Myeloid neoplasms with PHF6 mutations: context-dependent genomic and prognostic characterization in 176 informative cases.

ABSTRACT: Recent reports suggest a favorable prognosis for PHF6 mutation (PHF6^MUT) in chronic myelomonocytic leukemia (CMML) and unfavorable in acute myeloid leukemia (AML). We accessed 176 consecutive patients with a spectrum of myeloid neoplasms with PHF6^MUT, including AML (N = 67), CMML (N = 49), myelodysplastic syndromes (MDS; N = 36), myeloproliferative neoplasms (MPN; N = 16), and MDS/MPN (N = 8). PHF6 mutations were classified as nonsense (43%) or frameshift (30%) with the PHD2 domain being the most frequently (64%) affected region. Median follow-up was 25 months with 110 (63%) deaths and 44 allogenic transplants. Our top-line observations include (a) a distinctly superior overall survival (OS; 81 vs. 18 months; p < 0.01) and blast transformation-free survival (BTFS; "no

SUBMITTER: Fathima S 

PROVIDER: S-EPMC11873042 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature