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, de Graaf Aniek O, Smit Linda, Jansen Joop H, van de Loosdrecht Arjan A
Department of Hematology, Cancer Center Amsterdam, Amsterdam UMC, Location VUmc, Amsterdam, the Netherlands.
Laboratory of Hematology, Department of Laboratory Medicine, Radboud University Medical Centre, Nijmegen, the Netherlands.
Br J Haematol. 2021 May;193(4):798-803. doi: 10.1111/bjh.17414. Epub 2021 Mar 25.
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.
剪接因子3B亚基1（SF3B1）突变定义了一个独特的骨髓增生异常综合征（MDS）患者群体，其病程相对良好，对罗特西普的反应率较高。关于这一MDS亚组患者除环形铁粒幼细胞外的骨髓表型数据很少。在本研究中，我们确定了与SF3B1突变相关的免疫表型红系、骨髓单核细胞和祖细胞特征。此外，我们阐明了SF3B1突变类型与不同的免疫表型特征相关，并展示了SF3B1突变与5号染色体长臂缺失同时出现对骨髓免疫表型的影响。SF3B1-MDS内的这些基因型-表型关联和表型亚型为进一步优化这一特定MDS亚组的预后评估和治疗策略提供了线索。
