Variant of ETV6/ABL1 Gene Is Associated with Leukemia Phenotype
Authors:
- Myungshin KimMKMyungshin Kim
- Jihyang LimJLJihyang Lim
- Yonggoo KimYKYonggoo Kim
- Kyungja HanKHKyungja Han
- Jae Seok KimJKJae Seok Kim
- Seok LeeSLSeok Lee
- Hee-Je KimHKHee-Je Kim
- Woo-Sung MinWMWoo-Sung Min
- 16 November 2012
- journal article
- case report
- Published by S. Karger AG in Acta Haematologica
- Vol. 129 (2) , 78-82
Abstract
The ETV6/ABL1 fusion transcript is thought to be a very rare aberration in hematopoietic malignancies. We describe two new cases of acute leukemia with the ETV6/ABL1 fusion, acute myeloid leukemia with eosinophilia (case 1) and B acute lymphoblastic leukemia (ALL) (case 2), screened by multiplex RT-PCR. The ETV6/ABL1 fusion was also confirmed by fluorescence in situ hybridization using a mixture of BCR/ABL1 and ETV6/RUNX1 probes. A thorough review of all published cases showed that all 7 reported ALL patients possess the type A ETV6/ABL1 fusion transcript, composed of the first 4 exons of ETV6 fused to the second exon of ABL1. The presence of the type A fusion transcript strongly implies ALL manifestation in ETV6/ABL1-positive hematologic malignancies as minor BCR breakpoint in BCR/ABL1-positive ALL.Keywords
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