Pathologic Spectrum and Molecular Landscape of Myeloid Disorders Harboring SF3B1 Mutations

Elise R. Venable, Dong Chen, Constance P. Chen, Kurt R. Bessonen, Phuong L. Nguyen, Jennifer L. Oliveira, Kaaren K. Reichard, James D. Hoyer, Simon D. Althoff, Dana J. Roh, Mechelle A. Miller, Kebede Begna, Mrinal M. Patnaik, Mark R. Litzow, Aref Al-Kali, David S. Viswanatha, Rong He

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)679-690
Number of pages12
JournalAmerican journal of clinical pathology
Issue number4
StatePublished - Oct 1 2021


  • Myelodysplastic syndrome
  • Myeloid disorders
  • Next-generation sequencing
  • SF3B1
  • Transcription factor

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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