Myelodysplastic Syndromes-Transformed Acute Myeloid Leukemia With Concurrent DEK::CAN Fusion Gene Positivity and WT1 Overexpression: A Case Report and Literature Review.
- 1Zhejiang Chinese Medical University, Hangzhou, China.
- 2Department of Hematology, Wenzhou Key Laboratory of Hematology Research, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
- 3Department of Rehabilitation Medicine, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China.
Abstract
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.
Related
- A rare case of acute basophilic leukemia transformed from high risk myelodysplastic syndrome.
- Engineered SERPINE1 Overexpression Activates the pp53/p21 Pathway and Promotes a Growth-Restricted, Migratory Phenotype in KRAS-Transformed Renal Proximal Tubular Cells
- Myelodysplastic syndrome after COVID-19 infection in a living-donor kidney transplant recipient: a case report and literature review
- Consolidation immunotherapy after concurrent chemoradiotherapy enabling conversion surgery for stage IIIB pulmonary NUT carcinoma: a case report and literature review
- CYTOGENETIC AND GENOMIC ANALYSIS IN A CHILD WITH MYELODYSPLASTIC SYNDROME ASSOCIATED WITH HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS: CASE REPORT AND LITERATURE REVIEW
BibTeX
@article{mao2026myelodysplastic,
title = {{Myelodysplastic Syndromes-Transformed Acute Myeloid Leukemia With Concurrent DEK::CAN Fusion Gene Positivity and WT1 Overexpression: A Case Report and Literature Review.}},
author = {Wanxiu Mao and Tengmin Zhou and Xi Xu and Sheng Luo and Songfu Jiang and Zhijie Yu},
journal = {Cancer reports (Hoboken, N.J.)},
year = {2026},
month = oct,
doi = {10.1002/cnr2.70714},
url = {https://europepmc.org/article/MED/42852916},
note = {CC BY},
}
RIS
TY - JOUR
TI - Myelodysplastic Syndromes-Transformed Acute Myeloid Leukemia With Concurrent DEK::CAN Fusion Gene Positivity and WT1 Overexpression: A Case Report and Literature Review.
AU - Wanxiu Mao
AU - Tengmin Zhou
AU - Xi Xu
AU - Sheng Luo
AU - Songfu Jiang
AU - Zhijie Yu
PY - 2026
DA - 2026/10/01
JO - Cancer reports (Hoboken, N.J.)
DO - 10.1002/cnr2.70714
UR - https://europepmc.org/article/MED/42852916
AB - 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.
SN - 2573-8348
ER -