Acute Megakaryoblastic Leukemia Harboring a Subclone Expressing BCR-ABL1 Fusion Gene Product

Intern Med. 2021 Nov 15;60(22):3609-3614. doi: 10.2169/internalmedicine.7335-21. Epub 2021 May 29.

Abstract

Acute myeloid leukemia (AML) with BCR-ABL1, also termed Philadelphia chromosome-positive AML (Ph+ AML), is a rare leukemia subtype classified by the World Health Organization in 2016. The characteristics of Ph+ AML have not been fully identified yet. We herein report a patient with Ph+ AML who phenotypically exhibited megakaryoblastic characteristics, FAB:M7 and harbored a subclone expressing BCR-ABL1 gene fusion products. This case suggests that BCR-ABL1 was acquired as a subclone due to a secondary event that might have occurred late during leukemia evolution. Our findings may aid in deciphering the mechanism underlying Ph+ AML development in future studies.

Keywords: BCR-ABL1 fusion gene; Ph+ AML; acute megakaryoblastic leukemia.

Publication types

  • Case Reports

MeSH terms

  • Fusion Proteins, bcr-abl / genetics
  • Humans
  • Leukemia, Megakaryoblastic, Acute* / genetics
  • Leukemia, Myelogenous, Chronic, BCR-ABL Positive*

Substances

  • Fusion Proteins, bcr-abl