Myelodysplastic Syndromes-Transformed Acute Myeloid Leukemia With Concurrent DEK::CAN Fusion Gene Positivity and WT1 Overexpression: A Case Report and Literature Review.

Authors

Wanxiu Mao, Tengmin Zhou, Xi Xu, Sheng Luo, Songfu Jiang, Zhijie Yu

Published in

Cancer reports (Hoboken, N.J.). Volume 9. Issue 10. Pages e70714.

Abstract

Myelodysplastic syndromes (MDS) are a group of clonal hematopoietic stem cell disorders with a risk of progression to acute myeloid leukemia (AML). MDS-transformed AML (MDS-AML) has a poor prognosis. The concurrent presence of DEK::CAN fusion gene positivity and WT1 overexpression is extremely rare and likely denotes a highly aggressive disease.
A 57-year-old Han Chinese female with a 5-year history of MDS (DEK::CAN status at initial diagnosis unknown) presented with fatigue and pancytopenia. Bone marrow blasts accounted for 81% (AML-M5), and karyotype showed t(6;9)(p23;q34). Real-time quantitative PCR (qPCR) revealed a DEK::CAN/ABL ratio of 188.21% and a WT1/ABL ratio of 52.90%; next-generation sequencing identified a U2AF1 mutation (p.Arg156His). The patient received IA regimen induction followed by intermediate-dose cytarabine consolidation. Complete remission (CR) was achieved after induction; after the first consolidation cycle, a transient CR with incomplete hematologic recovery (CRi) occurred, and CR was re-established at the final evaluation. Severe infections occurred repeatedly during treatment. Although the patient achieved CR after induction chemotherapy, recurrent infections and cumulative chemotherapy-related cytopenias prevented timely allogeneic hematopoietic stem cell transplantation (allo-HSCT). She died approximately 1 month after the last chemotherapy cycle; the cause was clinically suspected to be fatal hemorrhage, though autopsy was not performed.
MDS-AML with concurrent DEK::CAN and WT1 mRNA overexpression is a highly aggressive entity. Although chemotherapy can induce remission, treatment-related complications often preclude transplantation. Early molecular screening is recommended, and once any form of remission (CR or CRi) is achieved, prompt bridging to allo-HSCT should be pursued. Targeted therapy should also be explored.

PMID:
42852916
Bibliographic data and abstract were imported from PubMed on 09 Oct 2026.

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