A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome
Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the re...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Neurological Medicine |
| Online Access: | http://dx.doi.org/10.1155/2019/6091059 |
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| _version_ | 1850166967242063872 |
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| author | Boonchai Boonyawat Mongkon Charoenpitakchai Piradee Suwanpakdee |
| author_facet | Boonchai Boonyawat Mongkon Charoenpitakchai Piradee Suwanpakdee |
| author_sort | Boonchai Boonyawat |
| collection | DOAJ |
| description | Noonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the report of brain tumors in Noonan syndrome remains rather rare. Here, we report the first case of an 11-year-old Thai boy with Noonan syndrome who presented with symptoms related to hydrocephalus secondary to subependymoma in the fourth ventricle, and PTPN11 mutation was identified in this patient. |
| format | Article |
| id | doaj-art-e4b94e50e5d54d699540cd4d2511d422 |
| institution | OA Journals |
| issn | 2090-6668 2090-6676 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Neurological Medicine |
| spelling | doaj-art-e4b94e50e5d54d699540cd4d2511d4222025-08-20T02:21:18ZengWileyCase Reports in Neurological Medicine2090-66682090-66762019-01-01201910.1155/2019/60910596091059A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan SyndromeBoonchai Boonyawat0Mongkon Charoenpitakchai1Piradee Suwanpakdee2Division of Genetics, Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, ThailandDepartment of Pathology, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, ThailandDivision of Neurology, Department of Pediatrics, Phramongkutklao Hospital and Phramongkutklao College of Medicine, Bangkok, ThailandNoonan syndrome (NS) is an autosomal dominant disorder in some cases caused by PTPN11 mutations. Since somatic mutations in PTPN11 are seen in several tumor types, NS which causes germline PTPN11 mutations are also increase the risk of hematologic malignancies and brain solid tumors. However, the report of brain tumors in Noonan syndrome remains rather rare. Here, we report the first case of an 11-year-old Thai boy with Noonan syndrome who presented with symptoms related to hydrocephalus secondary to subependymoma in the fourth ventricle, and PTPN11 mutation was identified in this patient.http://dx.doi.org/10.1155/2019/6091059 |
| spellingShingle | Boonchai Boonyawat Mongkon Charoenpitakchai Piradee Suwanpakdee A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome Case Reports in Neurological Medicine |
| title | A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome |
| title_full | A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome |
| title_fullStr | A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome |
| title_full_unstemmed | A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome |
| title_short | A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome |
| title_sort | first case report of subependymoma in ptpn11 mutation associated noonan syndrome |
| url | http://dx.doi.org/10.1155/2019/6091059 |
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