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

Carolien Duetz; Theresia M. Westers; Florentien E.M. in ’t Hout; Eline M.P. Cremers; Canan Alhan; Bianca Venniker-Punt; Heleen A. Visser-Wisselaar; Dana A. Chitu; Aniek O. de Graaf; Linda Smit; Joop H. Jansen; Arjan A. van de Loosdrecht

doi:10.1111/bjh.17414

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

Carolien Duetz, Theresia M. Westers, Florentien E.M. in ’t Hout, Eline M.P. Cremers, Canan Alhan, Bianca Venniker-Punt, Heleen A. Visser-Wisselaar, Dana A. Chitu, Aniek O. de Graaf, Linda Smit, Joop H. Jansen, Arjan A. van de Loosdrecht^*

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

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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 language	English
Pages (from-to)	798-803
Number of pages	6
Journal	British Journal of Haematology
Volume	193
Issue number	4
DOIs	https://doi.org/10.1111/bjh.17414
Publication status	Published - May 2021
Externally published	Yes

Bibliographical note

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.

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Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtypeFinal published version, 219 KBLicence: CC BY-NC

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Duetz, C., Westers, T. M., in ’t Hout, F. E. M., Cremers, E. M. P., Alhan, C., Venniker-Punt, B., Visser-Wisselaar, H. A., Chitu, D. A., de Graaf, A. O., Smit, L., Jansen, J. H., & van de Loosdrecht, A. A. (2021). Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype. British Journal of Haematology, 193(4), 798-803. https://doi.org/10.1111/bjh.17414

@article{b5f11e4bbf2a460291dfd14b7f3672ce,

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

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.",

author = "Carolien Duetz and Westers, {Theresia M.} and {in {\textquoteright}t Hout}, {Florentien E.M.} and Cremers, {Eline M.P.} and Canan Alhan and Bianca Venniker-Punt and Visser-Wisselaar, {Heleen A.} and Chitu, {Dana A.} and {de Graaf}, {Aniek O.} and Linda Smit and Jansen, {Joop H.} and {van de Loosdrecht}, {Arjan A.}",

note = "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{\textquoteright}s Horizon 2020 research and innovation program under grant agreement No 634789 – {\textquoteleft}Providing the right care to the right patient with MyeloDysplastic Syndrome at the right time{\textquoteright}. 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: {\textcopyright} 2021 The Authors. British Journal of Haematology published by British Society for Haematology and John Wiley & Sons Ltd.",

year = "2021",

month = may,

doi = "10.1111/bjh.17414",

language = "English",

volume = "193",

pages = "798--803",

journal = "British Journal of Haematology",

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Duetz, C, Westers, TM, in ’t Hout, FEM, Cremers, EMP, Alhan, C, Venniker-Punt, B, Visser-Wisselaar, HA, Chitu, DA, de Graaf, AO, Smit, L, Jansen, JH & van de Loosdrecht, AA 2021, 'Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype', British Journal of Haematology, vol. 193, no. 4, pp. 798-803. https://doi.org/10.1111/bjh.17414

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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.

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.

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VL - 193

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JO - British Journal of Haematology

JF - British Journal of Haematology

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ER -

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

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