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原发性肛管直肠恶性黑色素瘤的临床与影像学特征分析OA

Clinical and imaging features analysis of primary anorectal malignant melanoma

中文摘要英文摘要

目的 分析原发性肛管直肠恶性黑色素瘤(anorectal malignant melanoma,ARMM)的临床及影像学特征,提高其早期诊断及临床治疗水平.方法 回顾性分析 2016年 12月至 2025年 10月在复旦大学附属中山医院经病理证实的31例原发性 ARMM患者的临床资料、影像学特征、治疗方法、病理结果及随访信息.结果 31例患者中,男性 11例、女性 20例,年龄 65(55,71)岁.21例(67.7%)患者以便血为首发症状,4例无症状患者体检时发现肿瘤.所有患者甲胎蛋白、癌胚抗原、糖类抗原 19-9均为阴性.31例均为单发 ARMM,其中 14例(45.2%)位于肛管直肠区.CT表现为息肉状/蕈伞状肿块、无肠梗阻、中度至明显强化;MRI以特异性 T1WI高信号、弥散受限;PET/CT以高代谢为特征.Ballantyne分期:Ⅰ期 10例、Ⅱ期 11例、Ⅲ期 10例.1例行内镜下切除术,2例行经肛门直肠病损切除术,17例行腹会阴联合肿瘤切除术(Miles术)+常规淋巴结清扫.20例手术患者免疫组化主要指标 S-100蛋白、HMB-45、Melan-A阳性率分别为 100%、95%、100%,中位 Ki-67增殖指数为 65%.手术患者术后中位随访 34.5(2~90)个月,随访期间 8例(40%)发生复发转移(中位转移时间为术后 11个月),主要转移至肝脏和肺.结论 原发性 ARMM好发于中老年女性,便血为最常见首发症状,结合特征性影像学表现及免疫组化结果可提高诊断率.ARMM恶性程度高,手术为主要治疗手段,患者总体预后较差.

Objective To analyze the clinical and imaging features of primary anorectal malignant melanoma(ARMM)and to improve the level of its early diagnosis and clinical management.Methods A retrospective analysis was performed on the clinical data,multimodal imaging features,treatment methods,pathological results,and follow-up information of 31 patients with pathologically diagnosed ARMM at Zhongshan Hospital,Fudan University from December 2016 to October 2025.Results Among the 31 patients,there were 11 males and 20 females,with age of 65(55,71)years.Twenty-one patients presented with hematochezia as the initial symptom(67.7%),and four asymptomatic patients were detected incidentally by physical examination.All the patients showed negative alpha-fetoprotein,carcinoembryonic antigen,and carbohydrate antigen 19-9.All 31 cases were solitary ARMM,of which 14(45.2%)were located in the anorectal region.CT was characterized by polypoid or fungating masses,absence of intestinal obstruction,moderate to marked enhancement;MRI was characterized by specific T1WI hyperintensity and restricted diffusion;PET/CT is characterized by high metabolism.According to Ballantyne staging,10 cases of stage Ⅰ,11 cases of stage Ⅱ and 10 cases of stage Ⅲ were found.Endoscopic resection was performed in 1 patient,transanal resection in 2 patients,and abdominoperineal resection(Miles operation)with routine lymph node dissection in 17 patients.The positive rates of S-100,HMB-45 and Melan-A in 20 surgical patients were 100%,95%and 100%,respectively,with a median Ki-67 proliferation index of 65%.Median postoperative follow-up duration of surgical patients was 34.5(2-90)months.During follow-up,8 patients(40%)developed recurrence and/or metastasis(median time was 11 months after surgery),with the liver and lungs being the most common metastatic sites.Conclusions Primary ARMM predominantly occurs in middle-aged and elderly women,hematochezia is the most common initial symptom.Diagnostic efficacy can be improved by combining characteristic imaging manifestations and immunohistochemical findings.ARMM is a highly malignant tumor with an overall poor prognosis,surgery remains the main therapeutic approach.

连丹岚;黄小兰;王福南;丁玉芹;周国锋

复旦大学附属中山医院(厦门)放射诊断科,厦门 361015||复旦大学附属中山医院放射诊断科,上海 200032复旦大学附属中山医院(厦门)放射诊断科,厦门 361015||复旦大学附属中山医院放射诊断科,上海 200032复旦大学附属中山医院(厦门)放射诊断科,厦门 361015||复旦大学附属中山医院放射诊断科,上海 200032复旦大学附属中山医院放射诊断科,上海 200032||上海市影像医学研究所,上海 200032复旦大学附属中山医院(厦门)放射诊断科,厦门 361015||复旦大学附属中山医院放射诊断科,上海 200032||上海市影像医学研究所,上海 200032

医药卫生

肛管直肠肿瘤恶性黑色素瘤诊断影像学特征随访

anorectal neoplasmmalignant melanomadiagnosisimaging featurefollow up

《中国临床医学》 2026 (4)

622-628,7

福建省自然科学基金(2022J011417).Supported by Natural Science Foundation of Fujian Province(2022J011417).

10.12025/j.issn.1008-6358.2026.20260545

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