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

Autor: Duetz C; Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Location VUmc, Amsterdam, the Netherlands., Westers TM; Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Location VUmc, Amsterdam, the Netherlands., In 't Hout FEM; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands., Cremers EMP; Department of Hematology, Maastricht University Medical Center, Maastricht, the Netherlands., Alhan C; Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Location VUmc, Amsterdam, the Netherlands., Venniker-Punt B; Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Location VUmc, Amsterdam, the Netherlands., Visser-Wisselaar HA; Department of Hematology, HOVON Data Center, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., Chitu DA; Department of Hematology, HOVON Data Center, Erasmus MC Cancer Institute, Rotterdam, the Netherlands., de Graaf AO; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands., Smit L; Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Location VUmc, Amsterdam, the Netherlands., Jansen JH; Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands., van de Loosdrecht AA; Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Location VUmc, Amsterdam, the Netherlands.
Jazyk: angličtina
Zdroj: British journal of haematology [Br J Haematol] 2021 May; Vol. 193 (4), pp. 798-803. Date of Electronic Publication: 2021 Mar 25.
DOI: 10.1111/bjh.17414
Abstrakt: 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.
(© 2021 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz: