| Literature DB >> 28474160 |
C Mawrin1.
Abstract
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.Entities:
Keywords: Cowden syndrome; Li-Fraumeni syndrome; Neurofibromatosis type 1; Neurofibromatosis type 2; Schwannomatosis
Mesh:
Year: 2017 PMID: 28474160 DOI: 10.1007/s00292-017-0292-y
Source DB: PubMed Journal: Pathologe ISSN: 0172-8113 Impact factor: 1.011