Gene mutations and clinical prognosis of mucosal melanoma in different locations of head and neck

Abstract

Background

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.

Aims/Objectives

Analyzed the phenotypes of C-Kit, NRAS, PDGFRA and BRAF genes in patients with in different locations to explore the characteristics of gene mutations.

Material and Methods

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.

Results

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.

Conclusions and Significance

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.

Chinese Abstract

背景：黏膜黑色素瘤是中国第二大最常见的黑色素瘤亚型, 头颈部是本病的主要发病部位之一。

目的：分析不同的位置患者的C-Kit、NRAS、PDGFRA 和 BRAF 基因的表型, 以探索基因突变的特征。

材料和方法：本研究共纳入 96 名患者。 通过PCR 扩增和 Sanger 测序来分析C-Kit（外显子 9、11、13、17 和 18）、NRAS（外显子 1 和 2）、PDGFRA（外显子 12、14 和 18）和 BRAF（外显子 11 和 15）。

结果：C-Kit突变14例（14.58%）, BRAF突变6例（6.25%）, PDGFRA突变23例（23.96%）, NRAS 突变12 例（12.50%）。 NRAS 突变 (p =0.037, 95% CI:1.050–4.572) 是影响远处转移的独立因素, 最常见于鼻腔/鼻旁窦 (p = .043), 而 BRAF 突变在除了鼻腔/鼻旁窦以外的部位更常见（p = 0.008）并且与局部复发相关。

结论与意义：不同部位黏膜黑色素瘤基因表型存在差异。鼻腔和鼻旁窦的病变应与其他病变部位如鼻咽分开评估。

Keywords:

• Head and neck mucosal melanoma
• gene detection
• C-kit
• NRAS
• PDGFRA
• BRAF

Disclosure statement

No potential conflict of interest was reported by the authors.