Guadarrama-Orozco J A, Ortega-Gómez A, Ruiz-García E B, Astudillo-de la Vega H, Meneses-García A, Lopez-Camarillo C
Translational Medicine Laboratory, National Cancer Institute, San Fernando N.22, CP 14080, Mexico City, Mexico.
Laboratory of Translational Cancer Research and Cellular Therapy, Oncology Hospital, Medical Center Siglo XXI, Mexico City, Mexico.
Clin Transl Oncol. 2016 Sep;18(9):863-71. doi: 10.1007/s12094-015-1469-6. Epub 2016 Jan 29.
Melanoma was one of the translational cancer examples in clinic, including target therapy related to specific biomarkers impacting in the outcome of melanoma patients. Melanomagenesis involved a wide variety of mutations during his evolution; many of these mutated proteins have a kinase activity. One of the most cited proteins in melanoma is BRAF (about 50-60 % of melanomas harbors activating BRAF mutations), for these the most common is a substitution of valine to glutamic acid at codon 600 (p.V600E). Therefore, the precise identification of this underlying somatic mutation is essential; knowing the translational implications has opened a wide view of melanoma biology and therapy.
黑色素瘤是临床中转化性癌症的实例之一，包括与影响黑色素瘤患者预后的特定生物标志物相关的靶向治疗。黑色素瘤的发生在其发展过程中涉及多种突变；其中许多突变蛋白具有激酶活性。黑色素瘤中最常被提及的蛋白之一是BRAF（约50%-60%的黑色素瘤存在BRAF激活突变），其中最常见的是第600位密码子处缬氨酸被谷氨酸取代（p.V600E）。因此，精确识别这种潜在的体细胞突变至关重要；了解其转化意义为黑色素瘤生物学和治疗开辟了广阔的视野。
