene in human B-cell precursor acute lymphoblastic leukemia (BCP-ALL) and is the main target of a wide diversity of somatic alterations in childhood and adult BCP-ALL, occurring in one third of sporadic cases. However, the role of PAX5 fusion proteins in BCP-ALL initiation and transformation is ill-known. We previously reported a new recurrent t(7;9)(q11;p13) chromosomal translocation in human BCP-ALL that juxtaposed PAX5 to the coding sequence of elastin (ELN). To study the function of the resulting PAX5-ELN fusion protein in BCP-ALL development, we generated a mouse model in which the PAX5-ELN transgene is expressed specifically in B cells. PAX5-ELN-expressing mice efficiently developed BCP-ALL phenotype with a penetrance of 80%. Leukemic transformation was associated with clonal Immunoglobulin gene rearrangement and recurrent secondary mutations in Ptpn11, Kras, Pax5, and Jak3 genes affecting key signaling pathways required for cell proliferation. Our functional studies demonstrated that PAX5-ELN impairs B-cell development in vitro and in vivo and induces an aberrant expansion of the pro-B cell compartment at the preleukemic stage. Our molecular and computational approaches identified PAX5-ELN-regulated candidate genes that establish the molecular bases of the preleukemic state to drive BCP-ALL initiation. In conclusion, our study provides a new in vivo model recapitulating the multistep leukemogenesis process of human BCP-ALL and strongly implicates PAX5 fusion proteins as potent oncoproteins in leukemia development. Furthermore, there is increasing evidence for an inherited genetic basis of susceptibility to childhood BCP-ALL. In this context, four unrelated families with childhood BCP-ALL expressing heterozygous PAX5 germline point mutations were recently reported: the recurrent mutation PAX5 G183S affecting the octapeptide domain of PAX5 has been described in three families while PAX5 R38H affecting its DNA-binding paired domain has been identified in another one. We strengthen the hypothesis of inherited character of familial BCP-ALL with the description of three novel familial BCP-ALL cases in related patients that express the germline PAX5 R38H mutation. To uncover the intrinsic effect of PAX5 R38H mutant in B-cell development, we performed in vitro, and in vivo functional assays combined with a gene expression analysis, based on a retroviral complementation approach. Our results indicated that PAX5 R38H mutant acts as a strong hypomorphic variant that fails to drive B-cell differentiation and does not exert a dominant-negative effect on wild-type PAX5. Syngeneic transplantation of PAX5 R38H-expressing cells demonstrated maintenance of engraftment capacity and led to development of BCP-ALL phenotype in mice. Our transcriptomic analysis of these PAX5 R38H-expressing cells showed that PAX5 R38H drastically alters the pattern of expression of PAX5 target genes but also revealed a distinct molecular signature specific to PAX5 R38H. Together with previous unrelated family study, our observations allow to establish the recurrence of the germline PAX5 R38H mutation associated with BCP-ALL. Our data also highlight the importance of transcriptional dysregulation in leukemogenesis of familial BCP-ALL, particularly of genes involved in B-cell differentiation
Jakobczyk, Hélène. "Rôles de RUNX1 dan la pathogenèse des leucémies aiguës lymphoblastiques à réarrangement ETV6-RUNX1". Thesis, Rennes 1, 2018. http://www.theses.fr/2018REN1B033.
Testo completoB-cell precursor acute lymphoblastic leukemia (B-ALL) is the most common pediatric cancer. In this type of leukemia, one of the most common genetic abnormalities is the ETV6-RUNX1 rearrangement. This malignancy is described as a two "hits" model. The first event occurs mainly in utero and generates the fusion gene ETV6-RUNX1. The second event consists in the acquisition of additional genetic abnormalities after birth. These aberrant genomic modifications have been described as resulting from abnormal activity of the RAG recombinase. Our work consisted initially in completing the leukemogenesis model. In continuing our study of ETV6-RUNX1 B-ALL, we focused on the role of RUNX1, an upregulated gene in this type of leukemia. All results confirm the predominant role of RUNX1 in hematopoiesis and leukemogenesis thanks to its ability to associate with proteins with different functions and its involvement in the transcription of key genes in hematology. Our results therefore open new perspectives in understanding the control of transcriptional activity of RUNX1 and its role in malignant hematology
Goepp, Marie. "Dissection fonctionnelle des spécificités et des redondances des facteurs de transcription de la famille Ikaros dans les lymphocytes T". Thesis, Strasbourg, 2015. http://www.theses.fr/2015STRAJ043/document.
Testo completoThe lkaros transcription factor family is made of the proteins lkaros, Helios, Aiolos and Eos. They are expressed during the development and regulate the differentiation of lymphocytes B and T. These proteins present a strong homology between their nucleic and protein sequences and are involved the appearance of T or B lymphoblastic leukaemia. However these factors present strong differences in their profiles of expression, their functions and their target genes. An immature T cell line, deficient for lkaros, allows us to study the functional and molecular differences of members of the family. There-expression of lkaros, Aiolos and Helios allows the differentiation and the decrease of the proliferation of these cells. I also showed that the various members of the family had different capacities to activate or repress certain target genes. An exchange of the protein sequences coding for the DNA binding domain (DBD), shows that the functional specificity is partially determined by the DBD domain, but also by the other regions of lkaros and Aiolos