Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, St Petersburg Pediatric Medical Academy, St Petersburg, Russia.
Melanoma Res. 2011 Dec;21(6):555-9. doi: 10.1097/CMR.0b013e32834bf398.
A single institution series of 48 mucosal melanomas (MMs) has been analyzed for the presence of KIT mutations using high-resolution melting and sequencing of abnormally melted DNA fragments. The analysis of exons 9, 11, 13, and 17 has revealed eight of 48 (17%) nonsynonymous alterations, including zero of seven head and neck, six of 24 anorectal, one of 15 genitourinary, one of one gastric, and zero of one mediastinal MMs. Seven of these mutations were potentially associated with the tumor sensitivity to KIT tyrosine kinase inhibitors. One tumor harbored somatically acquired silent nucleotide substitution c.1383A>G (T461T). This study adds to the evidence that a substantial portion of MMs carry a therapeutically relevant mutation in the KIT oncogene.
一项对 48 例黏膜黑色素瘤（MMs）的单机构系列研究，通过高分辨率熔解和异常熔解 DNA 片段的测序，分析了 KIT 突变的存在。对第 9、11、13 和 17 外显子的分析显示，48 例中有 8 例（17%）非同义改变，其中 7 例头颈部无，6 例肛门直肠，15 例泌尿生殖道，1 例胃，1 例纵隔 MMs 无。这 7 种突变可能与 KIT 酪氨酸激酶抑制剂的肿瘤敏感性有关。一个肿瘤携带了体细胞获得的沉默核苷酸取代 c.1383A>G（T461T）。这项研究进一步证明，相当一部分 MMs 携带 KIT 癌基因中具有治疗意义的突变。
