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PIK3CA-related overgrowth with an uncommon phenotype: case report
BACKGROUND: Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined “PIK3CA-related overgrowth spectrum”. CASE PRESENTATION: We...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097398/ https://www.ncbi.nlm.nih.gov/pubmed/35551640 http://dx.doi.org/10.1186/s13052-022-01268-9 |
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author | Rotunno, Roberta Diociaiuti, Andrea Pisaneschi, Elisa Carnevale, Claudia Dentici, Marialisa El Hachem, May |
author_facet | Rotunno, Roberta Diociaiuti, Andrea Pisaneschi, Elisa Carnevale, Claudia Dentici, Marialisa El Hachem, May |
author_sort | Rotunno, Roberta |
collection | PubMed |
description | BACKGROUND: Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined “PIK3CA-related overgrowth spectrum”. CASE PRESENTATION: We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy. CONCLUSIONS: NGS is the preferred method for molecular diagnosis of PROS on affected skin and overgrown tissues as primary samples. The wide phenotypic variability is based on the distribution of mosaicism, in fact the same mutation can cause different PIK3CA related disorders. Continuous understanding of the clinical spectrum and of molecular basis of PROS and their overlap will lead to improve diagnosis, management and new treatment strategies. |
format | Online Article Text |
id | pubmed-9097398 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-90973982022-05-13 PIK3CA-related overgrowth with an uncommon phenotype: case report Rotunno, Roberta Diociaiuti, Andrea Pisaneschi, Elisa Carnevale, Claudia Dentici, Marialisa El Hachem, May Ital J Pediatr Case Report BACKGROUND: Megalencephaly-capillary malformation syndrome is a rare multiple-malformation syndrome secondary to somatic activating mutations in the PI3K-AKT-MTOR pathway. This is included in a heterogeneous group of disorders, now defined “PIK3CA-related overgrowth spectrum”. CASE PRESENTATION: We report a 22-months-old female presenting an uncommon phenotype associated with a genetic mosaicism in the PIK3CA gene, detected on DNA extracted from blood peripheral and tissue biopsy. CONCLUSIONS: NGS is the preferred method for molecular diagnosis of PROS on affected skin and overgrown tissues as primary samples. The wide phenotypic variability is based on the distribution of mosaicism, in fact the same mutation can cause different PIK3CA related disorders. Continuous understanding of the clinical spectrum and of molecular basis of PROS and their overlap will lead to improve diagnosis, management and new treatment strategies. BioMed Central 2022-05-12 /pmc/articles/PMC9097398/ /pubmed/35551640 http://dx.doi.org/10.1186/s13052-022-01268-9 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Rotunno, Roberta Diociaiuti, Andrea Pisaneschi, Elisa Carnevale, Claudia Dentici, Marialisa El Hachem, May PIK3CA-related overgrowth with an uncommon phenotype: case report |
title | PIK3CA-related overgrowth with an uncommon phenotype: case report |
title_full | PIK3CA-related overgrowth with an uncommon phenotype: case report |
title_fullStr | PIK3CA-related overgrowth with an uncommon phenotype: case report |
title_full_unstemmed | PIK3CA-related overgrowth with an uncommon phenotype: case report |
title_short | PIK3CA-related overgrowth with an uncommon phenotype: case report |
title_sort | pik3ca-related overgrowth with an uncommon phenotype: case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9097398/ https://www.ncbi.nlm.nih.gov/pubmed/35551640 http://dx.doi.org/10.1186/s13052-022-01268-9 |
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