Publication Date:
2014-12-06
Description:
Ring sideroblasts (RS) characterize a group of myelodysplastic syndromes (MDS) categorized in the WHO classification as refractory anemia with RS (RARS) or refractory cytopenia with multilineage dysplasia and RS (RCMD-RS), according to the presence of 15% or more bone marrow RS and dysplasia in one or more myeloid lineages. A high prevalence of somatic mutations in SF3B1 was reported in MDS with RS [N Engl J Med 2011;365:1384-95], and recent unsupervised analyses suggested that MDS with SF3B1 mutation represent a homogeneous subset [Blood 2014 Jun 26]. In this study, we performed a comprehensive mutation analysis of genes implicated in myeloid disorders in a large and well-characterized cohort of myeloid neoplasms with 1% or more RS with the aim to identify mutation patterns that affect disease phenotype and clinical outcome. The study population consisted of 309 patients (pts), including: a) 244 with MDS, of whom 160 assigned to sideroblastic categories (RARS, RCMD-RS) and 84 to other WHO categories [34 RA or RCMD, 7 MDS with isolated del(5q), 20 RAEB-1, 23 RAEB-2]; b) 51 with myelodysplastic/myeloproliferative neoplasms (MDS/MPN: 9 CMML, 42 RARS-T); c) 14 with AML-MDS. SF3B1 mutations were observed in 151/244 pts with MDS and RS (62%). Within sideroblastic categories, SF3B1 mutation was found in 81/91 cases of RARS (89%), and 48/69 RCMD-RS (70%). Among pts classified in other MDS categories, significantly lower rate of SF3B1 mutations (22/84, P
Print ISSN:
0006-4971
Electronic ISSN:
1528-0020
Topics:
Biology
,
Medicine