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Landscape and clinicopathologic features of RAS pathway mutations in chronic myelomonocytic leukemia.


ABSTRACT:

Abstract

RAS pathway (RASp) mutations induce proliferative features, and promote transformation in chronic myelomonocytic leukemia (CMML). However, the unique clonal landscape and hierarchy of distinct RASp mutations remain unexplored. To characterize the landscape, architecture, and implications of unique RASp mutations in CMML, we evaluated a cohort of 814 patients with CMML. We identified 461 RASp mutations among 342 patients (42%). N/KRAS and CBL mutations were the most common, frequently involved the P-loop or RING domains, respectively, and frequently appeared as dominant events (63% and 65%, respectively). BRAF, NF1, and PTPN11 mutations spanned throughout the gene structure, and frequently appeared as subclonal events (75%, 64%, and 59%, respectively). CBL mutations frequen

SUBMITTER: Montalban-Bravo G 

PROVIDER: S-EPMC12848361 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature