GNAQ mutation in a patient with metastatic mucosal melanoma.
GNAQ mutation in a patient with metastatic mucosal melanoma.
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DOI：
10.1186/1471-2407-14-516
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发表时间：
2014-07-16
期刊：
影响因子：
3.8
通讯作者：
Patel S
中科院分区：
文献类型：
--
作者：
Kim CY;Kim DW;Kim K;Curry J;Torres-Cabala C;Patel S
粘膜黑色素瘤约占所有黑色素瘤病例的 1%，通常预后比皮肤黑色素瘤更差。由于粘膜黑色素瘤的罕见性，仅可用于转移性粘膜黑色素瘤的有限临床研究。粘膜黑色素瘤最常含有 CKIT 基因突变，并且已经使用针对该基因的靶向疗法研究了治疗方法。粘膜黑色素瘤中的突变比皮肤或葡萄膜黑色素瘤中的突变少见，并且按频率降序发生：CKIT (20%)、NRAS (5%) 或 BRAF (3%)。 G-α 蛋白突变与丝裂原激活蛋白激酶途径的激活相关，但在粘膜黑色素瘤中尚未有报道。这些 G-α 蛋白突变发生在基因 GNAQ 和 GNA11 中，并且在葡萄膜黑色素瘤（始于眼睛的黑色素瘤）中出现频率较高。一名 59 岁的白人男性在评估被认为是痔疮后被诊断出患有粘膜黑色素瘤。肿瘤的分子分析显示存在 GNAQ 突变。眼科检查未发现葡萄膜黑色素瘤。据我们所知，我们在这里报告了首例已知的转移性粘膜黑色素瘤患者 GNAQ 突变病例。
Mucosal melanomas represent about 1% of all melanoma cases and classically have a worse prognosis than cutaneous melanomas. Due to the rarity of mucosal melanomas, only limited clinical studies with metastatic mucosal melanoma are available. Mucosal melanomas most commonly contain mutations in the gene CKIT, and treatments have been investigated using targeted therapy for this gene. Mutations in mucosal melanoma are less common than in cutaneous or uveal melanomas and occur in descending order of frequency as: CKIT (20%), NRAS (5%) or BRAF (3%). Mutations in G-alpha proteins, which are associated with activation of the mitogen-activated protein kinase pathway, have not been reported in mucosal melanomas. These G-alpha protein mutations occur in the genes GNAQ and GNA11 and are seen at a high frequency in uveal melanomas, those melanomas that begin in the eye. A 59-year old Caucasian male was diagnosed with a mucosal melanoma after evaluation for what was thought to be a hemorrhoid. Molecular analysis of the tumor revealed a GNAQ mutation. Ophthalmologic exam did not disclose a uveal melanoma. Here we report, to our knowledge, the first known case of GNAQ mutation in a patient with metastatic mucosal melanoma.
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影响因子：
3.7
作者：
Lamba S;Felicioni L;Buttitta F;Bleeker FE;Malatesta S;Corbo V;Scarpa A;Rodolfo M;Knowles M;Frattini M;Marchetti A;Bardelli A
通讯作者：
Bardelli A
影响因子：
5.7
作者：
Dutton-Regester, Ken;Irwin, Darryl;Hayward, Nicholas K.
通讯作者：
Hayward, Nicholas K.
影响因子：
6.2
作者：
Kluger, Harriet M.;Dudek, Arkadiuz Z.;McCann, Carrie;Ritacco, Jean;Southard, Nadine;Jilaveanu, Lucia B.;Molinaro, Annette;Sznol, Mario
通讯作者：
Sznol, Mario
DOI：
10.1158/1078-0432.ccr-11-3086
发表时间：
2012-07-01
期刊：
Clinical cancer research : an official journal of the American Association for Cancer Research
影响因子：
--
作者：
Ambrosini G;Pratilas CA;Qin LX;Tadi M;Surriga O;Carvajal RD;Schwartz GK
通讯作者：
Schwartz GK
甲磺酸伊马替尼治疗携带 c-Kit 突变或扩增的转移性黑色素瘤患者的 II 期、开放标签、单臂试验
影响因子：
45.3
作者：
Guo, Jun;Si, Lu;Qin, Shukui
通讯作者：
Qin, Shukui