Departments of Neurology, Pediatrics, and Neurosurgery, University of California, San Francisco, California 94158-9001.
Cold Spring Harb Perspect Med. 2013 Oct 1;3(10):a014415. doi: 10.1101/cshperspect.a014415.
Neuroblastoma, the most common extracranial solid tumor of childhood, is thought to originate from undifferentiated neural crest cells. Amplification of the MYC family member, MYCN, is found in ∼25% of cases and correlates with high-risk disease and poor prognosis. Currently, amplification of MYCN remains the best-characterized genetic marker of risk in neuroblastoma. This article reviews roles for MYCN in neuroblastoma and highlights recent identification of other driver mutations. Strategies to target MYCN at the level of protein stability and transcription are also reviewed.
神经母细胞瘤是儿童最常见的颅外实体瘤,被认为起源于未分化的神经嵴细胞。在约 25%的病例中发现 MYC 家族成员 MYCN 扩增,与高危疾病和预后不良相关。目前,MYCN 扩增仍然是神经母细胞瘤风险的最佳特征性遗传标志物。本文综述了 MYCN 在神经母细胞瘤中的作用,并强调了最近对其他驱动突变的鉴定。还综述了靶向 MYCN 蛋白稳定性和转录水平的策略。