1. Characterizations of Gene Alterations in Melanoma Patients from Chinese Population
- Author
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Linqing Li, Tianmin Xiang, Hongwei Wu, Jianfan Liu, Yuan Wu, Xuezheng Xu, Shuo Yang, Jie Bu, Xin Wang, Zhenzhen Zhang, Zixun Dai, Xianan Li, Yi Luo, and Xinyu Yao
- Subjects
Male ,Proto-Oncogene Proteins B-raf ,Article Subject ,Gene mutation ,medicine.disease_cause ,General Biochemistry, Genetics and Molecular Biology ,Metastasis ,Germline mutation ,Asian People ,medicine ,Humans ,Gene ,Melanoma ,neoplasms ,Skin ,Mutation ,General Immunology and Microbiology ,business.industry ,Cancer ,General Medicine ,Oncogenes ,Middle Aged ,medicine.disease ,Prognosis ,Cohort ,Cancer research ,Disease Progression ,Medicine ,Female ,business ,Research Article - Abstract
Melanoma is a human skin malignant tumor with high invasion and poor prognosis. The limited understanding of genomic alterations in melanomas in China impedes the diagnosis and therapeutic strategy selection. We conducted comprehensive genomic profiling of melanomas from 39 primary and metastatic formalin-fixed paraffin-embedded (FFPE) samples from 27 patients in China based on an NGS panel of 223 genes. No significant difference in gene alterations was found between primary and metastasis melanomas. The status of germline mutation, CNV, and somatic mutation in our cohort was quite different from that reported in Western populations. We further delineated the mutation patterns of 4 molecular subgroups (BRAF, RAS, NF1, and Triple-WT) of melanoma in our cohort. BRAF mutations were more frequently identified in melanomas without chromic sun-induced damage (non-CSD), while RAS mutations were more likely observed in acral melanomas. NF1 and Triple-WT subgroups were unbiased between melanomas arising in non-CSD and acral skin. BRAF, RAS, and NF1 mutations were significantly associated with lymph node metastasis or presence of ulceration, implying that these cancer driver genes were independent prognostic factors. In summary, our results suggest that mutational profiles of malignant melanomas in China are significantly different from Western countries, and both gene mutation and amplification play an important role in the development and progression of melanomas.
- Published
- 2020
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