CBFA2, frequently rearranged in leukemia, is not responsible for a familial leukemia syndrome

Leukemia
R D LegareD G Gilliland

Abstract

We have identified a family with an autosomal dominant platelet disorder with a predisposition for developing myeloid malignancies and have previously demonstrated linkage of this trait to chromosome 21q22.1-22.2. The nearest flanking markers, D21S1265 and D21S167, define the familial platelet disorder (FPD) critical region at a genetic distance of approximately 15.2 centimorgans and physical distance of approximately 6 megabases. This locus is of particular interest as it has previously been implicated in the pathogenesis of acute myelogenous leukemia (AML) and acute lymphoblastic leukemia (ALL) through the (8;21), (3;21) and (12;21) chromosomal translocations. In each of these cases, the CBFA2 gene is rearranged. As well, there is a potential association of this locus with the hematologic abnormalities seen in Down syndrome (trisomy 21). To identify the mutant gene in this pedigree, a positional cloning strategy has been undertaken. Several candidate genes map to this locus including: CBFA2, IFNAR1, IFNAR2, CRFB4, GART, SON, KCNE1, SCL5A3 and ATP50. CBFA2, as well as IFNAR1 and CRFB4, were the focus of initial mutational analysis efforts. In this report, we exclude CBFA2 as a candidate by Northern and Southern blotting, RNase...Continue Reading

Citations

Nov 28, 2001·International Journal of Hematology·M OsatoY Ito
Nov 7, 2000·Cancer Genetics and Cytogenetics·L RobinsonA Smith
Sep 25, 2001·Archives of Disease in Childhood·J M ChessellsI M Hann
May 25, 2011·Haematologica·Elena Liew, Carolyn Owen
Dec 20, 2013·International Journal of Clinical Medicine·A SorrellR Bhatia
Aug 15, 2003·Oncogene·Soumen ChakrabortyGiuseppina Nucifora
Feb 18, 1999·Oncogene·J N DavisS Meyers
May 29, 2002·Oncogene·Joseph M ScanduraStephen D Nimer
Sep 27, 2003·Blood·Sandeep GurbuxaniJohn D Crispino

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