Sections View Full Chapter Figures Tables Videos Annotate Full Chapter Figures Tables Videos Supplementary Content +++ Key Points ++ Disease summary: Primary central nervous system (CNS) tumors are a heterogeneous group of neoplasms arising from different cells of the CNS. CNS tumors may be associated with common genetic variation (sporadic tumors) and rare monogenic disorders (familial tumor syndromes). Primary CNS tumors include both benign and malignant neoplasms, and in adults primarily consist of tumors of the neuroepithelial tissue and tumors of the meninges. Tumors of neuroepithelial tissue account for approximately 34% of all primary brain and CNS tumors, and include in decreasing order of incidence: glioblastomas, lower-grade astrocytomas, oligodendrogliomas, ependymomas, and medulloblastomas. Neuroepithelial tumors are frequently malignant. Tumors of the meninges account for approximately 36% of all primary brain and CNS tumors, and includes in decreasing order of incidence: meningiomas and hemangioblastomas. Tumors of the meninges are frequently benign. ++ Differential diagnosis: Symptoms of a primary CNS tumor can overlap with those of other neoplastic and non-neoplastic conditions, including metastatic brain tumors, peripheral nervous system tumors (eg, vestibular Schwannoma, chordoma), abscess or viral infection of the brain, cerebral infarct, cerebral hemorrhage, or encephalomyelitis (eg, multiple sclerosis, acute disseminated encephalomyelitis). ++ Monogenic forms: Numerous hereditary syndromes confer an increased risk for development of CNS tumors, including neurofibromatosis type 1, neurofibromatosis type 2, von Hippel-Lindau disease, tuberous sclerosis, Lynch syndrome, familial adenomatous polyposis, Li-Fraumeni syndrome, Cowden syndrome, melanoma-neural system tumor syndrome, and Gorlin syndrome (Table 41-1). ++ Family history: A family history of glioma confers approximately a twofold increased risk for development of glioma. Similarly, a family history of meningioma confers 3.5-fold increased risk for development of meningioma. ++ Twin studies: Twin or heritability studies have not been conducted for sporadic CNS tumors. ++ Environmental factors: Ionizing radiation increases CNS tumor risk. Personal history of allergies decreases meningioma and glioma risk. Men have a 20%-60% increased risk for glioblastoma compared to women, while women have a more than two-fold increased risk for meningioma compared to men. ++ Genome-wide associations: Genome-wide association studies (GWAS) have identified a single meningioma risk locus and eight independently significant glioma risk loci (Table 41-2). ++ Pharmacogenomics: In tumor genomes, IDH1 or IDH2 mutation, 1p or 19q codeletion, and MGMT promoter hypermethylation are all correlated with improved prognosis and an increased response to chemotherapy in patients with glioma. ++Table Graphic Jump LocationTable 41-1Mendelian Disorders With Increased CNS Tumor SusceptibilityView Table||Download (.pdf) Table 41-1 Mendelian Disorders With Increased CNS Tumor Susceptibility Gene(Chromosome Location) Disorder or Syndrome Mode of Inheritance Phenotypic Features Associated CNS Tumors NF1 (17q11.2) Neurofibromatosis type 1 Dominant Neurofibromas, schwannomas, café-au-lait macules Astrocytoma, optic nerve glioma NF2 (22q12.2) Neurofibromatosis type 2 Dominant Acoustic neuromas, meningiomas, neurofibromas, eye lesions Meningioma, ependymoma VHL (3p25.3) von Hippel-Lindau disease Dominant Hemangioblastomas, renal cell carcinoma, pheochromocytoma, café-au-lait spots Hemangioblastoma TSC1, TSC2 (9q34.14,16p13.3) Tuberous sclerosis Dominant Development of multisystem nonmalignant tumors Giant cell astrocytoma, cortical tubers... Your Access profile is currently affiliated with [InstitutionA] and is in the process of switching affiliations to [InstitutionB]. Please select how you would like to proceed. Keep the current affiliation with [InstitutionA] and continue with the Access profile sign in process Switch affiliation to [InstitutionB] and continue with the Access profile sign in process Get Free Access Through Your Institution Learn how to see if your library subscribes to McGraw Hill Medical products. Subscribe: Institutional or Individual Sign In Error: Incorrect UserName or Password Username Error: Please enter User Name Password Error: Please enter Password Sign in Forgot Password? Forgot Username? Download the Access App: iOS | Android Sign in via OpenAthens Sign in via Shibboleth You already have access! Please proceed to your institution's subscription. Create a free profile for additional features.