Distinct bone marrow immunophenotypic features define the splicing factor 3B subunit 1 (SF3B1)-mutant myelodysplastic syndromes subtype
| Autor: | Canan Alhan, Arjan A. van de Loosdrecht, Dana A. Chitu, Aniek O. de Graaf, Heleen Visser-Wisselaar, Bianca Venniker-Punt, Linda Smit, Eline M. P. Cremers, Theresia M. Westers, Florentien E. M. in ’t Hout, Joop H. Jansen, Carolien Duetz |
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| Přispěvatelé: | VU University medical center, Hematology laboratory, Internal medicine, CCA - Cancer biology and immunology, Hematology, AII - Cancer immunology, MUMC+: MA Med Staf Artsass Interne Geneeskunde (9), RS: FHML non-thematic output |
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
Male
mutational analysis Haematological malignancy ‐ Biology Cancer development and immune defence Radboud Institute for Molecular Life Sciences [Radboudumc 2] Mutant Short Report Splicing Factor 3B Subunit 1 Bone Marrow Cells diagnostic haematology Biology medicine.disease_cause Immunophenotyping 03 medical and health sciences 0302 clinical medicine Short Reports hemic and lymphatic diseases medicine Humans Myelomonocyte Mutation Myelodysplastic syndromes flow cytometry SF3B1 Hematology Phosphoproteins medicine.disease Phenotype myelodysplastic syndromes 3. Good health medicine.anatomical_structure 030220 oncology & carcinogenesis Cancer research Chromosomes Human Pair 5 Female RNA Splicing Factors Bone marrow Gene Deletion 030215 immunology |
| Zdroj: | British Journal of Haematology, 193(4), 798-803. Wiley-Blackwell British Journal of Haematology British Journal of Haematology, 193(4), 798-803. Wiley 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, vol. 193, no. 4, pp. 798-803 . https://doi.org/10.1111/bjh.17414 British Journal of Haematology, 193, 4, pp. 798-803 British Journal of Haematology, 193, 798-803 |
| ISSN: | 0007-1048 |
| DOI: | 10.1111/bjh.17414 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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