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A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature

Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance...

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Autores principales: Jurca, Claudia Maria, Frățilă, Ovidiu, Iliaș, Tiberia, Jurca, Aurora, Cătana, Andreea, Moisa, Corina, Jurca, Alexandru Daniel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606311/
https://www.ncbi.nlm.nih.gov/pubmed/37895258
http://dx.doi.org/10.3390/genes14101909
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author Jurca, Claudia Maria
Frățilă, Ovidiu
Iliaș, Tiberia
Jurca, Aurora
Cătana, Andreea
Moisa, Corina
Jurca, Alexandru Daniel
author_facet Jurca, Claudia Maria
Frățilă, Ovidiu
Iliaș, Tiberia
Jurca, Aurora
Cătana, Andreea
Moisa, Corina
Jurca, Alexandru Daniel
author_sort Jurca, Claudia Maria
collection PubMed
description Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome.
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spelling pubmed-106063112023-10-28 A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature Jurca, Claudia Maria Frățilă, Ovidiu Iliaș, Tiberia Jurca, Aurora Cătana, Andreea Moisa, Corina Jurca, Alexandru Daniel Genes (Basel) Case Report Cowden syndrome (CS) is a rare disease that was first described in 1963 and later included in the large group of genodermatoses. It is the most common syndrome among the PTEN-associated hamartomatous tumor syndromes (PHTS). CS has an autosomal dominant inheritance pattern, with increased penetrance and variable expressivity, making early diagnosis difficult. Mutations in the PTEN gene (phosphatase and TENsin homolog) are involved in its pathogenesis, involving many organs and systems originating in the three embryonic layers (ectodermum, endodermum, and mesodermum). The consequence is the development of hamartomatous lesions in various organs (brain, intestines, thyroid, oropharyngeal cavity, colon, rectum, etc.). Multiple intestinal polyps are common in patients with CS, being identified in over 95% of patients undergoing colonoscopy. The authors describe the case of a patient who presented the first signs of the disease at 3 ½ years (tonsil polyp) but was diagnosed only at the age of 20 following a colonoscopy that revealed hundreds of intestinal polyps, suggesting further molecular testing. A heterozygous frameshift mutation was identified in the PTEN gene, classified as a potentially pathogenic variant (c.762del.p(Val255*)). The authors present this case to highlight the path taken by the patient from the first symptoms to the diagnosis and to emphasize the clinical aspects of this mutational variant that have still not been identified in other patients with this syndrome. MDPI 2023-10-05 /pmc/articles/PMC10606311/ /pubmed/37895258 http://dx.doi.org/10.3390/genes14101909 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Jurca, Claudia Maria
Frățilă, Ovidiu
Iliaș, Tiberia
Jurca, Aurora
Cătana, Andreea
Moisa, Corina
Jurca, Alexandru Daniel
A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
title A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
title_full A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
title_fullStr A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
title_full_unstemmed A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
title_short A New Frameshift Mutation of PTEN Gene Associated with Cowden Syndrome—Case Report and Brief Review of the Literature
title_sort new frameshift mutation of pten gene associated with cowden syndrome—case report and brief review of the literature
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10606311/
https://www.ncbi.nlm.nih.gov/pubmed/37895258
http://dx.doi.org/10.3390/genes14101909
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