Lin Jing, Lin Zhongqiao, Chen Yanping, Wang Xuefeng, Huang Yufang, Zhang Huishan, Zhu Li, Xu Zelong, Gao Xuan, Zhang Yingqian, Lan Bin, Chen Yu
Department of Medical Oncology, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou, China.
Cancer Bio-Immunotherapy Center, Clinical Oncology School of Fujian Medical University, Fujian Cancer Hospital, Fuzhou, China.
Ann Med. 2025 Dec;57(1):2493769. doi: 10.1080/07853890.2025.2493769. Epub 2025 May 3.
The differences in the clinical features, prognosis and genetic mutations in Chinese patients with malignant melanoma (MM) and additional primary tumours remain unclear.
A retrospective analysis was conducted on patients with malignancies in Fujian Cancer Hospital from January 2007 to September 2022, end follow-up in September 2023. Clinical data were gathered, survival analysis was performed, and genetic mutations were detected.
There were 58 of 1223 melanoma patients with melanoma and additional primary tumours, an incidence of 4.74%. Acral MM was the most common subtype (26/58), 23 (39.66%) patients had concomitant digestive tumours. Patients who had MM as their first primary tumour (MMFP) had shorter tumour occurrence intervals (9.93 vs. 57.78 months, = .008) but longer melanoma survival (MM-OS) than the non-MMFP group (100.43 vs. 18.93 months, = .015). Patients with cancer family histories were more likely to have pathogenic and likely pathogenic (P/LP) mutations (2/5 vs. 4/25). The somatic BRAF gene mutation was frequently observed in MM tissue (8/19, 42.11%). Three patients had whole-genome doubling and microsatellite instability-high (MSI-H). The COSMIC2 signature 3 was significantly higher in the P/LP group.
The frequency of MM and additional primary tumours is about 5% in Chinese populations. Patients with melanoma diagnosed first have longer melanoma survival. Digestive system tumours were the most concomitant; a digestive examination is advisable, especially for those with an expected overall survival (OS) greater than 10 months. Meanwhile, patient's family cancer history should be followed up in detail, along with completion of germline P/LP mutation and somatic mutation testing, all of which may provide valuable support for further treatment.
中国恶性黑色素瘤（MM）患者与其他原发性肿瘤在临床特征、预后及基因突变方面的差异尚不清楚。
对2007年1月至2022年9月在福建医科大学附属肿瘤医院就诊的恶性肿瘤患者进行回顾性分析，随访截至2023年9月。收集临床资料，进行生存分析并检测基因突变。
1223例黑色素瘤患者中有58例合并其他原发性肿瘤，发病率为4.74%。肢端MM是最常见的亚型（26/58），23例（39.66%）患者合并消化系统肿瘤。以MM作为首个原发性肿瘤（MMFP）的患者肿瘤发生间隔较短（9.93个月 vs. 57.78个月，P = 0.008），但黑色素瘤生存时间（MM-OS）长于非MMFP组（100.43个月 vs. 18.93个月，P = 0.015）。有癌症家族史的患者更易发生致病性和可能致病性（P/LP）突变（2/5 vs. 4/25）。MM组织中常观察到体细胞BRAF基因突变（8/19，42.11%）。3例患者存在全基因组加倍和微卫星高度不稳定（MSI-H）。COSMIC2特征3在P/LP组中显著更高。
中国人群中MM合并其他原发性肿瘤的发生率约为5%。首先诊断为黑色素瘤的患者黑色素瘤生存时间更长。消化系统肿瘤是最常见的合并肿瘤；建议进行消化系统检查，尤其是对于预期总生存期（OS）大于10个月的患者。同时，应详细随访患者的家族癌症病史，并完成胚系P/LP突变和体细胞突变检测，所有这些可为进一步治疗提供有价值的支持。
