KIT mutations in Russian patients with mucosal melanoma

被引：19
作者：
Abysheva, Svetlana N. [1 ]
Iyevleva, Aglaya G. [1 ,2 ]
Efimova, Nina V. [1 ]
Mokhina, Yulia B. [1 ]
Sabirova, Feruza A. [1 ]
Ivantsov, Alexandr O. [1 ]
Artemieva, Anna S. [1 ]
Togo, Alexandr V. [1 ]
Moiseyenko, Vladimir M. [3 ]
Matsko, Dmitry E. [1 ]
Imyanitov, Evgeny N. [1 ,2 ,3 ]
机构：
[1] NN Petrov Oncol Res Inst, Mol Oncol Lab, St Petersburg 197758, Russia
[2] St Petersburg Pediat Med Acad, Dept Clin Genet, St Petersburg, Russia
[3] St Petersburg Med Acad Postgrad Studies, Dept Oncol, St Petersburg, Russia
来源：
MELANOMA RESEARCH | 2011年 / 21卷 / 06期
关键词：
KIT; mucosal melanoma; mutation; review; GASTROINTESTINAL STROMAL TUMORS; METASTATIC MELANOMA; PROTEIN EXPRESSION; COPY NUMBER; GENE; ACTIVATION; IMATINIB; SUBTYPES;
D O I：
10.1097/CMR.0b013e32834bf398
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
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. Melanoma Res 21:555-559 (C) 2011 Wolters Kluwer Health | Lippincott Williams & Wilkins.
引用
收藏
页码：555 / 559
页数：5
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