China Oncology ›› 2016, Vol. 26 ›› Issue (5): 399-403.doi: 10.3969/j.issn.1007-3969.2016.05.008

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Analysis of KIT gene mutation in melanoma patients

LÜ Jiaojie, KONG Yunyi, CAI Xu, ZHOU Xiaoyan   

  1. Department of Pathology, Fudan University Shanghai Cancer Center, Department of Oncology, Shanghai Medical College, Fudan University, Shanghai 200032, China
  • Online:2016-05-30 Published:2016-06-23
  • Contact: KONG Yunyi E-mail: kyunyidb@126.com

Abstract: Background and purpose: KIT mutation plays an important role during the pathogenesis of melanoma. This study was designed to investigate the mutation status of KIT in different subtypes of melanoma. Methods: A total number of 144 cases of melanoma were analyzed for KIT mutation (exon 9, 11, 13 and 17) by DNA sequencing using paraffin-embedded tissues. Results: The total incidence of KIT mutation in melanoma was 9.0% (13/144). KIT mutations in acral melanoma, mucosal melanoma, melanoma on skin with chronic sun-induced damage (CSD) and melanoma on skin without chronic sun-induced damage (non-CSD) was 7.7% (4/52), 20% (7/35), 14.3% (1/7) and 2.8% (1/36), respectively. Among 13 cases with KIT mutation, 1 mutation lay in exon 9, 9 lay in exon 11 and 3 in exon 13. L576P in exon 11 was the most common type of mutation. Conclusion: The most prevalent type of KIT mutation in patients lies in exon 11. KIT mutation could be the potential drug target in melanoma therapy.

Key words: KIT, Gene mutation, Melanoma