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Hotspot mutations of serine/arginine-rich splicing factor 2 ( SRSF2 ) gene have been identified in a proportion of hematologic malignancies including myelodysplastic syndrome (MDS). The aim of the present study was to develop a new approach to screen  SRSF2  mutation and analyze the clinical relevance of  SRSF2  mutations in Chinese MDS. A protocol based on high-resolution melting analysis (HRMA) was established to screen  SRSF2- P95 mutation in 108 MDS patients and was compared with Sanger sequencing. The clinical relevance of  SRSF2  mutations was further evaluated. HRMA identified five (4.6%) cases with  SRSF2  mutation, completely validated by Sanger sequencing without false positive or negative results. The sensitivities of HRMA and Sanger sequencing were 10% and 25% for the detection of  SRSF2 -P95H mutation, respectively, against the background of wild-type DNA. Patients with  SRSF2  mutation had shorter overall survival time than those with wild-type  SRSF2  in both the whole cohort of cases and those with normal karyotype ( P  = 0.069 and 0.023, respectively). Multivariate analysis confirmed  SRSF2  mutation as an independent risk factor in both patient populations. We established a fast, high-throughput, and inexpensive HRMA-based method to screen  SRSF2  mutation, which could be used in clinical diagnostic laboratories.  SRSF2  mutations were significantly associated with mortality rate in the MDS affected Chinese.

Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome