| Literature DB >> 23153540 |
Tanja A Gruber1, Amanda Larson Gedman, Jinghui Zhang, Cary S Koss, Suresh Marada, Huy Q Ta, Shann-Ching Chen, Xiaoping Su, Stacey K Ogden, Jinjun Dang, Gang Wu, Vedant Gupta, Anna K Andersson, Stanley Pounds, Lei Shi, John Easton, Michael I Barbato, Heather L Mulder, Jayanthi Manne, Jianmin Wang, Michael Rusch, Swati Ranade, Ramapriya Ganti, Matthew Parker, Jing Ma, Ina Radtke, Li Ding, Giovanni Cazzaniga, Andrea Biondi, Steven M Kornblau, Farhad Ravandi, Hagop Kantarjian, Stephen D Nimer, Konstanze Döhner, Hartmut Döhner, Timothy J Ley, Paola Ballerini, Sheila Shurtleff, Daisuke Tomizawa, Souichi Adachi, Yasuhide Hayashi, Akio Tawa, Lee-Yung Shih, Der-Cherng Liang, Jeffrey E Rubnitz, Ching-Hon Pui, Elaine R Mardis, Richard K Wilson, James R Downing.
Abstract
To define the mutation spectrum in non-Down syndrome acute megakaryoblastic leukemia (non-DS-AMKL), we performed transcriptome sequencing on diagnostic blasts from 14 pediatric patients and validated our findings in a recurrency/validation cohort consisting of 34 pediatric and 28 adult AMKL samples. Our analysis identified a cryptic chromosome 16 inversion (inv(16)(p13.3q24.3)) in 27% of pediatric cases, which encodes a CBFA2T3-GLIS2 fusion protein. Expression of CBFA2T3-GLIS2 in Drosophila and murine hematopoietic cells induced bone morphogenic protein (BMP) signaling and resulted in a marked increase in the self-renewal capacity of hematopoietic progenitors. These data suggest that expression of CBFA2T3-GLIS2 directly contributes to leukemogenesis.Entities:
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Year: 2012 PMID： 23153540 PMCID： PMC3547667 DOI： 10.1016/j.ccr.2012.10.007
Source DB: PubMed Journal: Cancer Cell ISSN： 1535-6108 Impact factor: 31.743