1. Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome.
- Author
-
Lin, Jiang, Yang, Jing, Wen, Xiang-mei, Yang, Lei, Deng, Zhao-qun, Qian, Zhen, Ma, Ji-chun, Guo, Hong, Zhang, Ying-ying, Qian, Wei, and Qian, Jun
- Subjects
- *
MYELODYSPLASTIC syndromes , *SERINE , *GENETIC mutation , *HEMATOLOGIC malignancies , *GENETIC testing , *NUCLEOTIDE sequencing , *KARYOTYPES , *PROGNOSIS - Abstract
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. [ABSTRACT FROM AUTHOR]
- Published
- 2014
- Full Text
- View/download PDF