Unique genetic mutations occur in people with refractory anemia with ring sideroblasts and thrombocytosis, according to an analysis involving 82 individuals.

Investigators looked at clinical and laboratory variables in the participants, and applied a 27-gene NGS assay to 48 marrow samples obtained at diagnosis. Among the results:

• 94% of patients had ≥1 mutations

• Common mutations were SF3B1 (85%), JAK2V617F (33%), ASXL1 (29%), DNMT3A (13%), SETBP1 (13%), and TET2 (10%).

• In a survival analysis of 82 patients, anemia and abnormal karyotype independently predicted inferior survival.

• In 48 patients with NGS information, there was a link between poor survival and presence of SETBP1 or ASXL1 mutations.

Citation: Patnaik M, Lasho T, Finke C, et al. Predictors of survival in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T) and the role of next-generation sequencing. Am J Hematol. 2016;91(5):492-498. doi:10.1002/ajh.24332.