Genetic Syndromes of Brain Tumors: Difference between revisions

From NeuroWiki
Jump to navigation Jump to search
VisualWikitext
(Created page with "<table> <tr> <th>Syndrome</th> <th>Affected Gene</th> <th>Mode of Inheritance</th> <th>Increased Risk for:</th> <th>Associated Nervous</th> <th>Glioma</th> <th>Medulloblastoma</th> <th>Meningioma</th> <th>Other System Neoplasms</th> <th>Extra–Nervous System Manifestations</th> </tr> <tr> <td>Neurofibromatosis type 1</td> <td>NF1</td> <td>AD</td> <td>X</td> <td>X</td>...")
 
No edit summary
Line 1: Line 1:
<table>
<table>
    <tr>
  <tr>
      <th>Syndrome</th>
    <th rowspan="2">Syndrome</th>
      <th>Affected Gene</th>
    <th rowspan="2">Affected Gene</th>
      <th>Mode of Inheritance</th>
    <th rowspan="2">Mode of Inheritance</th>
      <th>Increased Risk for:</th>
    <th colspan="4">Increased Risk for:</th>
      <th>Associated Nervous</th>
    <th rowspan="2">Other System Neoplasms</th>
      <th>Glioma</th>
    <th rowspan="2">Extra–Nervous System Manifestations</th>
      <th>Medulloblastoma</th>
  </tr>
      <th>Meningioma</th>
  <tr>
      <th>Other System Neoplasms</th>
    <th> Glioma  </th>
      <th>Extra–Nervous System Manifestations</th>
    <th>Medulloblastoma</th>
     </tr>
    <th>Meningioma</th>
    <tr>
     <th>Other</th>
      <td>Neurofibromatosis type 1</td>
  </tr>
      <td>NF1</td>
  <tr>
      <td>AD</td>
    <td>Neurofibromatosis type 1</td>
      <td>X</td>
    <td>NF1</td>
      <td>X</td>
    <td>AD</td>
      <td>Optic pathway glioma, pilocytic astrocytoma, meningioma, benign and malignant peripheral nerve sheath tumors</td>
    <td>X</td>
      <td>Café au lait macules, intertriginous freckling, bony dysplasia, iris hamartomas, breast cancer, pheochromocytoma, moyamoya disease, cognitive delay</td>
    <td></td>
    </tr>
    <td></td>
 
