Genetic insights into familial tumors of the nervous system

Abstract

Nervous system tumors represent unique neoplasms that arise within the central and peripheral nervous system. While the vast majority of nervous system neoplasm occur sporadically, most of the adult and pediatric forms have a hereditary equivalent. In a little over a decade, we have seen a tremendous increase in knowledge of the primary genetic basis of many of the familial cancer syndromes that involve the nervous system, syndromes that are mostly inherited as autosomal dominant traits. In this review, we discuss the most recent findings on the genetic basis of hereditary nervous system tumors. The identification of genes associated with familial cancer syndromes has in some families enabled a "molecular diagnosis" that complements clinical assessment and allows directed cancer surveillance for those individuals determined to be at-risk for disease.

Molecular Epidemiology of Primary Brain Tumors

“…Rare genetic disorders such as Li-Fraumeni syndrome, neurofibromatosis (NF) type 1 and type 2, tuberous sclerosis, Turcot's syndrome, and familial polyposis support inherited predisposition to PBTs. [12][13][14] Comparative genomic hybridization (CGH) analysis of familial PBTs aimed to reveal disease-specific chromosomal changes and thus identified a spectrum of chromosomal losses and gains. 15,16 The epidemiologic evidence is suggestive for association between PBT and family history of cancer.…”

Association of MutantTP53with Alternative Lengthening of Telomeres and Favorable Prognosis in Glioma

“…Interestingly, a significant fraction of glioblastoma multiformes has no known mechanism for telomere maintenance. Germline mutations in the TP53 tumor suppressor gene are associated with increased risk of gliomas (3), and somatic mutations are found in a significant proportion of sporadic gliomas (4). The effect of these mutations on survival is equivocal (5)(6)(7)(8)(9), and the relationship of TP53 status with TMM has not been studied previously.…”

Haematological outcome of concomitant chemoradiation with Temozolomide (CCRT) versus radiation therapy (RT) alone in patients with high grade gliomas

“…5 Male to female ratio among affected patient is about 3:2 and most of the HGG are sporadic, although they are associated with genetic syndromes. 6,7 e peak age of onset for anaplastic astrocytoma is during the 4th and 5 th decade, while GBM generally presented in the 6 th and 7 th decade. 8 ere are several presumed reasons for miserable outcome of high grade gliomas.…”