期刊
AMERICAN JOURNAL OF CLINICAL PATHOLOGY
卷 156, 期 4, 页码 679-690出版社
OXFORD UNIV PRESS INC
DOI: 10.1093/AJCP/AQAB010
关键词
SF3B1; Next-generation sequencing; Myeloid disorders; Transcription factor; Myelodysplastic syndrome
类别
资金
- NCI NIH HHS [P30 CA015083] Funding Source: Medline
SF3B1 mutations are common in myelodysplastic syndromes and can affect prognosis. The study confirmed the favorable prognostication of SF3B1(-mut)-MDS, but further research is needed to refine the prognostication for MDS patients harboring SF3B1 mutations.
Objectives: SF3B1 mutations are the most common mutations in myelodysplastic syndromes (MDS). The International Working Group for the Prognosis of MDS (IWG-PM) recently proposed SF3B1-mutant MDS (SF3B1(-mut)-MDS) as a distinct disease subtype. We evaluated the spectrum and molecular landscape of SF3B1-mutated myeloid disorders and assessed the prognostication in MDS harboring SF3B1 mutations (MDS-SF3B1). Methods: Cases were selected by retrospective review. Clinical course and laboratory and clinical findings were collected by chart review. SF3B1(-mut)-MDS was classified following IWG-PM criteria. Results: SF3B1 mutations were identified in 75 of 955 patients, encompassing a full spectrum of myeloid disorders. In MDS-SF3B1, Revised International Prognostic Scoring System (IPSS-R) score greater than 3 and transcription factor (TF) comutations were adverse prognostic markers by both univariate and multivariate analyses. We confirmed the favorable outcome of IWG-PM-defined SF3B1(-mut)-MDS. Interestingly, it did not show sharp prognostic differentiation within MDS-SF3B1. Conclusions: SF3B1 mutations occur in the full spectrum of myeloid disorders. We independently validated the favorable prognostication of IWG-PM-defined SF3B1(-mut)-MDS. However it may not provide sharp prognostication within MDS-SF3B1 where IPSS-R and TF comutations were prognostic-informative. Larger cohort studies are warranted to verify these findings and refine MDS-SF3B1 prognostication.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据