食管原发性恶性黑色素瘤2例临床病理分析

doi:10.3969/j.issn.1674-8115.2026.08.016

上海交通大学学报（医学版） ›› 2026, Vol. 46 ›› Issue (8): 1149-1154.doi: 10.3969/j.issn.1674-8115.2026.08.016

• 病例报告 • 上一篇

食管原发性恶性黑色素瘤2例临床病理分析

葛予钦, 余思韬, 戴顺东(), 季天海()

上海交通大学医学院附属第九人民医院病理科，上海 200011

收稿日期:2026-03-09 接受日期:2026-04-21 出版日期:2026-08-03 发布日期:2026-08-03
通讯作者: 季天海，主任医师，博士；电子信箱：skysea_ji@sina.com
戴顺东，副主任医师，博士；电子信箱：daishundong@qq.com。
作者简介:第一联系人：葛予钦负责研究设计、论文初稿撰写；余思韬负责病例资料收集，参与论文撰写及校对；戴顺东参与影像和病理资料收集、论文校对；季天海负责总体研究设计、资料整理和分析、论文最终审校。所有作者均阅读并同意了最终稿件的提交。
为共同第一作者（co-first authors）。
基金资助:
上海交通大学医学院附属第九人民医院临床医学院医学教育发展与研究项目(JYJX03202206);上海交通大学医学院毕业后医学教育培训与管理创新项目(BYH20220408)

Primary malignant melanoma of the esophagus: two cases with clinicopathological analysis

Ge Yuqin, Yu Sitao, Dai Shundong(), Ji Tianhai()

Department of Pathology, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200011, China

Received:2026-03-09 Accepted:2026-04-21 Online:2026-08-03 Published:2026-08-03
Contact: Ji Tianhai, E-mail: skysea_ji@sina.com
Dai Shundong, E-mail: daishundong@qq.com.
About author:First author contact:Ge Yuqin was responsible for the study design and drafting of the manuscript. Yu Sitao collected the case data and participated in manuscript writing and revision. Dai Shundong participated in the collection of imaging and pathological data and manuscript revision. Ji Tianhai was responsible for the overall study design, data collation and analysis, and final revision of the manuscript. All authors have read the final version of the manuscript and consented to its submission.
Supported by:
Medical Education Development and Research Project, Clinical Medical School of Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine(JYJX03202206);Postgraduate Medical Education Training and Management Innovation Project, Shanghai Jiao Tong University School of Medicine(BYH20220408)

摘要/Abstract

摘要：

食管原发性恶性黑色素瘤是一种极为罕见的恶性肿瘤。为探讨其临床病理特征，该研究报道了2例病例的临床病理学特征、免疫表型及预后信息。2例患者分别为74岁女性和64岁男性，前者因进食异物感就诊，后者因腹胀就诊，均无皮肤等其他部位的原发性黑色素瘤病史。病灶分别位于食管上段和下段，大体表现分别呈巨大溃疡或轻微隆起结节状。镜下观察显示，2例病灶表面鳞状上皮均有局部缺失，残留鳞状上皮内均可见原位黑色素瘤成分。免疫组织化学检测显示，2例肿瘤细胞均强表达T细胞识别黑色素瘤相关抗原1（melanoma antigen recognized by T-cells 1，MelanA）和性别决定区Y框蛋白10（SRY-box transcription factor 10，Sox-10），部分表达钙结合蛋白S100（S100 calcium-binding protein，S100）和小眼畸形相关转录因子（microphthalmia-associated transcription factor，MiTF）。该研究表明，食管原发性恶性黑色素瘤内镜下表现易与其他食管原发性肿瘤相混淆，因此病理诊断在明确该疾病诊断中可发挥关键作用。

关键词: 食管原发性恶性黑色素瘤, 病理诊断, 免疫表型

Abstract:

Primary malignant melanoma of the esophagus (PMME) is an extremely rare malignant tumor. To investigate its clinicopathological characteristics, this study reports the clinicopathological features, immunophenotypes, and prognostic information of two cases. The patients were a 74-year-old female and a 64-year-old male, who presented with a foreign body sensation during swallowing and abdominal distension, respectively, with no history of primary melanoma in the skin or other sites. The lesions were located in the upper and lower esophagus, and appeared grossly as a large ulcer and a slightly elevated nodule, respectively. Microscopic examination revealed localized loss of the surface squamous epithelium in both cases, with in situ melanoma components observed within the residual epithelium. Immunohistochemical analysis demonstrated that tumor cells in both cases strongly expressed melanoma antigen recognized by T-cells 1 (MelanA) and SRY-box transcription factor 10 (Sox-10), with partial expression of S100 calcium-binding protein (S100) and microphthalmia-associated transcription factor (MiTF). This study indicates that PMME is a rare primary esophageal tumor whose endoscopic appearance can easily be confused with those of other primary esophageal malignancies. Therefore, pathological diagnosis plays a crucial role in establishing the diagnosis of this disease.

Key words: primary malignant melanoma of the esophagus (PMME), pathological diagnosis, immunophenotype

中图分类号:

R735.1

葛予钦, 余思韬, 戴顺东, 季天海. 食管原发性恶性黑色素瘤2例临床病理分析[J]. 上海交通大学学报（医学版）, 2026, 46(8): 1149-1154.

Ge Yuqin, Yu Sitao, Dai Shundong, Ji Tianhai. Primary malignant melanoma of the esophagus: two cases with clinicopathological analysis[J]. Journal of Shanghai Jiao Tong University (Medical Science), 2026,(8): 1149-1154.

图/表 3

图1 病例1的消化内镜图像Note： A large ulcerated lesion at the upper esophageal inlet, covered with a white coating.

Fig 1 Digestive endoscopic image of Case 1

图2 2例患者镜下组织病理学图像（HE染色）Note： A. Nodular clustered tumor cells with partial loss of the overlying squamous epithelium. B. Faint brown cytoplasmic pigment granules in a subset of tumor cells. C. Atrophic thinning of the residual squamous epithelium with scattered intraepithelial in situ melanoma cells. D. Scattered multinucleated tumor giant cells and Touton giant cells. Magnification: ×40, ×100, ×40, ×400, respectively.

Fig 2 Histopathological images of the two cases (HE staining)

图3 2例患者的免疫组织化学染色结果（EnVision两步法）Note： A. Diffuse expression of Sox-10 in melanoma cells. B. Strong diffuse expression of MelanA in in situ and invasive melanoma cells. C. Strong diffuse expression of p16 in melanoma cells. D. Heterogeneous expression of MiTF, with staining intensity ranging from strong to weak. E. Positive expression of p40 in overlying squamous epithelium and negative expression in melanoma cells. Magnification: ×40, ×100, ×40, ×40, ×40, respectively.

Fig 3 Immunohistochemical staining results of the two cases (EnVision two-step method)

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食管原发性恶性黑色素瘤2例临床病理分析

Primary malignant melanoma of the esophagus: two cases with clinicopathological analysis

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