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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Autores principales: Boonyawat, Boonchai, Charoenpitakchai, Mongkon, Suwanpakdee, Piradee
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766114/
https://www.ncbi.nlm.nih.gov/pubmed/31637070
http://dx.doi.org/10.1155/2019/6091059
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author Boonyawat, Boonchai
Charoenpitakchai, Mongkon
Suwanpakdee, Piradee
author_facet Boonyawat, Boonchai
Charoenpitakchai, Mongkon
Suwanpakdee, Piradee
author_sort Boonyawat, Boonchai
collection PubMed
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.
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spelling pubmed-67661142019-10-21 A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome Boonyawat, Boonchai Charoenpitakchai, Mongkon Suwanpakdee, Piradee Case Rep Neurol Med Case Report 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. Hindawi 2019-09-16 /pmc/articles/PMC6766114/ /pubmed/31637070 http://dx.doi.org/10.1155/2019/6091059 Text en Copyright © 2019 Boonchai Boonyawat et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Boonyawat, Boonchai
Charoenpitakchai, Mongkon
Suwanpakdee, Piradee
A First Case Report of Subependymoma in PTPN11 Mutation-Associated Noonan Syndrome
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
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6766114/
https://www.ncbi.nlm.nih.gov/pubmed/31637070
http://dx.doi.org/10.1155/2019/6091059
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