Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation.

ABSTRACT:

Purpose

To investigate the clinical characteristics and prognosis of mutation spots and concomitant gene mutations in myelodysplastic syndromes (MDS) with SF3B1 mutation (SF3B1^mut).

Patients and methods

Patients diagnosed with MDS at Shanghai Jiao Tong University School of Medicine Affiliated Sixth People's Hospital from October 2008 to November 2023 were enrolled in this study. SF3B1^mut was identified by next-generation sequencing (NGS).

Results

One hundred and seven (8.7%) cases harbored the SF3B1 mutation. The most frequent SF3B1^mut, noted in 47.66% of all patients, was the hotspot K700E. K666 and R625 were observed in 24.30% and 9.35%, respectively. Two less frequent mutation subtypes accounted for 5.61% of H662 and 4.67% of E622.

SUBMITTER: Liu Q 

PROVIDER: S-EPMC12060130 | biostudies-literature | 2025 May

REPOSITORIES: biostudies-literature