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Approche génomique des syndromes myéloprolifératifs et des lymphomes B-diffus à grandes cellules en rechute

Abstract : Genomics provided new insights in our knowledge of pathophysiology, diagnostic approach, prognosis and therapeutic perspectives in hematological malignancies. In the first part of this work, we studied a large cohort of Refractory Anemia with Ring sideroblasts and marked Thrombocytosis (RARS-T). We demonstrated that RARS-T can be considered as an independent entity, with a specific molecular pattern, associating : (i) SF3B1 mutations in more than 85% of cases, accounting for its myelodysplastic aspect and (ii) JAK2 mutations, accounting for its myeloproliferative aspect in more than 50% of cases. Future prospects of the first part of this work is to identify (the) mutation(s) responsible for the myeloproliferative part of JAK2WT RARS-T. Diffuse large B-cell lymphoma (DLBCL) is the most common subtype of non-Hodgkin lymphoma in adults. In the second part of this work, we performed SNP-array analysis of a homogeneous series of samples from the CORAL cohort, an international prognostic study on relapsed DLBCLs. Our purpose was to identify Copy Number Variations (CNV) associated ER or LR. ER DLBCLs are associated with high rates of CNVs affecting regulators of cell cycle, apoptosis and transcription. In LR DLBCLs, CNVs are related to immune response and cell proliferation. This study provides new insights into the genetic aberrations in relapsed DLBCLs and open up new therapeutic perspectives
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Submitted on : Monday, January 4, 2021 - 11:51:35 AM
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  • HAL Id : tel-01752350, version 1


Julien Broséus. Approche génomique des syndromes myéloprolifératifs et des lymphomes B-diffus à grandes cellules en rechute. Biochimie, Biologie Moléculaire. Université de Lorraine, 2016. Français. ⟨NNT : 2016LORR0140⟩. ⟨tel-01752350⟩



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