Genetic Syndromes of Brain Tumors: Difference between revisions
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<table class="wikitable" style="font-size:12px"> | <table class="wikitable" style="font-size:12px"> | ||
<tr> | <tr> | ||
<th rowspan="2">Syndrome</th> | <th rowspan="2" style="width: 18%;">Syndrome</th> | ||
<th rowspan="2">Affected Gene</th> | <th rowspan="2">Affected Gene</th> | ||
<th rowspan="2">Mode of Inheritance</th> | <th rowspan="2">Mode of Inheritance</th> | ||
<th colspan="4">Increased Risk for:</th> | <th colspan="4">Increased Risk for:</th> | ||
<th rowspan="2">Other System Neoplasms</th> | <th rowspan="2">Other System Neoplasms</th> | ||
<th rowspan="2">Extra–Nervous System Manifestations</th> | <th rowspan="2" style="width: 20%;">Extra–Nervous System Manifestations</th> | ||
</tr> | </tr> | ||
<tr> | <tr> | ||
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</tr> | </tr> | ||
<tr> | <tr> | ||
<td>Von Hippel-Lindau disease</td> | <td>[[Von Hippel-Lindau disease]]</td> | ||
<td>VHL</td> | <td>VHL</td> | ||
<td>AD</td> | <td>AD</td> | ||
Latest revision as of 21:05, 3 March 2024
| 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 | |||