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PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly
PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576994/ https://www.ncbi.nlm.nih.gov/pubmed/37846420 http://dx.doi.org/10.1093/jscr/rjad549 |
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author | Krishnamurthy, Kritika Edema, Ukuemi Ustun, Berrin Villanueva-Siles, Esperanza Koehler, Steven M Naeem, Rizwan Wang, Yanhua Goldstein, Doctor Y |
author_facet | Krishnamurthy, Kritika Edema, Ukuemi Ustun, Berrin Villanueva-Siles, Esperanza Koehler, Steven M Naeem, Rizwan Wang, Yanhua Goldstein, Doctor Y |
author_sort | Krishnamurthy, Kritika |
collection | PubMed |
description | PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity. |
format | Online Article Text |
id | pubmed-10576994 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | Oxford University Press |
record_format | MEDLINE/PubMed |
spelling | pubmed-105769942023-10-16 PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly Krishnamurthy, Kritika Edema, Ukuemi Ustun, Berrin Villanueva-Siles, Esperanza Koehler, Steven M Naeem, Rizwan Wang, Yanhua Goldstein, Doctor Y J Surg Case Rep Case Report PIK3CA-related overgrowth spectrum (PROS) is a heterogeneous group of diseases, with varied clinical presentations ranging from isolated segmental overgrowths to megalencephaly and vascular malformations, all resulting from post-zygotic activating mutations in PIK3CA. Isolated macrodactyly of upper limb is extremely rare, accounting only for 0.9%–1% of all congenital anomalies of the upper limb. This report describes a case of congenital, isolated, nonprogressive macrodactyly of the right index finger and thumb, in an adult patient that was treated with debulking surgery. The microscopic features were compatible with lipomatosis of nerve. Due to the prompt and pertinent molecular testing, which identified a somatic PIK3CA variant, c.3140A > G, p.H1047R., the case was classified as a PROS. The availability of mTOR inhibitors offers additional treatment possibilities in cases with progressive disease. This case report highlights the importance of molecular testing to identify PROS, to further the knowledge of this continually expanding entity. Oxford University Press 2023-10-14 /pmc/articles/PMC10576994/ /pubmed/37846420 http://dx.doi.org/10.1093/jscr/rjad549 Text en Published by Oxford University Press and JSCR Publishing Ltd. © The Author(s) 2023. https://creativecommons.org/licenses/by/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Krishnamurthy, Kritika Edema, Ukuemi Ustun, Berrin Villanueva-Siles, Esperanza Koehler, Steven M Naeem, Rizwan Wang, Yanhua Goldstein, Doctor Y PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly |
title | PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly |
title_full | PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly |
title_fullStr | PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly |
title_full_unstemmed | PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly |
title_short | PIK3CA-related overgrowth spectrum (PROS) presenting as isolated macrodactyly |
title_sort | pik3ca-related overgrowth spectrum (pros) presenting as isolated macrodactyly |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10576994/ https://www.ncbi.nlm.nih.gov/pubmed/37846420 http://dx.doi.org/10.1093/jscr/rjad549 |
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