Work

ZMYND11::MBTD1 Fusion in Myeloid/NK Cell Precursor Leukemia: A Case Report With Literature Review and Diagnostic Implications

Year: 2025

Type: article

Abstract: ABSTRACT Myeloid/NK cell precursor leukemia (MNKPL) is a rare, aggressive entity often misdiagnosed as acute myeloid leukemia (AML) or aggressive NK cell leukemia (ANKL) because of overlapping markers (CD7 + , CD13/CD33 + , CD56 + , myeloperoxidase [MPO]−). We report a patient initially diagnosed with ANKL; subsequent flow‐cytometric reevaluation (CD7 + , CD13 + , CD33 + , CD34 + , CD56 + , CD117 + , MPO − ) supported a diagnosis of MNKPL. RNA sequencing and nested PCR identified an in‐frame ZMYND11::MBTD1 fusion. A review of published ZMYND11::MBTD1 leukemias ( n = 5) found immunophenotypes highly consistent with MNKPL, suggesting prior misclassification. These findings support ZMYND11::MBTD1 as a recurrent lesion in MNKPL and a practical aid to diagnosis and treatment selection.

Source: Pediatric Blood & Cancer

DOI: 10.1002/1545-5017.70044