Genetic insights into familial tumors of the nervous system.
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.
Melean
German
G
Medical Genetics Unit, Department of Clinical Physiology, University of Florence, Viale Pieraccini 6, 50139 Florence, Italy.
Sestini
Roberta
R
Ammannati
Franco
F
Papi
Laura
L
D001478:Basal Cell Nevus Syndrome / Q000235:genetics; D001932:Brain Neoplasms / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005910:Glioma / Q000235:genetics; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D009423:Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics*; D009442:Neurilemmoma / Q000235:genetics; D017253:Neurofibromatoses / Q000235:genetics; D018335:Rhabdoid Tumor / Q000235:genetics; D014402:Tuberous Sclerosis / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000235:genetics