Mawrin C
Institut für Neuropathologie, Otto-von-Guericke-Universität Magdeburg, Leipziger Straße 44, 39120, Magdeburg, Deutschland.
Pathologe. 2017 May;38(3):186-196. doi: 10.1007/s00292-017-0292-y.
Neoplasms in the central (CNS) and peripheral nervous system (PNS) in hereditary tumor syndromes play an important role in the neuropathological diagnostics. The benign and malignant PNS and CNS tumors that occur in the frequent neurofibromatosis type 1 (NF1) and type 2 (NF2) often represent essential factors for the course of the disease in those affected. Furthermore, certain clinical constellations (e.g. bilateral schwannomas of the auditory nerve, schwannomas at a young age and multiple meningiomas) can be important indications for a previously undiagnosed hereditary tumor disease. Other tumors occur practically regularly in association with certain germline defects, e.g. subependymal giant cell astrocytoma (SEGA) in tuberous sclerosis and dysplastic gangliocytoma of the cerebellum in Cowden's syndrome and can be indications in the diagnostics for an extended genetic counselling. This is not only important because many germline defects are based on new mutations, but also for the now established targeted therapy of certain tumors, e.g. inhibition of the mammalian target of rapamycin (mTOR) signaling pathway using temsirolimus for SEGA. Furthermore, knowledge about the possible constellations of genetic mosaics in hereditary tumor syndromes with the resulting (incomplete) syndrome manifestations is useful. This review article summarizes the most important hereditary tumor syndromes with involvement of the PNS and CNS.
遗传性肿瘤综合征中中枢神经系统(CNS)和周围神经系统(PNS)的肿瘤在神经病理学诊断中起着重要作用。常见的1型神经纤维瘤病(NF1)和2型神经纤维瘤病(NF2)中出现的良性和恶性PNS及CNS肿瘤往往是这些患者疾病进程的关键因素。此外,某些临床症状(如双侧听神经鞘瘤、年轻时出现的神经鞘瘤和多发脑膜瘤)可能是先前未诊断出的遗传性肿瘤疾病的重要指征。其他肿瘤实际上经常与某些种系缺陷相关,例如结节性硬化症中的室管膜下巨细胞星形细胞瘤(SEGA)和考登综合征中的小脑发育异常性神经节细胞瘤,可作为扩大遗传咨询诊断的指征。这不仅很重要,因为许多种系缺陷是基于新的突变,而且对于目前已确立靶向治疗的某些肿瘤,例如使用替西罗莫司抑制SEGA的哺乳动物雷帕霉素靶蛋白(mTOR)信号通路而言也很重要。此外,了解遗传性肿瘤综合征中基因镶嵌的可能情况以及由此产生的(不完全)综合征表现也很有用。这篇综述文章总结了涉及PNS和CNS的最重要的遗传性肿瘤综合征。