    <td>X</td>
<tr>
    <td>Optic pathway glioma, pilocytic astrocytoma, meningioma, benign and malignant peripheral nerve sheath tumors</td>
  <td>Neurofibromatosis type 2</td>
    <td>Café au lait macules, intertriginous freckling, bony dysplasia, iris hamartomas, breast cancer, pheochromocytoma, moyamoya disease, cognitive delay</td>
  <td>NF2</td>
  </tr>
  <td>AD</td>
  <tr>
  <td>X</td>
    <td>Neurofibromatosis type 2</td>
  <td>X</td>
    <td>NF2</td>
  <td>X</td>
    <td>AD</td>
  <td>Meningioma, vestibular schwannoma, ependymoma, astrocytoma</td>
    <td>X</td>
  <td>Juvenile posterior subcapsular cataracts</td>
    <td></td>
</tr>
    <td>X</td>
<tr>
    <td>X</td>
  <td>Familial schwannomatosis</td>
    <td>Meningioma, vestibular schwannoma, ependymoma, astrocytoma</td>
  <td>SMARCB1/INI1, LZTR1</td>
    <td>Juvenile posterior subcapsular cataracts</td>
  <td>AD</td>
  </tr>
  <td>X</td>
  <tr>
  <td>X</td>
    <td>Familial schwannomatosis</td>
  <td>Schwannoma, meningioma</td>
    <td>SMARCB1/INI1, LZTR1</td>
  <td></td>
    <td>AD</td>
</tr>
    <td></td>
<!-- Continue adding rows for other syndromes -->
    <td></td>
<tr>
    <td>X</td>
   <td>Tuberous sclerosis</td>
    <td>X</td>
  <td>TSC1, TSC2</td>
    <td>Schwannoma, meningioma</td>
  <td>AD</td>
    <td></td>
  <td>X</td>
  </tr>
  <td></td>
   <tr>
  <td>Ependymoma, subependymal giant cell astrocytoma, retinal astrocytoma</td>
    <td>Tuberous sclerosis</td>
  <td>Renal angiomyolipoma, myocardial rhabdomyoma, renal carcinoma, renal cysts, facial angiofibroma, gingival fibroma</td>
    <td>TSC1, TSC2</td>
</tr>
    <td>AD</td>
<tr>
    <td>X</td>
  <td>Von Hippel-Lindau disease</td>
    <td></td>
  <td>VHL</td>
    <td></td>
  <td>AD</td>
    <td></td>
  <td>X</td>
    <td>Ependymoma, subependymal giant cell astrocytoma, retinal astrocytoma</td>
  <td></td>
    <td>Renal angiomyolipoma, myocardial rhabdomyoma, renal carcinoma, renal cysts, facial angiofibroma, gingival fibroma</td>
  <td>Cerebellar hemangioblastoma, spinal cord hemangioblastoma</td>
  </tr>
  <td>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</td>
  <tr>
</tr>
    <td>Von Hippel-Lindau disease</td>
<!-- Continue adding rows for other syndromes -->
    <td>VHL</td>
<tr>
    <td>AD</td>
  <td>Li-Fraumeni syndrome</td>
    <td></td>
  <td>TP53</td>
    <td></td>
  <td>AD</td>
    <td></td>
  <td>X</td>
    <td>X</td>
  <td>Astrocytoma, glioblastoma</td>
    <td>Cerebellar hemangioblastoma, spinal cord hemangioblastoma</td>
  <td>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</td>
    <td>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</td>
</tr>
  </tr>
<tr>
  <tr>
  <td>Cowden disease</td>
    <td>Li-Fraumeni syndrome</td>
  <td>PTEN</td>
    <td>TP53</td>
  <td>AD</td>
    <td>AD</td>
  <td></td>
    <td>X</td>
  <td>Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)</td>
    <td></td>
  <td>Facial trichilemmomas, cutaneous neoplasms, intestinal hamartomas, risk for breast cancer, thyroid adenomas/carcinomas</td>
    <td></td>
</tr>
    <td></td>
<!-- Continue adding rows for other syndromes -->
    <td>Astrocytoma, glioblastoma</td>
<tr>
    <td>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</td>
  <td>Gorlin syndrome</td>
  </tr>
  <td>PTCH, PTCH1</td>
  <tr>
   <td>AD</td>
    <td>Cowden disease</td>
  <td>X</td>
    <td>PTEN</td>
  <td>Cerebellar medulloblastoma</td>
    <td>AD</td>
  <td>Basal cell nevi, basal cell carcinoma, cardiac fibroma, odontogenic keratocyst or polyostotic bone cyst, palmar or plantar pits, ectopic calcification, ovarian fibromas, ovarian carcinoma</td>
    <td></td>
</tr>
    <td></td>
<tr>
    <td></td>
  <td>Turcot syndrome</td>
    <td>X</td>
  <td>hMSH2, hMLH1, hPMS2, APC</td>
    <td>Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)</td>
  <td>AD</td>
    <td>Facial trichilemmomas, cutaneous neoplasms, intestinal hamartomas, risk for breast cancer, thyroid adenomas/carcinomas</td>
  <td>X</td>
   </tr>
   <td>Medulloblastoma, glioblastoma, astrocytoma, ependymoma</td>
  <tr>
  <td>Familial adenomatous polyposis (medulloblastoma), hereditary nonpolyposis colon cancer (glioblastoma), basal cell carcinoma, gastric carcinoma</td>
    <td>Gorlin syndrome</td>
</tr>
    <td>PTCH, PTCH1</td>
<!-- Continue adding rows for other syndromes -->
    <td>AD</td>
<tr>
    <td></td>
  <td>Carney complex</td>
    <td>X</td>
  <td>PRKAR1A</td>
    <td></td>
  <td>AD</td>
    <td></td>
  <td>X</td>
    <td>Cerebellar medulloblastoma</td>
  <td>Pituitary adenomas, psammomatous melanotic schwannoma</td>
    <td>Basal cell nevi, basal cell carcinoma, cardiac fibroma, odontogenic keratocyst or polyostotic bone cyst, palmar or plantar pits, ectopic calcification, ovarian fibromas, ovarian carcinoma</td>
   <td>Eyelid and atrial myxoma, myxoid subcutaneous tumors, testicular Sertoli cell tumor, pituitary adenoma, pheochromocytoma, mammary ductal fibroadenoma</td>
   </tr>
</tr>
  <tr>
<tr>
    <td>Turcot syndrome</td>
  <td>Rhabdoid tumor predisposition syndrome</td>
    <td>hMSH2, hMLH1, hPMS2, APC</td>
  <td>SMARCB1/INI1</td>
    <td>AD</td>
  <td>X</td>
    <td>X</td>
  <td>Malignant rhabdoid tumors (i.e., AT/RT)</td>
    <td>X</td>
  <td></td>
    <td></td>
</tr>
    <td></td>
<!-- Continue adding rows for other syndromes -->
    <td>Medulloblastoma, glioblastoma, astrocytoma, ependymoma</td>
<tr>
    <td>Familial adenomatous polyposis (medulloblastoma), hereditary nonpolyposis colon cancer (glioblastoma), basal cell carcinoma, gastric carcinoma</td>
  <td>Melanoma-astrocytoma syndrome</td>
   </tr>
  <td>CMM1, CMM2 or CDKN2A, CDK4</td>
  <tr>
   <td>AR</td>
    <td>Carney complex</td>
   <td>X</td>
    <td>PRKAR1A</td>
  <td>Cerebral astrocytoma and other CNS tumors</td>
    <td>AD</td>
  <td>Early-age melanoma, dysplastic nevi</td>
    <td></td>
</tr>
    <td></td>
<tr>
    <td></td>
  <td>Ataxia-telangiectasia</td>
    <td>X</td>
  <td>ATM</td>
    <td>Pituitary adenomas, psammomatous melanotic schwannoma</td>
  <td>AR</td>
    <td>Eyelid and atrial myxoma, myxoid subcutaneous tumors, testicular Sertoli cell tumor, pituitary adenoma, pheochromocytoma, mammary ductal fibroadenoma</td>
  <td>X</td>
   </tr>
  <td>Glioma, medulloblastoma</td>
   <tr>
  <td>Cerebellar ataxia, choreoathetosis, spinal muscular atrophy, cutaneous and conjunctival telangiectasias, variable immunodeficiency, risk for lymphoma, gastric cancer, and breast cancer</td>
    <td>Rhabdoid tumor predisposition syndrome</td>
</tr>
    <td>SMARCB1/INI1</td>
<!-- Continue adding rows for other syndromes -->
    <td></td>
<tr>
    <td></td>
  <td>Multiple endocrine neoplasia</td>
    <td></td>
  <td>MEN1</td>
    <td></td>
  <td>AD</td>
    <td>X</td>
  <td>X</td>
    <td>Malignant rhabdoid tumors (i.e., AT/RT)</td>
  <td>Pituitary adenomas</td>
    <td></td>
  <td>Pancreatic islet cell adenomas, parathyroid hyperplasia or adenomas</td>
  </tr>
</tr>
  <tr>
<tr>
    <td>Melanoma-astrocytoma syndrome</td>
  <td>Retinoblastoma</td>
    <td>CMM1, CMM2 or CDKN2A, CDK4</td>
  <td>RB1</td>
    <td>AR</td>
   <td>AD</td>
    <td>X</td>
   <td>X</td>
    <td></td>
  <td>Pineoblastoma (trilateral retinoblastoma)</td>
    <td></td>
   <td>Retinoblastoma, osteosarcoma, other malignant cancers</td>
    <td></td>
</tr>
    <td>Cerebral astrocytoma and other CNS tumors</td>
<!-- Continue adding rows for other syndromes -->
    <td>Early-age melanoma, dysplastic nevi</td>
 
