31例维吾尔族黏膜黑素瘤临床与c-kit基因突变研究  

Mucosal melanoma： clinical assessment and mutation analysis of the c-kit gene in 31 Uygur patients

作　　者：柴莉[1] 康晓静[2] 孙振柱[3] 高峰[4] 时晓辉[2] 于世荣[2] 陈文静[2] 吴秀娟[2] 丁媛[2] 

机构地区：[1]新疆医科大学,乌鲁木齐830001 [2]新疆维吾尔自治区人民医院皮肤性病科 [3]新疆维吾尔自治区人民医院病理科 [4]新疆维吾尔自治区人民医院消化科

出　　处：《中华皮肤科杂志》2015年第6期387-390,共4页Chinese Journal of Dermatology

基　　金：乌鲁木齐市科学技术计划项目（G131310001）;2012年度留学人员回国创业项目

摘　　要：目的 分析维吾尔族黏膜黑素瘤临床特点,检测c-kit基因突变,探讨与黏膜黑素瘤临床特征之间的关系.方法 收集经病理确诊的31例维吾尔族黏膜黑素瘤患者的临床资料,采用PCR及DNA直接测序法进行c-kit基因突变检测.结果 维吾尔族黏膜黑素瘤男女性别比为1∶1.2,平均年龄61.35岁.60 ～ 70岁为高发年龄段,51 ～ 59岁为次高发年龄段.头颈部为最常见的发病部位,其中以鼻腔黏膜居多;其次为泌尿生殖道和直肠黏膜.31例黏膜黑素瘤有4例发生c-kit基因突变（12.9％,4/31）,突变均位于11外显子,以L576P突变为主.4例突变中,3例发生于直肠黏膜,1例发生于尿道黏膜.直肠黏膜与其他黏膜部位c-kit基因突变率分别为3/7、4.17％（1/24）.发生淋巴结转移患者c-kit基因突变率高于无淋巴结转移者（P=0.043）.c-kit基因突变与性别、年龄无相关性（P＞0.05）.结论 维吾尔族黏膜黑素瘤好发于老年人,发病部位以头颈部黏膜为主.c-kit基因突变与黏膜黑素瘤发生部位、有无淋巴结转移密切相关.Objective To analyze clinical characteristics of and c-kit gene mutations in Uygur patients with mucosal melanoma,and to explore the relationship between c-kit gene mutations and clinical characteristics of mucosal melanoma.Methods Clinical data were collected from 31 Uygur patients with pathologically confirmed mucosal melanoma.DNA was extracted from paraffin-embedded melanoma tissue samples from these patients.Then,PCR and direct DNA sequencing were performed to detect c-kit gene mutations.Statistical analysis was carried out by using Fisher＆#39;s exact test.Results Of the 31 Uygur patients,the male/female ratio was 1 ∶ 1.2,and the average age was 61.35 years.The incidence of mucosal melanoma was highest in the age group of 20-44 years,followed by the age group of 51-59 years.Head and neck,especially nasal mucosa,were the most common sites affected by mucosal melanoma,followed by genitourinary and rectal mucosa.C-kit gene mutations were detected in 4 （12.9%,4/31） out of the 31 mucosal melanoma cases,which were located in exon 11 and included L576P mutation in 3 cases and W557R mutation in 1 case.Of the 4 patients carrying C-kit gene mutations,3 had rectal mucosal melanoma and 1 urethral mucosal melanoma.The frequency of c-kit gene mutations was 3/7 in patients with rectal mucosal melanoma and 4.17% （1/24） in those with melanoma at the other mucosal sites.Additionally,the frequency of c-kit gene mutations was significantly higher in patients with lymph node metastasis than in those without （P =0.043）,but similar between male and female patients or between different age groups （both P 〉 0.05）.Conclusions Mucosal melanoma mainly occurs in the elderly in Uygur population,with mucosa of the head and neck as the predilection sites.Mutations of the c-kit gene are closely associated with the site and lymph node metastasis of mucosal melanoma.

关 键 词：黑色素瘤 黏膜 维吾尔族 突变 

分 类 号：R730.2[医药卫生—肿瘤]