KMT2A-Partial Tandem Duplication Associates With Leukemia Transformation in Myelodysplastic Syndrome.

Authors

Zhao-Yu Li, Dai-Hong Xie, Wen-Min Chen, Xu Wang, Ling-Di Li, Yue Hao, Jin-Ying Li, Xiao-Su Zhao, Hao Jiang, Qian Jiang, Xiao-Jun Huang, Ya-Zhen Qin

Published in

Clinical lymphoma, myeloma & leukemia. Jul 15, 2026. Epub Jul 15, 2026.

Abstract

Partial tandem duplication of KMT2A (KMT2A-PTD) is observed not only in acute myeloid leukemia (AML) but also in myelodysplastic syndrome (MDS), while the prognostic value of KMT2A-PTD in MDS needs to be clarified and the optimal therapies for these patients remains unclear.
In this study, we analyzed 137 MDS patients with KMT2A-PTD from our hospital (PKUPH cohort) and incorporated 2493 MDS patients from the International Working Group for Prognosis in MDS (IWG-PM) cohort, among whom 65 patients had KMT2A-PTD.
MDS patients with KMT2A-PTD in IWG-PM cohort had significantly higher blast percentage and IPSS-R score than those without KMT2A-PTD. The 3-year cumulative incidence of leukemia transformation in MDS patients with KMT2A-PTD from both PKUPH and IWG-PM cohort was significantly higher than that in MDS patients without KMT2A-PTD (49.8% [95% CI, 38.6%-61.1%] vs. 19.3% [95% CI, 17.5%-21.2%], P < .001; 58.3% [95% CI, 43.1%-73.5%] vs. 19.3% [95% CI, 17.5%-21.2%], P < .001), respectively. Multivariate analysis in the IWG-PM cohort showed that KMT2A-PTD was an independent poor predictor for leukemia transformation (P < .001). None of co-occurring gene mutations significantly influenced the risk of leukemia transformation in MDS patients with KMT2A-PTD. A landmark analysis in PKUPH cohort suggested that allogenic hematopoietic stem cell transplantation (allo-HSCT) significantly reduced the cumulative incidence of leukemia transformation (P < .001) and the cumulative incidence of relapse (17.6% [95% CI, 5.1%-28.7%] vs. 100% [95% CI, 51.0%-100%], P < .001), respectively.
KMT2A-PTD may identify a distinct MDS subgroup characterized by a high risk of leukemia transformation, and allo-HSCT could improve outcomes of MDS patients with KMT2A-PTD.

PMID:
42580927
Bibliographic data and abstract were imported from PubMed on 12 Aug 2026.

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