HealthDay News — New mutations have been identified with next-generation sequencing (NGS) in refractory anemia with ring sideroblasts and thrombocytosis (RARS-T), which are prognostic for survival, according to a study published online February 13 in the American Journal of Hematology.

Mrinal M. Patnaik, MD, from the Mayo Clinic in Rochester, Minnesota, and colleagues examined predictors of survival in RARS-T. Clinical and laboratory samples from 82 patients were analyzed and a 27-gene NGS assay was applied to 48 marrow samples obtained at diagnosis.

The researchers found that most patients (94%) had one or more mutations, with the most common mutations being SF3B1 (85%), JAK2V617F (33%), ASXL1 (29%), DNMT3A (13%), SETBP1 (13%), and TET2 (10%). Anemia and abnormal karyotype were independent prognostic factors for inferior survival in a multivariable survival analysis. In patients with NGS information, an association between poor survival was seen with the presence of SETBP1 or ASXL1 in univariate analysis (P = 0.08), while absence of these mutations was favorable (P = 0.04). A hazard ratio-weighted prognostic model, which included abnormal karyotype, ASXL1 and/or SETBP1 mutations, and anemia, was able to classify patients into risk categories, with median survivals of 80, 42, and 11 months, respectively, for low, intermediate, and high risk (P = 0.01).

“In summary, we confirm the unique mutational landscape in RARS-T and provide a novel mutation-enhanced prognostic model,” the authors write.

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