Cancer reports (Hoboken, N.J.) · 2026
Myelodysplastic Syndromes-Transformed Acute Myeloid Leukemia With Concurrent DEK::CAN Fusion Gene Positivity and WT1 Overexpression: A Case Report and Literature Review.
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Mao Wanxiu, Zhou Tengmin, Xu Xi, Luo Sheng, Jiang Songfu, Yu Zhijie
Аннотация
BACKGROUND: 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.
CASE: 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.
CONCLUSION: 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.
CASE: 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.
CONCLUSION: 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.