68例肛管直肠黏膜黑色素瘤临床病理特征及预后  

Clinicopathological features and prognosis of anorectal melanoma:A report of 68 cases

作　　者：赖玉梅[1] 李忠武[1] 李欢[2] 吴艳 时云飞[1] 周立新[1] 楼雨彤 崔传亮[3] LAI Yu-mei;LI Zhong-wu;LI Huan;WU Yan;SHI Yun-fei;ZHOU Li-xin;LOU Yu-tong;CUI Chuan-liang(Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Department of Pathology,Peking University Cancer Hospital&Institute,Beijing 100142,China;Department of Pathology,Beijing Tsinghua Changgung Hospital,School of Clinical Medicine,Tsinghua University,Beijing 102218,China;Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education),Department of Melanoma and Sarcoma,Peking University Cancer Hospital&Institute,Beijing 100142,China)

机构地区：[1]北京大学肿瘤医院暨北京市肿瘤防治研究所病理科,恶性肿瘤发病机制及转化研究教育部重点实验室,北京100142 [2]清华大学附属北京清华长庚医院病理科,清华大学临床医学院,北京102218 [3]北京大学肿瘤医院暨北京市肿瘤防治研究所黑色素瘤及肉瘤内科,恶性肿瘤发病机制及转化研究教育部重点实验室,北京100142

出　　处：《北京大学学报（医学版）》2023年第2期262-269,共8页Journal of Peking University:Health Sciences

基　　金：北京大学肿瘤医院科学研究基金(2021-13);北京大学百度基金资助项目(2020BD036);首都卫生发展科研专项自主创新项目(首发2022-02-1024、首发2018-2-1022);首都临床特色应用研究(Z141107002514077)。

摘　　要：目的:总结肛管直肠黏膜黑色素瘤(anorectal mucosal melanoma,ARMM)的临床病理特征,分析其预后相关因素。方法:回顾性分析2010—2018年北京大学肿瘤医院收治的原发性ARMM手术切除标本共68例,复阅病理切片评估病理特征,分期采用Slingluff分期法。结果:(1)临床特征:患者诊断时中位年龄61.5岁,男女比例1∶1.62,首发临床表现最常见的是便血(49例);肿瘤部位最常见的是肛管直肠(66.2%),其次为直肠(20.6%);诊断时分期为Ⅰ期28例(局限期,41.2%),Ⅱ期25例(区域淋巴结转移期,36.8%),Ⅲ期15例(远处转移期,22.1%);5例行局部扩大切除术,其余为腹会阴联合切除术,48例术后接受了辅助治疗。(2)病理特征:大体检查88.2%为隆起型肿块,肿瘤中位最大径3.5 cm,中位厚度1.25 cm,黏膜肌以下浸润深度0~5.00 cm(中位1.00 cm);肿瘤浸润达固有肌层者27例,达肠周脂肪组织者16例;67.6%为无色素性或色素不明显;细胞形态最常见的是上皮样(45例,66.2%);89.7%有溃疡形成,35.3%可见坏死,55.9%有血管淋巴管侵犯,30.9%有神经周围侵犯,核分裂象计数中位值18/mm^(2);免疫组织化学检测S100、HMB-45和Melan-A阳性率分别为92.0%、92.6%、98.0%,Ki-67增殖指数中位值50%;53例进行了CKIT、BRAF及NRAS基因突变检测,突变率分别为17.0%(9例),3.8%(2例),9.4%(5例)。(3)预后:66例患者获得了随访资料,中位随访17个月,中位生存时间17.4个月,1年、2年、5年的总生存率分别为76.8%、36.8%、17.2%;诊断时淋巴结转移率56.3%;49例(84.5%)发生了远隔部位转移,最常见的转移部位是肝;单因素分析显示,肿瘤最大径(>3.5 cm)、黏膜肌以下浸润深度(>1.0 cm)、坏死、血管淋巴管侵犯、BRAF基因突变、术后未行辅助治疗、肿瘤浸润层次深、诊断时分期晚均为总生存期的预后不良因素;多因素分析显示,血管淋巴管侵犯、BRAF基因突变为影响总生存期的独立危险因素,诊断时分期相关的P值接近临界值�Objective:To investigate the clinicopathological characteristics of anorectal mucosal melanoma(ARMM),and to evaluate the prognostic factors.Methods:A total of 68 primary ARMM surgical specimens from^(2)010 to 2018 were retrospectively studied.Slides were reviewed to evaluate pathological features.Slingluff staging method was used for staging.Results:(1)Clinical features:The median age at diagnosis in this group was 61.5 years,with a male-to-female ratio 1∶1.62.The most common complaint was blooding(49 cases).For anatomic site,anorectum was the prevalent(66.2%),followed by rectum(20.6%).At the time of diagnosis,28 cases were stageⅠ(localized stage,41.2%),25 cases were stageⅡ(regional lymph node metastasis,36.8%),and 15 cases were stageⅢ(distant metastasis,22.1%).Five patients underwent wide local excision,the rest abdominoperineal resection,and 48 patients received adjuvant therapy after surgery.(2)Pathological features:Grossly 88.2%of the tumors were exophytic polypoid masses,with the median tumor size 3.5 cm and the median tumor thickness 1.25 cm.Depth of invasion below lamina muscularis mucosae ranged from 0-5.00 cm(median 1.00 cm).The deepest site of tumor invasion reached muscular layer in 27 cases,and perirectal tissue in 16 cases.Melanin pigmentation was absent or not obvious in 67.6%of the cases.The predominant cytology was epithelioid(45 cases,66.2%).The rate for ulceration,necrosis,lymphovascular invasion,and perineural invasion was 89.7%,35.3%,55.9%,and 30.9%,respectively.The median mitotic count was 18/mm^(2).The positive rate of S100,HMB-45 and Melan-A were 92.0%,92.6%and 98.0%,respectively.The median of Ki-67 was 50%.The incidences of mutations within CKIT,BRAF and NRAS genes were 17.0%(9 cases),3.8%(2 cases)and 9.4%(5 cases),respectively.(3)Prognosis:Survival data were available in 66 patients,with a median follow-up of 17 months and a median survival time of 17.4 months.The 1-year,2-year and 5-year overall survival rate was 76.8%,36.8%and 17.2%,respectively.The rate of lymphatic metastasis

关 键 词：黏膜黑色素瘤 肛管直肠肿瘤 临床病理特征 预后 

分 类 号：R735.3[医药卫生—肿瘤]