   </tr>
   <tr>
    <td>Ataxia-telangiectasia</td>
    <td>ATM</td>
    <td>AR</td>
    <td>X</td>
    <td>X</td>
    <td></td>
    <td></td>
    <td>Glioma, medulloblastoma</td>
    <td>Cerebellar ataxia, choreoathetosis, spinal muscular atrophy, cutaneous and conjunctival telangiectasias, variable immunodeficiency, risk for lymphoma, gastric cancer, and breast cancer</td>
  </tr>
  <tr>
    <td>Multiple endocrine neoplasia</td>
    <td>MEN1</td>
    <td>AD</td>
    <td></td>
    <td></td>
    <td></td>
    <td>X</td>
    <td>Pituitary adenomas</td>
    <td>Pancreatic islet cell adenomas, parathyroid hyperplasia or adenomas</td>
  </tr>
  <tr>
    <td>Retinoblastoma</td>
    <td>RB1</td>
    <td>AD</td>
    <td></td>
    <td></td>
    <td></td>
    <td>X</td>
    <td>Pineoblastoma (trilateral retinoblastoma)</td>
    <td>Retinoblastoma, osteosarcoma, other malignant cancers</td>
   </tr>
</table>
</table>

Revision as of 17:53, 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
Retrieved from "https://www.fmichael1.com//wiki/index.php?title=Genetic_Syndromes_of_Brain_Tumors&oldid=830"