학술논문
ATG2B/Gskipin De NovoAcute Myeloid Leukemia (AML): High Prevalence of Germline Predisposition in French West Indies and Potential Role of Overexpression in Acquired AML
Document Type
Article
Author
Pegliasco, Jean; Panneau-Schmaltz, Barbara; Martin, Jean-Edouard; Chraibi, Samy; Legoupil, Clemence; Pasquier, Florence; Willekens, Christophe; Bera, Odile; Caron, Olivier; Bourhis, Jean-Henri; Tang, Roseline; Ben-Ali, Adel; Lopez, Maureen; Cotteret, Sophie; Saada, Veronique; Auger, Nathalie; Delaunay, Jacques; Cornillet-Lefebvre, Pascale; Recher, Christian; de Botton, Stephane; Vainchenker, William; Fuseau, Pascal; Benabelali, Raouf; Helias, Philippe; Marzac, Christophe; Plo, Isabelle; Meniane, Jean-Come; Bellanné-Chantelot, Christine; Micol, Jean-Baptiste
Source
Blood; November 2018, Vol. 132 Issue: 1, Number 1 Supplement 1 p1482-1482, 1p
Subject
Language
ISSN
00064971; 15280020
Abstract
In 2015, a germline copy number variation of chromosome 14 (CNVdup14) including ATG2Band GSKIPgenes was described as a predisposition genetic factor responsible of familial myeloproliferative neoplasms from French West Indies (Saliba et al, Nat Gen 2015), frequently progressing to AML. In this study, we looked at the presence of this CNVdup14 in a cohort of Caribbean islands patients (pts) with non-secondary aggressive hematological malignancies (HM). We also studied the expression of ATG2Band GSKIPgenes in a cohort of acquired AML pts.