[肢端黑色素瘤中与转移相关的体细胞突变]
[Somatic Mutations Associated with Metastasis in Acral Melanoma].
作者信息
Abramov I S, Emelyanova M A, Ryabaya O O, Krasnov G S, Zasedatelev A S, Nasedkina T V
机构信息
Engelhardt Institute of Molecular Biology, Russian Academy of Sciences, Moscow, 119991 Russia.
Blokhin National Medical Research Center of Oncology, Ministry of Health of the Russian Federation, Moscow, 115478 Russia.
出版信息
Mol Biol (Mosk). 2019 Jul-Aug;53(4):648-653. doi: 10.1134/S0026898419040025.
Acral melanoma is one of the most aggressive and fast-growing forms of cutaneous melanoma and is characterized by a predominant location on the palms and feet. Primary tumors, metastases, and normal tissue samples from five acral melanoma patients were examined by massive parallel sequencing, focusing on the coding regions of 4100 genes involved in the origin and progression of hereditary and oncology diseases. Somatic mutations were found in genes related to cell division, proliferation, and apoptosis (BRAF, NRAS, VAV1, GATA1, and GCM2); cell adhesion (CTNND2 and ITGB4); angiogenesis (VEGFA); and the regulation of energy metabolism (BCS1L). Comparisons of target DNA sequences between morphologically normal and primary tumor tissues and between normal and metastatic tissues identified the candidate genes responsible for rapid metastasis in acral melanoma.
肢端黑色素瘤是皮肤黑色素瘤中侵袭性最强、生长最快的类型之一，其特征是主要发生在手掌和足部。对5例肢端黑色素瘤患者的原发性肿瘤、转移灶及正常组织样本进行了大规模平行测序，重点关注4100个与遗传性和肿瘤性疾病的发生及进展相关基因的编码区。在与细胞分裂、增殖和凋亡相关的基因（BRAF、NRAS、VAV1、GATA1和GCM2）；细胞黏附相关基因（CTNND2和ITGB4）；血管生成相关基因（VEGFA）；以及能量代谢调节相关基因（BCS1L）中发现了体细胞突变。通过比较形态学正常组织与原发性肿瘤组织之间以及正常组织与转移组织之间的目标DNA序列，确定了导致肢端黑色素瘤快速转移的候选基因。
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