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消化道原发性恶性黑色素瘤的临床病理观察

Clinicopathologic Observations on Primary Malignant Melanoma of the Digestive Tract.

作者信息

Zhang Kaijian, Fu Yao

机构信息

Department of Pathology, The First Affiliated Hospital of Anhui Medical University, Anhui, P.R. China.

出版信息

Int J Surg Pathol. 2025 Oct;33(7):1570-1582. doi: 10.1177/10668969251329557. Epub 2025 Apr 4.

Abstract

ObjectiveWe aimed to investigate the clinical features, histopathological characteristics, immunohistochemical profile, diagnostic and differential diagnostic approaches, and treatment strategies for primary malignant melanoma of the digestive tract.MethodsA retrospective analysis was conducted on 21 patients diagnosed with primary malignant melanoma of the digestive tract between January 2011 and July 2024. The clinical, morphological, and immunohistochemical features of these tumors were systematically evaluated.ResultsThe study cohort included 21 patients (age range: 42-90 years; mean age: 64.8 years) diagnosed with primary malignant melanoma of the digestive tract. All patients underwent surgical treatment, with the majority of tumors located in the anorectal region (15/21), followed by the small intestine (4/21) and esophagus (2/21). Histopathological examination revealed nodular proliferation patterns under low magnification. The tumors were predominantly composed of sheets of epithelioid or spindle-shaped cells that exhibited marked pleomorphism. Melanin pigmentation was identified in 11 tumors. High-power microscopic evaluation demonstrated significant cellular polymorphism, with round, vesicular nuclei containing prominent eosinophilic nucleoli. Frequent mitotic figures were observed throughout the specimens. Notably, two tumors exhibited signet-ring cell-like morphology, characterized by cytoplasmic clearing and peripheral nuclear displacement. Analysis of tumor invasion depth revealed that seven tumors infiltrated the submucosa, six tumors infiltrated the muscularis propria, and eight tumors infiltrated the entire wall. Lymph node metastasis was detected in six patients.ConclusionPrimary malignant melanoma of the digestive tract represents a rare malignancy requiring high clinical suspicion. Endoscopic identification of pigmented lesions should prompt consideration of this diagnosis. Definitive diagnosis requires histopathological confirmation through H&E staining supplemented by immunohistochemical markers (eg, S-100, HMB45, melan-A), combined with imaging tests to exclude metastatic lesions from cutaneous or ocular primary sites.

摘要

目的

我们旨在研究消化道原发性恶性黑色素瘤的临床特征、组织病理学特征、免疫组化谱、诊断及鉴别诊断方法以及治疗策略。

方法

对2011年1月至2024年7月期间确诊的21例消化道原发性恶性黑色素瘤患者进行回顾性分析。系统评估这些肿瘤的临床、形态学和免疫组化特征。

结果

研究队列包括21例确诊为消化道原发性恶性黑色素瘤的患者(年龄范围:42 - 90岁;平均年龄:64.8岁)。所有患者均接受了手术治疗,大多数肿瘤位于肛管直肠区域(15/21),其次是小肠(4/21)和食管(2/21)。组织病理学检查在低倍镜下显示结节状增殖模式。肿瘤主要由成片的上皮样或梭形细胞组成,表现出明显的多形性。11例肿瘤中发现黑色素沉着。高倍镜评估显示细胞多形性显著,圆形、泡状核含有明显的嗜酸性核仁。在整个标本中观察到频繁的有丝分裂象。值得注意的是,2例肿瘤表现出印戒样细胞形态,其特征为细胞质透明和细胞核周边移位。肿瘤浸润深度分析显示,7例肿瘤浸润至黏膜下层,6例肿瘤浸润至固有肌层,8例肿瘤浸润至全层。6例患者检测到淋巴结转移。

结论

消化道原发性恶性黑色素瘤是一种罕见的恶性肿瘤,需要高度的临床怀疑。内镜下发现色素沉着病变应促使考虑这一诊断。明确诊断需要通过苏木精 - 伊红染色(H&E)并辅以免疫组化标记物(如S - 100、HMB45、黑色素A)进行组织病理学确认,同时结合影像学检查以排除皮肤或眼部原发部位的转移病变。

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