Division of Hematology-Oncology, Department of Internal Medicine, Chang Gung Memorial Hospital at Linkou, Chang Gung University College of Medicine, Taoyuan, Taiwan, R.O.C.;
Immuno-Oncology Center of Excellence, Chang Gung Memorial Hospital at Linkou, Taoyuan, Taiwan, R.O.C.
Cancer Genomics Proteomics. 2021 Jan-Feb;18(1):83-92. doi: 10.21873/cgp.20243. Epub 2021 Jan 8.
BACKGROUND/AIM: Acral melanomas (AM) represent a rare subgroup of melanomas with poor clinical outcomes and are enriched in Asian populations. Recent advances in next generation sequencing have provided opportunities to apply precision medicine to AM.
Here, we present a series of 13 patients with melanomas from Taiwan and Singapore, including 8 patients with AM profiled using whole exome sequencing and summarize the recent studies on the genomic landscape of AM.
We identified mutually exclusive mutations in BRAF, NRAS, HRAS, NF1 and KIT in 6 AM cases. In addition, recurrent copy number gains in CCND1 and CDK4, as well as recurrent deletions in CDKN2A/CDKN2B, ATM and RAD51 were observed, supporting the potential use of CDK4/6 or PARP inhibitors in the treatment of these patients.
The genomic landscape of AM provides an important resource for applying novel targeted therapies in this rare disease.
背景/目的：肢端黑色素瘤（AM）是一种罕见的黑色素瘤亚群，临床预后较差，在亚洲人群中更为常见。下一代测序的最新进展为 AM 的精准医疗应用提供了机会。
本研究报告了来自中国台湾和新加坡的 13 例黑色素瘤患者，其中 8 例 AM 患者进行了全外显子组测序，并总结了 AM 基因组特征的最新研究。
我们在 6 例 AM 中发现了 BRAF、NRAS、HRAS、NF1 和 KIT 互斥性突变。此外，还观察到 CCND1 和 CDK4 的反复拷贝数增加，以及 CDKN2A/CDKN2B、ATM 和 RAD51 的反复缺失，这支持了在这些患者中使用 CDK4/6 或 PARP 抑制剂治疗的潜力。
AM 的基因组特征为该罕见疾病应用新型靶向治疗提供了重要资源。
