{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Liu Q"],"funding":["The General Program of Shanghai Science and Technology Commission"],"pagination":["e70930"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12060130"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["14(9)"],"pubmed_abstract":["<h4>Purpose</h4>To investigate the clinical characteristics and prognosis of mutation spots and concomitant gene mutations in myelodysplastic syndromes (MDS) with SF3B1 mutation (SF3B1<sup>mut</sup>).<h4>Patients and methods</h4>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<sup>mut</sup> was identified by next-generation sequencing (NGS).<h4>Results</h4>One hundred and seven (8.7%) cases harbored the SF3B1 mutation. The most frequent SF3B1<sup>mut</sup>, 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. "],"journal":["Cancer medicine"],"pubmed_title":["Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation."],"pmcid":["PMC12060130"],"funding_grant_id":["22ZR1447700"],"pubmed_authors":["Yan M","Zhou L","Wu L","Chen J","Liu Q","Xu F","Wu D","Su J","He Q","Song L","Li X","Guo J","Zhang Z","Zhang Y","Huang X","Guo C","Chang C","Jin J"],"additional_accession":[]},"is_claimable":false,"name":"Significance of Mutation Spots and Concurrent Gene Mutations on Prognosis and Clinical Outcomes in Myelodysplastic Syndromes With SF3B1 Mutation.","description":"<h4>Purpose</h4>To investigate the clinical characteristics and prognosis of mutation spots and concomitant gene mutations in myelodysplastic syndromes (MDS) with SF3B1 mutation (SF3B1<sup>mut</sup>).<h4>Patients and methods</h4>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<sup>mut</sup> was identified by next-generation sequencing (NGS).<h4>Results</h4>One hundred and seven (8.7%) cases harbored the SF3B1 mutation. The most frequent SF3B1<sup>mut</sup>, 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. ","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 May","modification":"2026-05-03T23:04:04.362Z","creation":"2026-04-07T19:44:42.06Z"},"accession":"S-EPMC12060130","cross_references":{"pubmed":["40342275"],"doi":["10.1002/cam4.70930"]}}