原发性食管恶性黑色素瘤：一例病例报告

文献信息

中文摘要

背景： 原发性食管恶性黑色素瘤（PMME）是一种极为罕见的恶性肿瘤，预后较差。PMME占所有食管恶性肿瘤的0.1%至0.2%。由于其罕见性和异质性，目前缺乏标准化的诊断和治疗指南，使得临床管理具有挑战性。在此，我们报告此病例以描述其临床病理特征、治疗策略和临床病程。
病例描述： 一名65岁亚洲男性患者，有吞咽困难病史两个月。上消化道内镜检查发现中下段胸段食管内有一个大的腔内肿块，内镜活检提示食管恶性黑色素瘤。术后组织病理学和免疫组织化学检查证实为恶性黑色素瘤。针对其他潜在原发部位的靶向体格检查和正电子发射断层扫描/计算机断层扫描（PET/CT）成像未发现其他原发病灶，支持原发性食管起源。患者接受了根治性手术切除，随后接受辅助化疗，包括白蛋白结合型紫杉醇和卡铂。在术后约28个月的最终电话随访中，未报告复发或远处转移，患者总体健康状况良好。
结论： 本病例描述了局限性PMME患者在显微镜下切缘阴性切除和个体化辅助化疗后良好的临床病程。然而，辅助化疗对结局的贡献仍不确定，需要进一步研究以确定最佳术后管理。

英文摘要

BACKGROUND: Primary malignant melanoma of the esophagus (PMME) is an extremely rare malignant tumor with a poor prognosis. PMME accounts for 0.1% to 0.2% of all malignant esophageal tumors. Owing to its rarity and heterogeneity, there is currently a lack of standardized diagnostic and therapeutic guidelines, making clinical management challenging. Herein, we report this case to describe its clinicopathological features, treatment strategy, and clinical course.
CASE DESCRIPTION: A 65-year-old Asian male patient presented with a two-month history of dysphagia. Upper gastrointestinal endoscopy revealed a large intraluminal mass in the middle to lower thoracic esophagus, and endoscopic biopsy suggested esophageal malignant melanoma. Postoperative histopathological and immunohistochemical examination confirmed malignant melanoma. Targeted physical evaluation of alternative potential primary sites and positron emission tomography/computed tomography (PET/CT) imaging revealed no additional primary lesions, supporting a primary esophageal origin. The patient underwent radical surgical resection followed by adjuvant chemotherapy, including nab-paclitaxel and carboplatin. At the final telephone follow-up approximately 28 months after surgery, no recurrence or distant metastasis was reported, and the patient maintained a good overall health status.
CONCLUSIONS: This case describes a favorable clinical course following microscopically margin-negative resection and individualized adjuvant chemotherapy in a patient with localized PMME. However, the contribution of adjuvant chemotherapy to the outcome remains uncertain, and further studies are needed to establish optimal postoperative management.