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

Author

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  • Jiang Lin
  • Jing Yang
  • Xiang-mei Wen
  • Lei Yang
  • Zhao-qun Deng
  • Zhen Qian
  • Ji-chun Ma
  • Hong Guo
  • Ying-ying Zhang
  • Wei Qian
  • Jun Qian

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.

Suggested Citation

  • Jiang Lin & Jing Yang & Xiang-mei Wen & Lei Yang & Zhao-qun Deng & Zhen Qian & Ji-chun Ma & Hong Guo & Ying-ying Zhang & Wei Qian & Jun Qian, 2014. "Detection of SRSF2-P95 Mutation by High-Resolution Melting Curve Analysis and Its Effect on Prognosis in Myelodysplastic Syndrome," PLOS ONE, Public Library of Science, vol. 9(12), pages 1-12, December.
  • Handle: RePEc:plo:pone00:0115693
    DOI: 10.1371/journal.pone.0115693
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    References listed on IDEAS

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    1. Eric T. Wang & Rickard Sandberg & Shujun Luo & Irina Khrebtukova & Lu Zhang & Christine Mayr & Stephen F. Kingsmore & Gary P. Schroth & Christopher B. Burge, 2008. "Alternative isoform regulation in human tissue transcriptomes," Nature, Nature, vol. 456(7221), pages 470-476, November.
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    1. Xue Zheng & Zhi Zhan & Duolan Naren & Jing Li & Tianyou Yan & Yuping Gong, 2017. "Prognostic value of SRSF2 mutations in patients with de novo myelodysplastic syndromes: A meta-analysis," PLOS ONE, Public Library of Science, vol. 12(9), pages 1-12, September.

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