Genetic Syndromes of Brain Tumors

Syndrome	Affected Gene	Mode of Inheritance	Increased Risk for:				Other System Neoplasms	Extra–Nervous System Manifestations
			Glioma	Medulloblastoma	Meningioma	Other
Neurofibromatosis type 1	NF1	AD	X			X	Optic pathway glioma, pilocytic astrocytoma, meningioma, benign and malignant peripheral nerve sheath tumors	Café au lait macules, intertriginous freckling, bony dysplasia, iris hamartomas, breast cancer, pheochromocytoma, moyamoya disease, cognitive delay
Neurofibromatosis type 2	NF2	AD	X		X	X	Meningioma, vestibular schwannoma, ependymoma, astrocytoma	Juvenile posterior subcapsular cataracts
Familial schwannomatosis	SMARCB1/INI1, LZTR1	AD			X	X	Schwannoma, meningioma
Tuberous sclerosis	TSC1, TSC2	AD	X				Ependymoma, subependymal giant cell astrocytoma, retinal astrocytoma	Renal angiomyolipoma, myocardial rhabdomyoma, renal carcinoma, renal cysts, facial angiofibroma, gingival fibroma
Von Hippel-Lindau disease	VHL	AD				X	Cerebellar hemangioblastoma, spinal cord hemangioblastoma	Pulmonary, renal, liver hemangioma, pancreatic and renal hemangioblastoma, bilateral papillary cystadenoma of the epididymis, renal cell carcinoma, hypernephroma, paraganglioma, pheochromocytoma, pancreatic cancer, adenocarcinoma of ampulla of Vater
Li-Fraumeni syndrome	TP53	AD	X				Astrocytoma, glioblastoma	Rhabdomyosarcoma, soft tissue sarcoma, osteosarcoma, breast cancer, leukemia, melanoma, adrenocortical carcinoma, lymphocytic or histiocytic lymphoma, lung adenocarcinoma, gonadal germ cell tumors, prostate and pancreatic carcinoma
Cowden disease	PTEN	AD				X	Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)	Facial trichilemmomas, cutaneous neoplasms, intestinal hamartomas, risk for breast cancer, thyroid adenomas/carcinomas
Gorlin syndrome	PTCH, PTCH1	AD		X			Cerebellar medulloblastoma	Basal cell nevi, basal cell carcinoma, cardiac fibroma, odontogenic keratocyst or polyostotic bone cyst, palmar or plantar pits, ectopic calcification, ovarian fibromas, ovarian carcinoma
Turcot syndrome	hMSH2, hMLH1, hPMS2, APC	AD	X	X			Medulloblastoma, glioblastoma, astrocytoma, ependymoma	Familial adenomatous polyposis (medulloblastoma), hereditary nonpolyposis colon cancer (glioblastoma), basal cell carcinoma, gastric carcinoma
Carney complex	PRKAR1A	AD				X	Pituitary adenomas, psammomatous melanotic schwannoma	Eyelid and atrial myxoma, myxoid subcutaneous tumors, testicular Sertoli cell tumor, pituitary adenoma, pheochromocytoma, mammary ductal fibroadenoma
Rhabdoid tumor predisposition syndrome	SMARCB1/INI1					X	Malignant rhabdoid tumors (i.e., AT/RT)
Melanoma-astrocytoma syndrome	CMM1, CMM2 or CDKN2A, CDK4	AR	X				Cerebral astrocytoma and other CNS tumors	Early-age melanoma, dysplastic nevi
Ataxia-telangiectasia	ATM	AR	X	X			Glioma, medulloblastoma	Cerebellar ataxia, choreoathetosis, spinal muscular atrophy, cutaneous and conjunctival telangiectasias, variable immunodeficiency, risk for lymphoma, gastric cancer, and breast cancer
Multiple endocrine neoplasia	MEN1	AD				X	Pituitary adenomas	Pancreatic islet cell adenomas, parathyroid hyperplasia or adenomas
Retinoblastoma	RB1	AD				X	Pineoblastoma (trilateral retinoblastoma)	Retinoblastoma, osteosarcoma, other malignant cancers