PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report

We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected PIK3CAc.3140A>G mutation in the patient's affected tissue allowing for PROS (PIK3CA‐related overgrowth spectrum) diagnosis. The overlapping clinical fea...

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Autores principales: Valentini, Virginia, Zelli, Veronica, Rizzolo, Piera, Silvestri, Valentina, Alimandi, Maurizio, D'Aloia, Maria Michela, Giustini, Sandra, Calvieri, Stefano, Richetta, Antonio Giovanni, Monteleone, Giovanni, Ottini, Laura
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028416/
https://www.ncbi.nlm.nih.gov/pubmed/29988677
http://dx.doi.org/10.1002/ccr3.1546
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author Valentini, Virginia
Zelli, Veronica
Rizzolo, Piera
Silvestri, Valentina
Alimandi, Maurizio
D'Aloia, Maria Michela
Giustini, Sandra
Calvieri, Stefano
Richetta, Antonio Giovanni
Monteleone, Giovanni
Ottini, Laura
author_facet Valentini, Virginia
Zelli, Veronica
Rizzolo, Piera
Silvestri, Valentina
Alimandi, Maurizio
D'Aloia, Maria Michela
Giustini, Sandra
Calvieri, Stefano
Richetta, Antonio Giovanni
Monteleone, Giovanni
Ottini, Laura
author_sort Valentini, Virginia
collection PubMed
description We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected PIK3CAc.3140A>G mutation in the patient's affected tissue allowing for PROS (PIK3CA‐related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis.
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spelling pubmed-60284162018-07-09 PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report Valentini, Virginia Zelli, Veronica Rizzolo, Piera Silvestri, Valentina Alimandi, Maurizio D'Aloia, Maria Michela Giustini, Sandra Calvieri, Stefano Richetta, Antonio Giovanni Monteleone, Giovanni Ottini, Laura Clin Case Rep Case Reports We present a patient with suspected Proteus Syndrome, an overgrowth disorder associated with AKT1c.49G>A mutation. NGS analysis detected PIK3CAc.3140A>G mutation in the patient's affected tissue allowing for PROS (PIK3CA‐related overgrowth spectrum) diagnosis. The overlapping clinical features in overgrowth disorders highlight the importance of molecular testing for a correct diagnosis. John Wiley and Sons Inc. 2018-06-02 /pmc/articles/PMC6028416/ /pubmed/29988677 http://dx.doi.org/10.1002/ccr3.1546 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Valentini, Virginia
Zelli, Veronica
Rizzolo, Piera
Silvestri, Valentina
Alimandi, Maurizio
D'Aloia, Maria Michela
Giustini, Sandra
Calvieri, Stefano
Richetta, Antonio Giovanni
Monteleone, Giovanni
Ottini, Laura
PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
title PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
title_full PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
title_fullStr PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
title_full_unstemmed PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
title_short PIK3CA c.3140A>G mutation in a patient with suspected Proteus Syndrome: a case report
title_sort pik3ca c.3140a>g mutation in a patient with suspected proteus syndrome: a case report
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6028416/
https://www.ncbi.nlm.nih.gov/pubmed/29988677
http://dx.doi.org/10.1002/ccr3.1546
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