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目的探讨小肠原发性恶性黑色素瘤的临床病理特点及鉴别诊断要点。方法对1例原发于十二指肠的恶性黑色素瘤进行组织形态学和免疫组化研究,并复习国内外相关文献。结果患者男性,60岁。临床表现为持续性右上腹痛伴黑便1个月;胃肠道钡餐检查示十二指肠降部充盈缺损;术中见十二指肠降部外侧2.5 cm×1.5cm×1 cm大小肿块一枚,侵犯浆膜,肠系膜触及直径3 cm淋巴结,切面均灰红色质软,未见色素;组织学表现为十二指肠黏膜下弥漫浸润的肿瘤细胞,圆形、卵圆形或多边形上皮样,胞质未见明显色素颗粒,胞核明显多形性、异型性,可见红核仁及核分裂象;免疫组化:黑色素抗原标记物HMB45、melan-A、S-100和vimentin均呈强(+)。术后随访38个月无复发。结论原发于小肠尤其十二指肠的恶性黑色素瘤非常罕见,临床症状及影像学表现不特异,少色素或无色素者极易误诊,确诊依赖于病理形态学及免疫组化标记,并需结合病史及全面体检排除转移可能。
Objective To investigate the clinicopathological features and differential diagnosis of primary small intestinal malignant melanoma. Methods One case of malignant melanoma originating in the duodenum was studied by histomorphology and immunohistochemistry, and the related literatures at home and abroad were reviewed. Results The patient was male, 60 years old. Clinical manifestations of persistent right upper quadrant pain with melena for 1 month; gastrointestinal barium meal examination revealed duodenal descending filling defect; intraoperative see duodenal descending 2.5 cm × 1.5cm × 1cm size of a mass Pieces, violations of the serosa, mesentery reach 3 cm in diameter lymph nodes, sections were gray-red soft quality, no pigment; histological manifestations of diffuse infiltration of duodenum submucosal tumor cells, round, oval or polygonal epithelioid , There were no obvious pigment granules in the cytoplasm, the nucleus was obviously pleomorphic, atypia, showing red nucleoli and mitosis; Immunohistochemistry: Melan-A, S-100 and vimentin showed strong +). No follow-up 38 months follow-up. Conclusions Malignant melanoma is rare in primary small intestine, especially in duodenum. The clinical manifestations and imaging findings are not specific. It is very easy to misdiagnosis of patients with oligochrome or no pigment. The diagnosis depends on pathomorphology and immunohistochemical markers Combination of medical history and a comprehensive examination to rule out the possibility of metastasis.