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Updated: Oct 19, 2026

Investigation of the Transcriptional Role of a RUNX1 Intronic Silencer by CRISPR/Cas9 Ribonucleoprotein in Acute Myeloid Leukemia Cells
Published on: September 1, 2019
Hematologic Malignancies With RUNX1::ZFPM2 Translocation: A Case Report and Literature Review
Marie Temple1, Romain Vazquez1, Estelle Balducci2
1Biological Hematology Department Cochin Hospital AP-HP Paris France.
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.
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