Melanoma: from mutations to medicine

小眼畸形相关转录因子 生物 黑色素瘤 疾病 生物信息学 小眼症 精密医学 癌症研究 转录因子 遗传学 医学 病理 基因
作者
Hensin Tsao,Lynda Chin,Levi A. Garraway,David E. Fisher
出处
期刊:Genes & Development [Cold Spring Harbor Laboratory Press]
卷期号:26 (11): 1131-1155 被引量:459
标识
DOI:10.1101/gad.191999.112
摘要

Melanoma is often considered one of the most aggressive and treatment-resistant human cancers. It is a disease that, due to the presence of melanin pigment, was accurately diagnosed earlier than most other malignancies and that has been subjected to countless therapeutic strategies. Aside from early surgical resection, no therapeutic modality has been found to afford a high likelihood of curative outcome. However, discoveries reported in recent years have revealed a near avalanche of breakthroughs in the melanoma field-breakthroughs that span fundamental understanding of the molecular basis of the disease all the way to new therapeutic strategies that produce unquestionable clinical benefit. These discoveries have been born from the successful fruits of numerous researchers working in many-sometimes-related, although also distinct-biomedical disciplines. Discoveries of frequent mutations involving BRAF(V600E), developmental and oncogenic roles for the microphthalmia-associated transcription factor (MITF) pathway, clinical efficacy of BRAF-targeted small molecules, and emerging mechanisms underlying resistance to targeted therapeutics represent just a sample of the findings that have created a striking inflection in the quest for clinically meaningful progress in the melanoma field.
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