Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas
Objectives:. Eccrine angiomatous hamartoma (EAH) is a rare vascular anomaly with mixed eccrine and vascular components, typically identified in children. While benign, EAH can cause significant morbidity and be difficult to treat. The aims of this case series were to identify all patients with EAH t...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Health/LWW
2023-12-01
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| Series: | Journal of Vascular Anomalies |
| Online Access: | http://journals.lww.com/10.1097/JOVA.0000000000000071 |
| _version_ | 1797405156990517248 |
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| author | Lana Bricknell Christopher M. Richmond Romi Das Gupta Diane Payton Yun Phua Roy M. Kimble |
| author_facet | Lana Bricknell Christopher M. Richmond Romi Das Gupta Diane Payton Yun Phua Roy M. Kimble |
| author_sort | Lana Bricknell |
| collection | DOAJ |
| description | Objectives:. Eccrine angiomatous hamartoma (EAH) is a rare vascular anomaly with mixed eccrine and vascular components, typically identified in children. While benign, EAH can cause significant morbidity and be difficult to treat. The aims of this case series were to identify all patients with EAH that have been seen at the Queensland Children’s Hospital and describe their phenotypic and somatic genotypic details, in an effort to contribute to the limiting understanding and literature surrounding this condition.
Methods:. Individuals with EAH were retrospectively identified through engagement in a multidisciplinary vascular anomaly clinic in a tertiary Australian children’s hospital. All individuals had a previous histological diagnosis of EAH. High-read-depth sequencing of a panel of 27 genes known to be associated with vascular anomalies was undertaken on affected tissue. Samples were rereviewed by a senior pathologist and geneticist for this study.
Results:. Five cases of EAH were identified. All were associated with 1 of 3 somatic PIK3CA variants (c.1633G>A;p.Glu545Lys, c.1624G>A;p.Glu542Lys, and c.3140A>G;p.Histo1047Arg) in low allele fractions. These variants have previously been reported in a range of tumors and vascular anomalies, including PIK3CA-related overgrowth spectrum, but not in EAH.
Conclusion:. Occurrence of somatic PIK3CA variants in EAH provides evidence for a novel gene-disease association and is plausibly the cause of EAH in some individuals. This finding expands the phenotypic spectrum of PIK3CA, contributes to understanding of the pathophysiology of this rare condition, and may avail molecularly targeted therapy in the future. |
| first_indexed | 2024-03-09T03:05:42Z |
| format | Article |
| id | doaj.art-1aa3645641574e2b9228da34aa7d6c43 |
| institution | Directory Open Access Journal |
| issn | 2690-2702 |
| language | English |
| last_indexed | 2024-03-09T03:05:42Z |
| publishDate | 2023-12-01 |
| publisher | Wolters Kluwer Health/LWW |
| record_format | Article |
| series | Journal of Vascular Anomalies |
| spelling | doaj.art-1aa3645641574e2b9228da34aa7d6c432023-12-04T07:07:47ZengWolters Kluwer Health/LWWJournal of Vascular Anomalies2690-27022023-12-0144e07110.1097/JOVA.0000000000000071202312000-00006Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous HamartomasLana Bricknell0Christopher M. Richmond1Romi Das Gupta2Diane Payton3Yun Phua4Roy M. Kimble5a Paediatric Surgery, Queensland Children’s Hospital, South Brisbane, Queensland, Australiab Genetic Health Queensland, Royal Brisbane and Women’s Hospital, Herston, Queensland, Australiaa Paediatric Surgery, Queensland Children’s Hospital, South Brisbane, Queensland, Australiac Pathology Queensland, Queensland Children’s Hospital, South Brisbane, Queensland, Australiaa Paediatric Surgery, Queensland Children’s Hospital, South Brisbane, Queensland, Australiaa Paediatric Surgery, Queensland Children’s Hospital, South Brisbane, Queensland, AustraliaObjectives:. Eccrine angiomatous hamartoma (EAH) is a rare vascular anomaly with mixed eccrine and vascular components, typically identified in children. While benign, EAH can cause significant morbidity and be difficult to treat. The aims of this case series were to identify all patients with EAH that have been seen at the Queensland Children’s Hospital and describe their phenotypic and somatic genotypic details, in an effort to contribute to the limiting understanding and literature surrounding this condition. Methods:. Individuals with EAH were retrospectively identified through engagement in a multidisciplinary vascular anomaly clinic in a tertiary Australian children’s hospital. All individuals had a previous histological diagnosis of EAH. High-read-depth sequencing of a panel of 27 genes known to be associated with vascular anomalies was undertaken on affected tissue. Samples were rereviewed by a senior pathologist and geneticist for this study. Results:. Five cases of EAH were identified. All were associated with 1 of 3 somatic PIK3CA variants (c.1633G>A;p.Glu545Lys, c.1624G>A;p.Glu542Lys, and c.3140A>G;p.Histo1047Arg) in low allele fractions. These variants have previously been reported in a range of tumors and vascular anomalies, including PIK3CA-related overgrowth spectrum, but not in EAH. Conclusion:. Occurrence of somatic PIK3CA variants in EAH provides evidence for a novel gene-disease association and is plausibly the cause of EAH in some individuals. This finding expands the phenotypic spectrum of PIK3CA, contributes to understanding of the pathophysiology of this rare condition, and may avail molecularly targeted therapy in the future.http://journals.lww.com/10.1097/JOVA.0000000000000071 |
| spellingShingle | Lana Bricknell Christopher M. Richmond Romi Das Gupta Diane Payton Yun Phua Roy M. Kimble Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas Journal of Vascular Anomalies |
| title | Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas |
| title_full | Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas |
| title_fullStr | Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas |
| title_full_unstemmed | Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas |
| title_short | Somatic PIK3CA Variants Are Associated With Eccrine Angiomatous Hamartomas |
| title_sort | somatic pik3ca variants are associated with eccrine angiomatous hamartomas |
| url | http://journals.lww.com/10.1097/JOVA.0000000000000071 |
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