Department of Dermatology, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Division of Clinical Immunology and Rheumatology, Department of Medicine, University of Alabama at Birmingham, Birmingham, AL 35294, USA.
Int J Mol Sci. 2020 May 16;21(10):3535. doi: 10.3390/ijms21103535.
Melanoma is a deadly skin cancer that becomes especially difficult to treat after it metastasizes. Timely identification of melanoma is critical for effective therapy, but histopathologic diagnosis can frequently pose a significant challenge to this goal. Therefore, auxiliary diagnostic tools are imperative to facilitating prompt recognition of malignant lesions. Melanoma develops as result of a number of genetic mutations, with UV radiation often acting as a mutagenic risk factor. Novel methods of genetic testing have improved detection of these molecular alterations, which subsequently revealed important information for diagnosis and prognosis. Rapid detection of genetic alterations is also significant for choosing appropriate treatment and developing targeted therapies for melanoma. This review will delve into the understanding of various mutations and the implications they may pose for clinical decision making.
黑色素瘤是一种致命的皮肤癌,在转移后尤其难以治疗。及时发现黑色素瘤对于有效的治疗至关重要,但组织病理学诊断常常对这一目标构成重大挑战。因此,辅助诊断工具对于促进恶性病变的快速识别是必不可少的。黑色素瘤是由于多种基因突变引起的,紫外线辐射通常是一种诱变危险因素。新型基因检测方法提高了对这些分子改变的检测,进而为诊断和预后提供了重要信息。快速检测遗传改变对于选择适当的治疗方法和为黑色素瘤开发靶向治疗也非常重要。本综述将深入探讨对各种突变的理解及其对临床决策可能产生的影响。