Molecular Oncology Group, Cancer Research UK Manchester Institute, The University of Manchester, Alderley Park, SK10 4TG, UK.
Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma (D.R.U.M.), Equipe labellisée par la Ligue Nationale contre le Cancer, 75248, Paris, France.
Nat Commun. 2021 Jan 11;12(1):259. doi: 10.1038/s41467-020-20432-5.
Although identified as the key environmental driver of common cutaneous melanoma, the role of ultraviolet radiation (UVR)-induced DNA damage in mucosal melanoma is poorly defined. We analyze 10 mucosal melanomas of conjunctival origin by whole genome sequencing and our data shows a predominance of UVR-associated single base substitution signature 7 (SBS7) in the majority of the samples. Our data shows mucosal melanomas with SBS7 dominance have similar genomic patterns to cutaneous melanomas and therefore this subset should not be excluded from treatments currently used for common cutaneous melanoma.
虽然已经确定紫外线(UVR)诱导的 DNA 损伤是常见皮肤黑色素瘤的关键环境驱动因素,但在黏膜黑色素瘤中其作用仍未得到明确界定。我们通过全基因组测序分析了 10 例结膜来源的黏膜黑色素瘤,数据显示大多数样本中存在 UVR 相关的单碱基替换特征 7(SBS7)占主导地位。我们的数据表明,具有 SBS7 优势的黏膜黑色素瘤与皮肤黑色素瘤具有相似的基因组模式,因此这部分患者不应排除在目前用于常见皮肤黑色素瘤的治疗方法之外。