Rinsho Ketsueki
Online ISSN : 1882-0824
Print ISSN : 0485-1439
ISSN-L : 0485-1439
Feature Articles: Update in hematology 2015 —focusing on the biology (Lymphoid diseases)—
Molecular genetics of acute lymphoblastic leukemia
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2015 Volume 56 Issue 3 Pages 253-260


Acute lymphoblastic leukemia (ALL), a clonal expansion of hematopoietic blasts, is a highly heterogeneous disease comprising many entities for which distinct treatment strategies are pursued. Recurrent defects including chromosomal translocations, aneuploidies, and gene-specific alterations generate molecular subgroups of B- and T-ALL with differing clinical courses and distinct responses to therapy. Herein, we review the spectrum of genetic aberrations that promote acute B- and T-ALL, as well as the currently-revealed mechanisms of cell transformation and malignant progression. Although 5-year overall survival of childhood ALL patients has improved to as much as 90% due to progress in chemotherapy and other supporting therapeutic modalities, including allo-HSCT, the prognosis is still poor for the remaining 10% of cases, which consist mainly of MLL-AF4-positive ALL and bcr-abl positive ALL. The prognosis of adults with ALL is not satisfactory and adult ALL remains a challenging disease. The development of novel methodologies, including new molecular therapeutic targets, is also needed to improve the prognosis of ALL.

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© 2015 The Japanese Society of Hematology
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