Apps John Richard, Martinez-Barbera Juan Pedro
Developmental Biology and Cancer Programme, Birth Defects Research Centre, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Neurosurg Focus. 2016 Dec;41(6):E4. doi: 10.3171/2016.8.FOCUS16307.
Since the first identification of CTNNB1 mutations in adamantinomatous craniopharyngioma (ACP), much has been learned about the molecular pathways and processes that are disrupted in ACP pathogenesis. To date this understanding has not translated into tangible patient benefit. The recent development of novel techniques and a range of preclinical models now provides an opportunity to begin to support treatment decisions and develop new therapeutics based on molecular pathology. In this review the authors summarize many of the key findings and pathways implicated in ACP pathogenesis and discuss the challenges that need to be tackled to translate these basic science findings for the benefit of patients.
自从在成釉细胞瘤型颅咽管瘤(ACP)中首次鉴定出CTNNB1突变以来,人们对ACP发病机制中被破坏的分子途径和过程已有了很多了解。迄今为止,这种认识尚未转化为切实的患者受益。新技术和一系列临床前模型的最新发展现在提供了一个机会,开始支持治疗决策并基于分子病理学开发新的治疗方法。在这篇综述中,作者总结了许多与ACP发病机制相关的关键发现和途径,并讨论了为使患者受益而将这些基础科学发现转化应用所需要应对的挑战。