Review
Open access
Hematologic Malignancies With RUNX1::ZFPM2 Translocation: A Case Report and Literature Review
Marie Templé
Romain Vazquez
E. Balducci
L. Couronné
R. Birsen
Anne-Laure Roupie
J. Decroocq
Cyrielle Rodier
Lise Willems
Nicolas Chapuis
C. Almire
Ismaël Boussaid
M. Fontenay
D. Bouscary
O. Kosmider
Chloé Friedrich
Medicine
Abstract
RUNX1 rearrangements are recurrent in myeloid neoplasms, but rare fusion partners remain poorly characterized. We report the first acute myeloid leukemia (AML) with a RUNX1::ZFPM2 fusion generated by t(8;21)(q23;q22). A 72‐year‐old woman presented with acute myelomonocytic leukemia carrying concomitant IDH2 and NRAS mutations. Azacitidine–venetoclax induced transient remission with a marked decrease in the fusion transcript. However, persistent cytopenias, molecular relapse, and treatment resistance led to death 1 year after diagnosis. This case expands the spectrum of RUNX1‐rearranged AML and suggests a biological behavior distinct from classical RUNX1::RUNX1T1‐positive AML.