Pediatric Leukemia: Newly Identified Gene Translocations

Martyn Smith and Patricia Buffler
P42ES04705, P30ES01896, and R01ES09137
University of California, Berkeley

Background: Pediatric leukemias are caused by a variety of genetic abnormalities. These genetic differences help to categorize the diseases for treatment strategies and prognoses. The identification of individual molecular subtypes is also providing clarity to biological and epidemiological studies, which continue to uncover new information for the causes and potential treatments for leukemia.

Advance: Previous research by this research team has identified specific genetic polymorphisms, present in utero, associated with a specific type of childhood leukemia. The current discovery describes a protein, which is the product of the fusion of two genes E2A and PBX1, which appears to occur after birth.

Implication: This study provides evidence of a unique leukemia in relation to the temporal, ontological, and mechanistic properties of the disease. It reemphasizes the need to differentiate cytogenetic and molecular subgroups of leukemias for studies of causality and for possible different treatment strategies.

Citation: Wiemels JL, Leonard BC, Wang Y, Segal MR, Hunger SP, Smith MT, Crouse V, Ma X, Buffler PA, Pine SR. Site-specific translocation and evidence of postnatal origin of the t(1;19) E2A-PBX1 fusion in childhood acute lymphoblastic leukemia. Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):15101-6.