Dataset Information


Germline duplication of ATG2B and GSKIP predisposes to familial essential thrombocythemia rapidly progressing to acute leukemia

ABSTRACT: No major predisposing gene for familial myeloproliferative neoplasms (MPN) has been identified. Here, we demonstrate that the autosomal dominant transmission of a 700 kb duplication in four geographically-related families predisposes to MPN rapidly progressing to acute leukemia. Using induced pluripotent stem and primary cells to explore hematopoietic differentiation, we demonstrate that overexpressed ATG2B and GSKIP enhance hematopoietic progenitor differentiation, including megakaryocytic through increasing their sensitivity to TPO. ATG2B and GSKIP cooperate with acquired JAK2, MPL and CALR mutations during MPN development. Thus, the germline duplication changes the fitness of cells harboring signaling mutations and increases the probability of disease development. 14 samples corresponding to iPSC and control cases (Cy5) where hybridized in dual color against commercial normal reference DNA (Cy3) of matched sex, except for samples with unknown gender for which male normal was used as reference.

ORGANISM(S): Homo sapiens  

SUBMITTER: Joseph Saliba   Nathalie Droin  Françoise Isnard  Cécile Saint-Martin  Gwendoline Leroy  Hana Raslova  Jane Merlevede  Christine Bellanné-Chantelot  Christine Delaunay-Darivon  Najet Debili  Nicole Casadevall  Folrence Pasquier  Lise Secardin  Antonio Di Stefano  Emna Mahfoudhi  Jean-Côme Mediane  Véronique Della Valle  Eric Solary  Khadija M Diop  William Vainchenker  Boris Keren  Olvier A Bernard  Caroline Marty  Isabelle Plo  Sarah Grosjean  Gaëlle Lenglet  Sabine Charrier  Bastien Job  Albert Najman  Pascal Fuseau  Aberta Palazzo 

PROVIDER: E-GEOD-67938 | ArrayExpress | 2015-08-05



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