Reuss David, von Deimling Andreas
Department of Neuropathology, Institute of Pathology, Im Neuenheimer Feld 220/221, Heidelberg 69120, Germany.
Recent Results Cancer Res. 2009;171:83-102. doi: 10.1007/978-3-540-31206-2_5.
Several congenital syndromes caused by germline mutations in tumor suppressor genes predispose to the development of glial tumors. In the last few decades our knowledge about the molecular functions of these genes and the pathogenesis of hereditary tumor syndromes has greatly increased. The most common syndromes are the neurofibromatoses (type 1 and type 2) and the tuberous scleroses complex. There are interesting overlaps in the molecular pathogen-esis. Deregulation of Ras or downstream Ras pathways including MEK/ERK and AKT/ mTOR plays an important role in these three syndromes. Other rare syndromes include Li-Fraumeni, melanoma-astrocytoma, and Turcot syndrome involving cell cycle regulators and DNA repair genes. The genes and pathways involved in the pathogenesis of these syndromes also play an important role in the development of sporadic tumors. Therefore research on hereditary syndromes contributes substantially to our understanding of tumor formation.
由肿瘤抑制基因种系突变引起的几种先天性综合征易患神经胶质瘤。在过去几十年中,我们对这些基因的分子功能以及遗传性肿瘤综合征的发病机制的了解有了极大的增加。最常见的综合征是神经纤维瘤病(1型和2型)和结节性硬化症。在分子发病机制方面存在有趣的重叠。Ras或包括MEK/ERK和AKT/mTOR在内的下游Ras途径的失调在这三种综合征中起重要作用。其他罕见综合征包括李-佛美尼综合征、黑色素瘤-星形细胞瘤综合征以及涉及细胞周期调节因子和DNA修复基因的Turcot综合征。这些综合征发病机制中涉及的基因和途径在散发性肿瘤的发生中也起重要作用。因此,对遗传性综合征的研究对我们理解肿瘤形成有很大贡献。