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

• Published in: British journal of haematology Vol. 193; no. 4; pp. 798 - 803
• Main Authors: Duetz, Carolien, Westers, Theresia M., in ’t Hout, Florentien E. M., Cremers, Eline M. P., Alhan, Canan, Venniker‐Punt, Bianca, Visser‐Wisselaar, Heleen A., Chitu, Dana A., Graaf, Aniek O., Smit, Linda, Jansen, Joop H., Loosdrecht, Arjan A.
• Format: Journal Article
• Language: English
• Published: England Blackwell Publishing Ltd 01.05.2021; John Wiley and Sons Inc
• Subjects: Bone marrow; Bone Marrow Cells - immunology; Chromosome 5; Chromosome deletion; Chromosomes, Human, Pair 5 - genetics; Chromosomes, Human, Pair 5 - immunology; diagnostic haematology; Female; flow cytometry; Gene Deletion; Genotypes; Haematological malignancy ‐ Biology; Hematology; Humans; Immunophenotyping; Male; Mutation; mutational analysis; Myelodysplastic syndrome; myelodysplastic syndromes; Myelodysplastic Syndromes - classification; Myelodysplastic Syndromes - genetics; Myelodysplastic Syndromes - immunology; Phenotypes; Phosphoproteins - genetics; Phosphoproteins - immunology; RNA Splicing Factors - genetics; RNA Splicing Factors - immunology; SF3B1; Short Report; Sideroblasts; Splicing factors; flow cytometry; diagnostic haematology; SF3B1; mutational analysis; myelodysplastic syndromes
• ISSN: 0007-1048; 1365-2141; 1365-2141
• DOI: 10.1111/bjh.17414

Summary 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.