A rare, in-frame BCR-ABL fusion (e13a3) in a patient with an aggressive chronic myeloid leukaemia

Ivone B Otazú; María Belén Rivero; Renata Olício; Augusto Pinto; Ilana Zalcberg; Héctor N Seuánez

doi:10.1159/000064701

A rare, in-frame BCR-ABL fusion (e13a3) in a patient with an aggressive chronic myeloid leukaemia

Acta Haematol. 2002;108(3):150-3. doi: 10.1159/000064701.

Authors

Ivone B Otazú¹, María Belén Rivero, Renata Olício, Augusto Pinto, Ilana Zalcberg, Héctor N Seuánez

Affiliation

¹ Division de Genética, Instituto Nacional de Câncer, Universidade Federal do Rio de Janeiro, Brazil. [email protected]@ufrj.br

PMID: 12373087
DOI: 10.1159/000064701

Abstract

We have identified a rare BCR-ABL chimaeric gene with multiplex and nested RT-PCR in a patient with an unusually aggressive chronic myeloid leukaemia. cDNA sequencing showed an in-frame rearrangement with a breakpoint in BCR exon e13 (b2) and fusion with ABL exon 3 following skipping of the entire ABL exon a2. These data confirm the heterogeneity of breakpoints in BCR-ABL rearrangements.

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adult
Fusion Proteins, bcr-abl / genetics*
Humans
Leukemia, Myelogenous, Chronic, BCR-ABL Positive / genetics*
Male
Translocation, Genetic*

Substances

Fusion Proteins, bcr-abl