De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis
Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and...
Saved in:
| Main Authors: | , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2017-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2017/9682803 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849685620759199744 |
|---|---|
| author | Angela Mauro Ebun Omoyinmi Neil James Sebire Angela Barnicoat Paul Brogan |
| author_facet | Angela Mauro Ebun Omoyinmi Neil James Sebire Angela Barnicoat Paul Brogan |
| author_sort | Angela Mauro |
| collection | DOAJ |
| description | Phosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations. We describe a case of PHTS syndrome caused by a de novo mutation in PTEN detected using a targeted next generation sequencing (NGS) gene panel which was instigated for workup of cutaneous vasculitis. We highlight the diagnostic utility of this approach and that mutations in PTEN may be associated with immune-dysregulatory features such as vasculitis in young children. |
| format | Article |
| id | doaj-art-be4dd530c15f4d71ad9b449f9aa32b4d |
| institution | DOAJ |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2017-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-be4dd530c15f4d71ad9b449f9aa32b4d2025-08-20T03:23:03ZengWileyCase Reports in Pediatrics2090-68032090-68112017-01-01201710.1155/2017/96828039682803De Novo PTEN Mutation in a Young Boy with Cutaneous VasculitisAngela Mauro0Ebun Omoyinmi1Neil James Sebire2Angela Barnicoat3Paul Brogan4Department of Paediatrics, San Giacomo Hospital, Via Edilio Raggio, Novi Ligure, ItalyInfection, Inflammation, and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, UKDepartment of Histopathology, Great Ormond Street Hospital NHS Foundation Trust, London, UKDepartment of Clinical Genetics, Great Ormond Street Hospital NHS Foundation Trust, London, UKInfection, Inflammation, and Rheumatology Section, UCL Great Ormond Street Institute of Child Health, London, UKPhosphatase and tensin homolog (PTEN) is the protein encoded by the PTEN gene (10q23.3). PTEN mutations are related to a variety of rare diseases referred to collectively as PTEN hamartoma tumor syndromes (PHTS), which include Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus Syndrome, and Proteus-like syndrome. These diseases are associated with an increased risk of malignancy and for this reason an accurate and early diagnosis is essential in order to institute cancer surveillance. PTEN is a regulator of growth and homeostasis in immune system cells, although there are limited data describing immune dysregulation caused by PTEN mutations. We describe a case of PHTS syndrome caused by a de novo mutation in PTEN detected using a targeted next generation sequencing (NGS) gene panel which was instigated for workup of cutaneous vasculitis. We highlight the diagnostic utility of this approach and that mutations in PTEN may be associated with immune-dysregulatory features such as vasculitis in young children.http://dx.doi.org/10.1155/2017/9682803 |
| spellingShingle | Angela Mauro Ebun Omoyinmi Neil James Sebire Angela Barnicoat Paul Brogan De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis Case Reports in Pediatrics |
| title | De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis |
| title_full | De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis |
| title_fullStr | De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis |
| title_full_unstemmed | De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis |
| title_short | De Novo PTEN Mutation in a Young Boy with Cutaneous Vasculitis |
| title_sort | de novo pten mutation in a young boy with cutaneous vasculitis |
| url | http://dx.doi.org/10.1155/2017/9682803 |
| work_keys_str_mv | AT angelamauro denovoptenmutationinayoungboywithcutaneousvasculitis AT ebunomoyinmi denovoptenmutationinayoungboywithcutaneousvasculitis AT neiljamessebire denovoptenmutationinayoungboywithcutaneousvasculitis AT angelabarnicoat denovoptenmutationinayoungboywithcutaneousvasculitis AT paulbrogan denovoptenmutationinayoungboywithcutaneousvasculitis |