Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype

C. Duetz, T.M. Westers, F.E.M. in 't Hout, E.M.P. Cremers, C. Alhan, B. Venniker-Punt, H.A. Visser-Wisselaar, D.A. Chitu, A.O. de Graaf, L. Smit, J.H. Jansen, A.A. van de Loosdrecht*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

Splicing factor 3B subunit 1 (SF3B1) mutations define a distinct myelodysplastic syndromes (MDS) patient group with a relatively favourable disease course and high response rates to luspatercept. Few data are available on bone marrow phenotype beyond ring sideroblasts in this subgroup of patients with MDS. In the present study, we identified immunophenotypic erythroid, myelomonocyte and progenitor features associated with SF3B1 mutations. In addition, we illustrate that SF3B1-mutation type is associated with distinct immunophenotypic features, and show the impact of co-occurrence of a SF3B1 mutation and a deletion of chromosome 5q on bone marrow immunophenotype. These genotype-phenotype associations and phenotypic subtypes within SF3B1-MDS provide leads that may further refine prognostication and therapeutic strategies for this particular MDS subgroup.
Original languageEnglish
Pages (from-to)798-803
Number of pages6
JournalBritish Journal of Haematology
Volume193
Issue number4
DOIs
Publication statusPublished - 1 May 2021

Keywords

  • myelodysplastic syndromes
  • mutational analysis
  • flow cytometry
  • diagnostic haematology

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