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. 2025 Dec;100(12):2448-2451.
doi: 10.1002/ajh.70113. Epub 2025 Oct 30.

Genetic Landscape of Myelodysplastic Syndrome and Clonal Hematopoiesis: Insights From Whole Exome Sequencing of 90 000 Individuals

Iman Sarami  1 , Jeremy S Haley  2 , Diane T Smelser  2 , Adam M Cook  2 , Joseph J Vadakara  3 , Yi Ding  1 , David J Carey  2
Affiliations

Genetic Landscape of Myelodysplastic Syndrome and Clonal Hematopoiesis: Insights From Whole Exome Sequencing of 90 000 Individuals

Iman Sarami et al. Am J Hematol. 2025 Dec.

Abstract

Analysis of whole-exome sequencing data from 92,434 MyCode EHR-linked biobank participants characterizes the spectrum and co-mutation architecture of clonal hematopoiesis and myelodysplastic syndromes (MDS). Age-related increases in variants affecting DNMT3A, TET2, ASXL1, SRSF2, SF3B1, and RUNX1 are observed, with co-mutation patterns distinguishing MDS-associated clonal evolution. Allele balance patterns suggest predominantly somatic origins for most MDS-related variants, while RUNX1 variants show enrichment consistent with germline origin. MDS is associated with elevated cardiovascular risk, whereas CHIP demonstrates no significant cardiovascular association after adjustment for demographic factors.

Keywords: clonal hematopoiesis; myelodysplastic syndrome; whole exome sequencing.

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