← 返回前沿论文

胃食管交界处原发性恶性黑色素瘤伴 KIT 基因外显子 11 突变

英文原题:Primary malignant melanoma of the gastroesophageal junction with KIT gene exon 11 mutation.

PubMed 2024/07/01(内容时间) J Pak Med Assoc Q3 · IF 0.8(JCR 2025)

研究概要

尽管临床医生向患者及其家属强调了全身化疗和免疫治疗的必要性,但患者未接受任何辅助治疗,并于术后36个月死亡。

中文摘要

黏膜黑色素瘤(MM)是一种罕见的黑色素瘤类型。原发性胃肠道(GIT)黑色素瘤更为罕见。一名70岁男性因上腹部不适两个月就诊于中国辽宁省肿瘤医院和研究所。他的内镜检查显示胃食管交界处(GEJ)有一个显著的、6cm的溃疡性肿瘤。病变内镜活检显示弥漫分布的肿瘤细胞。他接受了胃次全切除术并淋巴结清扫(LND)。术后组织病理学显示肿瘤细胞弥漫分布,伴有大量TIL(肿瘤浸润淋巴细胞)(TILs)和色素颗粒。免疫组织化学(IHC)结果示S-100和HMB-45均为阳性。分子分析显示KIT基因外显子11突变。尽管临床医生向患者及其家属强调了全身化疗和免疫治疗的必要性,但患者未接受任何辅助治疗,并于术后36个月死亡。在胃肠道恶性肿瘤的鉴别诊断中,尤其是通过全身检查排除转移来源后,应考虑GEJ原发性恶性黑色素瘤。

展开英文摘要原文

Mucosal melanoma (MM) represents an uncommon form of melanoma. Primary gastrointestinal tract (GIT) melanoma is even rarer. A 70-year-old male visited the Liaoning Cancer Hospital and Institute, China, due to upper abdominal discomfort for the past two months. His endoscopy revealed a prominent, 6-cm ulcerated neoplasm in the gastroesophageal junction (GEJ). Lesion endoscopic biopsy showed diffusely distributed tumour cells. He underwent subtotal gastrectomy with lymph node dissection (LND). Postoperative histopathology revealed a diffuse distribution of tumour cells with numerous tumourinfiltrating lymphocytes (TILs) and pigment granules. Immunohistochemical (IHC) results were positive for both S-100 and HMB-45. Molecular analysis showed KIT gene exon 11 mutations. Although the clinicians emphasised the necessity of systemic chemotherapy and immunotherapy with the patient and his family, the patient did not receive any adjuvant therapy and died 36 months after surgery. Primary malignant melanoma of GEJ should be considered in a differential diagnosis for gastrointestinal malignancies, especially after excluding the source of metastasis through a systemic examination.

论文信息

作者
Gao X、Zhao Z、Zhu Y
单位
Department of Pathology, Cancer Hospital of Dalian University of Technology, Cancer Hospital of China Medical University, Liaoning Cancer Hospital and Institute, China.China
文献类型
病例报告
期刊
JPMA. The Journal of the Pakistan Medical Association2024 Jul
原文标识
PubMed 39028069 · DOI 10.47391/JPMA.9003