Murnyák Balázs, Szepesi Rita, Hortobágyi Tibor
Debreceni Egyetem, Általános Orvostudományi Kar Patológiai Intézet, Neuropatológiai Tanszék Debrecen Nagyerdei krt. 98. 4032.
Debreceni Egyetem, Általános Orvostudományi Kar Orvosi Rehabilitáció és Fizikális Medicina Tanszék Debrecen Debreceni Egyetem, Általános Orvostudományi Kar Neurológiai Tanszék Debrecen.
Orv Hetil. 2015 Feb 1;156(5):171-7. doi: 10.1556/OH.2015.30092.
Although most of the central nervous system tumours are sporadic, rarely they are associated with familial tumour syndromes. These disorders usually present with an autosomal dominant inheritance and neoplasia develops at younger age than in sporadic cases. Most of these tumours are bilateral, multiplex or multifocal. The causative mutations occur in genes involved in cell cycle regulation, cell growth, differentiation and DNA repair. Studying these hereditary cancer predisposition syndromes associated with nervous system tumours can facilitate the deeper understanding of the molecular background of sporadic tumours and the development of novel therapeutic agents. This review is an update on hereditary tumour syndromes with nervous system involvement with emphasis on molecular genetic characteristics and their clinical implications.
虽然大多数中枢神经系统肿瘤是散发性的，但它们很少与家族性肿瘤综合征相关。这些疾病通常呈常染色体显性遗传，肿瘤形成的年龄比散发性病例更小。这些肿瘤大多是双侧性、多发性或多灶性的。致病突变发生在参与细胞周期调控、细胞生长、分化和DNA修复的基因中。研究这些与神经系统肿瘤相关的遗传性癌症易感性综合征有助于更深入地了解散发性肿瘤的分子背景以及新型治疗药物的开发。本综述是关于累及神经系统的遗传性肿瘤综合征的最新进展，重点介绍分子遗传学特征及其临床意义。
