神经母细胞瘤RAS病毒癌基因同源物
PDGFRA公司
粘膜黑色素瘤
外显子
突变
桑格测序
医学
鼻腔
黑色素瘤
基因突变
病理
癌症研究
作者
Guo Wei,Gaofei Yin,Chuanliang Cui,Yan Kong,Zhigang Huang,Xiaohong Chen
标识
DOI:10.1080/00016489.2021.2015540
摘要
Mucosal melanoma is the second most common subtype of melanoma in China and head and neck region is one of the main sites of this disease.Analyzed the phenotypes of C-Kit, NRAS, PDGFRA and BRAF genes in patients with in different locations to explore the characteristics of gene mutations.96 patients were included in this study. C-Kit (exons 9, 11, 13, 17 and 18), NRAS (exons 1 and 2), PDGFRA (exons 12, 14 and 18) and BRAF (exons 11 and 15) were analyzed by PCR amplification and Sanger sequencing.14 (14.58%) patients had C-Kit mutation, 6 (6.25%) had BRAF mutation, 23 (23.96%) had PDGFRA mutation, and 12 (12.50%) had NRAS mutation. The NRAS mutation (p = 0.037, 95%CI: 1.050-4.572) was an independent factor affecting distant metastasis and was most commonly found in the nasal cavity/paranasal sinuses (p = .043) while the BRAF mutation was more common in locations other than the nasal cavity/paranasal sinus (p = .008) and was associated with local recurrence.Gene phenotypes of mucosal melanoma in different locations has differences. Lesions in the nasal cavity and paranasal sinus should be assessed separately from other parts such as the nasopharynx.
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