Department of Health Sciences and Technology, Gachon Advanced Institute for Health Sciences and Technology, Gachon University, Incheon, 21999, South Korea.
Department of Dermatology, Gachon University Gil Medical Center, Gachon University College of Medicine, Incheon, 21565, South Korea.
Comput Biol Med. 2023 Mar;154:106602. doi: 10.1016/j.compbiomed.2023.106602. Epub 2023 Jan 24.
Acral melanoma (AM), a rare subtype of cutaneous melanoma, shows higher incidence in Asians, including Koreans, than in Caucasians. However, the genetic modification associated with AM in Koreans is not well known and has not been comprehensively investigated in terms of oncogenic signaling, and hallmarks of cancer. We performed whole-exome and RNA sequencing for Korean patients with AM and acquired the genetic alterations and gene expression profiles. KIT alterations (previously known to be recurrent alterations in AM) and CDK4/CCND1 copy number amplifications were identified in the patients. Genetic and transcriptomic alterations in patients with AM were functionally converge to the hallmarks of cancer and oncogenic pathways, including 'proliferative signal persistence', 'apoptotic resistance', and 'activation of invasion and metastasis', despite the heterogeneous somatic mutation profiles of Korean patients with AM. This study may provide a molecular understanding for therapeutic strategy for AM.
肢端黑色素瘤（AM）是一种罕见的皮肤黑色素瘤亚型，在亚洲人（包括韩国人）中的发病率高于白种人。然而，与韩国人 AM 相关的基因改变尚不清楚，并且在致癌信号和癌症特征方面尚未进行全面研究。我们对韩国 AM 患者进行了全外显子组和 RNA 测序，并获得了基因改变和基因表达谱。在这些患者中鉴定出 KIT 改变（以前被认为是 AM 中反复出现的改变）和 CDK4/CCND1 拷贝数扩增。尽管韩国 AM 患者的体细胞突变谱具有异质性，但 AM 患者的遗传和转录组改变在功能上趋于一致，包括“增殖信号持续存在”、“凋亡抵抗”和“侵袭和转移的激活”，这些改变符合癌症特征和致癌途径。这项研究可能为 AM 的治疗策略提供分子理解。
