Gustave Roussy, Département de médecine oncologique, 94805, Villejuif, France.
Department of Oncology, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.
Clin Transl Oncol. 2021 Nov;23(11):2302-2308. doi: 10.1007/s12094-021-02629-2. Epub 2021 May 2.
This study aims to genomically characterize melanoma of unknown primary (MUP) in comparison to melanomas of cutaneous primary (MCP).
Eligible cases were collected from the MSK-IMPACT™ Clinical Sequencing Cohort published in the cBioPortal database. Genomic analysis was performed using a hybridization-capture-based next-generation sequencing assay designed to detect mutations, small insertions and deletions, copy number alterations, and genomic rearrangements.
Among 462 patients of whom 18.4% had MUP, brain metastasis was more common among patients with MUP (23% vs 7.1%). The differences in genomic profiling between MCP and MUP did not reach statistical significance. The 187 MCP and 44 MUP patients treated with immune checkpoint inhibitors had a median overall survival of 49 and 44 months, respectively (p = 0.705).
The differences in somatic mutation patterns and survival outcomes were not statistically significant. These findings may allude to similar carcinogenic processes but should be considered exploratory and interpreted with caution.
本研究旨在对不明原发灶黑色素瘤（MUP）与皮肤原发灶黑色素瘤（MCP）进行基因组特征分析。
从 cBioPortal 数据库中 MSK-IMPACT™临床测序队列发表的文章中筛选符合条件的病例。使用杂交捕获二代测序方法进行基因组分析，旨在检测突变、小插入和缺失、拷贝数改变和基因组重排。
在 462 例患者中，18.4%为 MUP，MUP 患者中脑转移更为常见（23%比 7.1%）。MCP 和 MUP 之间的基因组分析差异无统计学意义。187 例接受免疫检查点抑制剂治疗的 MCP 和 44 例 MUP 患者的中位总生存期分别为 49 个月和 44 个月（p=0.705）。
体细胞突变模式和生存结果的差异无统计学意义。这些发现可能暗示着相似的致癌过程，但应被视为探索性的，需要谨慎解释。
