TY - JOUR
T1 - Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype
AU - Duetz, Carolien
AU - Westers, Theresia M.
AU - in ’t Hout, Florentien E. M.
AU - Cremers, Eline M. P.
AU - Alhan, Canan
AU - Venniker-Punt, Bianca
AU - Visser-Wisselaar, Heleen A.
AU - Chitu, Dana A.
AU - de Graaf, Aniek O.
AU - Smit, Linda
AU - Jansen, Joop H.
AU - van de Loosdrecht, Arjan A.
N1 - Funding Information: We would like to thank all the technicians of the department of Hepatology for collecting and analysing flow cytometry data, especially, A. Zevenbergen and C. Cali, and all the participating centres within Dutch‐Belgian Hematology Oncology Cooperative Trial Group (HOVON) for including patients in the HOVON89 trial. We would like to thank David Cucchi for extensive proof reading. This study was supported in part by research funding from MDS‐RIGHT, which has received funding from the European Union’s Horizon 2020 research and innovation program under grant agreement No 634789 – ‘Providing the right care to the right patient with MyeloDysplastic Syndrome at the right time’. Funding Information: We would like to thank all the technicians of the department of Hepatology for collecting and analysing flow cytometry data, especially, A. Zevenbergen and C. Cali, and all the participating centres within Dutch-Belgian Hematology Oncology Cooperative Trial Group (HOVON) for including patients in the HOVON89 trial. We would like to thank David Cucchi for extensive proof reading. This study was supported in part by research funding from MDS-RIGHT, which has received funding from the European Union?s Horizon 2020 research and innovation program under grant agreement No 634789 ? ?Providing the right care to the right patient with MyeloDysplastic Syndrome at the right time?. Publisher Copyright: © 2021 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd. Copyright: Copyright 2021 Elsevier B.V., All rights reserved.
PY - 2021/5
Y1 - 2021/5
N2 - 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.
AB - 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.
KW - SF3B1
KW - diagnostic haematology
KW - flow cytometry
KW - mutational analysis
KW - myelodysplastic syndromes
UR - http://www.scopus.com/inward/record.url?scp=85103216756&partnerID=8YFLogxK
U2 - https://doi.org/10.1111/bjh.17414
DO - https://doi.org/10.1111/bjh.17414
M3 - Article
C2 - 33765355
SN - 0007-1048
VL - 193
SP - 798
EP - 803
JO - British journal of haematology
JF - British journal of haematology
IS - 4
ER -