Genomic profiling of Anaplastic Large Cell Lymphoma

Diplôme Thèse Genomic profiling of Anaplastic Large Cell Lymphoma eng 2013-07-29 author Boi Michela 731841 director Scapozza Leonardo 600318 director Bertoni Francesco 10.13097/archive-ouverte/unige:33246 urn:nbn:ch:unige-332463 Sc. 4586 ALCL is one of the most common form of NHL. ALCL has been separated in two distinct entities based on the presence or absence of translocations affecting ALK gene. The aim of this project is to demonstrate that ALK+ and ALK- subsets can definitively be considered different entities. ALK- ALCL samples have a more perturbated and complex profile. Among all the ALCLs, the most common losses affected 17p13.3-p12 (TP53, 25%) and 6q21 (PRDM1, 19%). PRDM1 was inactivated in 12/31 (39%) and in 1/33 (3%) of clinical specimens derived from ALK- and ALK+ ALCL respectively, in 4/7 (57%) ALCL cell lines. We perform gain-of-function experiments in order to unravel the function of BLIMP1 loss in ALCL pathogenesis. After the re-expression of PRDM1, ALCL cells underwent proliferation arrest, with a concomitant moderate increase in the percentage of apoptotic cells and an arrest in cell cycle, suggesting a tumor suppressor role for BLIMP1. ALCL BLIMP1 TP53 Genomic SNP Dewey 500 2 Faculté des sciences 1 false 15ed7590-c946-407a-abd3-12b003b7c383 Thesis Public PhD thesis MICHELA BOI DEF with imprimatur.pdf 12375668 application/pdf openAccess Faculté des sciences

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Boi, Michela