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

页码：555 / 559

页数：5

共 23 条

[1] L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition [J].

Antonescu, Cristina R. ;

Busam, Klaus J. ;

Francone, Todd D. ;

Wong, Grace C. ;

Guo, Tianhua ;

Agaram, Narasimhan P. ;

Besmer, Peter ;

Jungbluth, Achim ;

Gimbel, Mark ;

Chen, Chin-Tung ;

Veach, Darren ;

Clarkson, Bayard D. ;

Paty, Philip B. ;

Weiser, Martin R. .

INTERNATIONAL JOURNAL OF CANCER, 2007, 121 (02) :257-264

[2] Pathological activation of KIT in metastatic tumors of acral and mucosal melanomas [J].

Ashida, Atsuko ;

Takata, Minoru ;

Murata, Hiroshi ;

Kido, Kenji ;

Saida, Toshiaki .

INTERNATIONAL JOURNAL OF CANCER, 2009, 124 (04) :862-868

[3] KIT Gene Mutations and Copy Number in Melanoma Subtypes [J].

Beadling, Carol ;

Jacobson-Dunlop, Erick ;

Hodi, F. Stephen ;

Le, Claudia ;

Warrick, Andrea ;

Patterson, Janice ;

Town, Ajia ;

Harlow, Amy ;

Cruz, Frank, III ;

Azar, Sharl ;

Rubin, Brian P. ;

Muller, Susan ;

West, Rob ;

Heinrich, Michael C. ;

Corless, Christopher L. .

CLINICAL CANCER RESEARCH, 2008, 14 (21) :6821-6828

[4] KIT as a Therapeutic Target in Metastatic Melanoma [J].

Carvajal, Richard D. ;

Antonescu, Cristina R. ;

Wolchok, Jedd D. ;

Chapman, Paul B. ;

Roman, Ruth-Ann ;

Teitcher, Jerrold ;

Panageas, Katherine S. ;

Busam, Klaus J. ;

Chmielowski, Bartosz ;

Lutzky, Jose ;

Pavlick, Anna C. ;

Fusco, Anne ;

Cane, Lauren ;

Takebe, Naoko ;

Vemula, Swapna ;

Bouvier, Nancy ;

Bastian, Boris C. ;

Schwartz, Gary K. .

JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2011, 305 (22) :2327-2334

[5] Distinct sets of genetic alterations in melanoma [J].

Curtin, JA ;

Fridlyand, J ;

Kageshita, T ;

Patel, HN ;

Busam, KJ ;

Kutzner, H ;

Cho, KH ;

Aiba, S ;

Bröcker, EB ;

LeBoit, PE ;

Pinkel, D ;

Bastian, BC .

NEW ENGLAND JOURNAL OF MEDICINE, 2005, 353 (20) :2135-2147

[6] Somatic activation of KIT in distinct subtypes of melanoma [J].

Curtin, John A. ;

Busam, Klaus ;

Pinkel, Daniel ;

Bastian, Boris C. .

JOURNAL OF CLINICAL ONCOLOGY, 2006, 24 (26) :4340-4346

[7] Targeted therapies of gastrointestinal stromal tumors (GIST)-The next frontiers [J].

Duensing, Stefan ;

Duensing, Anette .

BIOCHEMICAL PHARMACOLOGY, 2010, 80 (05) :575-583

[8] Phase II, Open-Label, Single-Arm Trial of Imatinib Mesylate in Patients With Metastatic Melanoma Harboring c-Kit Mutation or Amplification [J].

Guo, Jun ;

Si, Lu ;

Kong, Yan ;

Flaherty, Keith T. ;

Xu, Xiaowei ;

Zhu, Yanyan ;

Corless, Christopher L. ;

Li, Li ;

Li, Haifu ;

Sheng, Xinan ;

Cui, Chuanliang ;

Chi, Zhihong ;

Li, Siming ;

Han, Mei ;

Mao, Lili ;

Lin, Xuede ;

Du, Nan ;

Zhang, Xiaoshi ;

Li, Junling ;

Wang, Baocheng ;

Qin, Shukui .

JOURNAL OF CLINICAL ONCOLOGY, 2011, 29 (21) :2904-2909

[9] Clinical responses observed with imatinib or sorafenib in melanoma patients expressing mutations in KIT [J].

Handolias, D. ;

Hamilton, A. L. ;

Salemi, R. ;

Tan, A. ;

Moodie, K. ;

Kerr, L. ;

Dobrovic, A. ;

McArthur, G. A. .

BRITISH JOURNAL OF CANCER, 2010, 102 (08) :1219-1223

[10] Anorectal melanoma with a KIT-activating mutation, which is a target for tyrosine kinase inhibitor [J].

Itoh, Miki ;

Goto, Akira ;

Wakasugi, Hideki ;

Yoshida, Yutaka ;

Matsunaga, Yasutaka ;

Fujii, Kenichi ;

Suzuki, Kazuya ;

Yonezawa, Kazuhiko ;

Abe, Takashi ;

Arimura, Yoshiaki ;

Shinomura, Yasuhisa .

INTERNATIONAL JOURNAL OF CLINICAL ONCOLOGY, 2011, 16 (04) :428-434

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