A case of acute myeloid leukemia with e6a2 BCR-ABL fusion transcript acquired after progressing from chronic myelomonocytic leukemia

Jinjuan Yao; Dan Douer; Lu Wang; Maria E Arcila; Khedoudja Nafa; April Chiu

doi:10.1016/j.lrr.2017.01.003

A case of acute myeloid leukemia with e6a2 BCR-ABL fusion transcript acquired after progressing from chronic myelomonocytic leukemia

Leuk Res Rep. 2017 Jan 31:7:17-19. doi: 10.1016/j.lrr.2017.01.003. eCollection 2017.

Authors

Jinjuan Yao¹, Dan Douer¹, Lu Wang¹, Maria E Arcila¹, Khedoudja Nafa¹, April Chiu²

Affiliations

¹ Department of Pathology, Memorial Sloan Kettering Cancer Center, 1275 York Avenue, New York, NY 10065, USA.
² Department of Laboratory Medicine and Pathology Mayo Clinic, 200 First St. SW, Rochester, MN 55905, USA.

Abstract

Philadelphia (Ph) chromosome is a cytogenetic hallmark of chronic myeloid leukemia (CML). Most patients with CML harbor either the e13a2 or e14a2 BCR-ABL fusion product, while a small subset of the cases expresses e1a2 or e19a2 transcripts. We report a patient with chronic myelomonocytic leukemia (CMML), initially Ph chromosome negative at presentation, with rapid disease progression to acute myeloid leukemia (AML) and appearance of Ph chromosome and BCR-ABL e6a2, a very uncommon fusion transcript. The AML was refractory to treatment with subsequent emergence and dominance of a Ph negative leukemic clone. The patient expired shortly after disease progression.

Keywords: AML transformation; BCR-ABL e6a2; CMML.

Publication types

Case Reports