A Case of Acute Myeloid Leukemia, Myelodysplasia-Related (AML-MR) with Immunophenotypic Features Suggestive of B/Myeloid Mixed-Phenotype Acute Leukemia (MPAL), Harboring Multiple KMT2A Gene Amplifications

Abstract

The amplification of KMT2A, a gene involved in hematopoietic stem cell function, is extremely rare in acute leukemias, especially in mixed-phenotype acute leukemia. We present the case of a 62-year-old patient diagnosed with acute myeloid leukemia, myelodysplasia-related (AML-MR) with immunophenotypic features suggestive of B/myeloid mixed-phenotype acute leukemia (MPAL), with the presence of multiple KMT2A gene amplifications and a very aggressive and complicated clinical course ending in failure despite intensive treatment. KMT2A amplification in MPAL could be a risk factor suggesting adverse outcomes.