Characterization of novel genomic alterations and therapeutic approaches using acute megakaryoblastic leukemia xenograft models.

ABSTRACT: Acute megakaryoblastic leukemia (AMKL) is a heterogeneous disease generally associated with poor prognosis. Gene expression profiles indicate the existence of distinct molecular subgroups, and several genetic alterations have been characterized in the past years, including the t(1;22)(p13;q13) and the trisomy 21 associated with GATA1 mutations. However, the majority of patients do not present with known mutations, and the limited access to primary patient leukemic cells impedes the efficient development of novel therapeutic strategies. In this study, using a xenotransplantation approach, we have modeled human pediatric AMKL in immunodeficient mice. Analysis of high-throughput RNA sequencing identified recurrent fusion genes defining new molecular subgroups. One subgroup of patients present

SUBMITTER: Thiollier C 

PROVIDER: S-EPMC3478932 | biostudies-literature | 2012 Oct

REPOSITORIES: biostudies-literature