Landscape of biallelic DNMT3A mutant myeloid neoplasms.

ABSTRACT: DNA methyltransferase 3 A mutations (DNMT3A^MT) are frequent in myeloid neoplasia (MN) and mostly heterozygous. However, cases with multiple DNMT3A^MT can be also encountered but their clinical and genetic landscape remains unexplored. We retrospectively analyzed 533 cases with DNMT3A^MT identified out of 5,603 consecutive MNs, of whom 8.4% had multiple DNMT3A^MT hits. They were most frequent in acute myeloid leukemia (AML) with R882 variant accounting for 13.3% of the multi-hits. Multiple DNMT3A^MT more likely coincided with IDH2 (P = 0.005) and ETV6 (P = 0.044) mutations compared to patients with single DNMT3A^MT. When the sum of variant allele frequencies (VAFs) for multiple DNMT3A^MT exceeded 60%, we found a signific

SUBMITTER: Kawashima N 

PROVIDER: S-EPMC11438130 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature