Cited by 366Genetic and rare skin diseases.PI3K/AKT/mTOR signaling in cancerTuberous Sclerosis Complex Research

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PTEN hamartoma tumor syndrome: An overview

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Hobert, Judith A., Eng, Charis·2009·Genetics in Medicine

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Abstract

PTEN hamartoma tumor syndrome (PHTS) encompasses four major clinically distinct syndromes associated with germline mutations in the tumor suppressor PTEN. These allelic disorders, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, and Proteus-like syndrome are associated with unregulated cellular proliferation leading to the formation of hamartomas. Thus far, an increased risk of malignancy has only been documented in Cowden syndrome; however, current recommendations advise that all individuals with PTEN hamartoma tumor syndrome follow the cancer surveillance strategies suggested for Cowden syndrome until further data indicate otherwise. Because any individual phenotypic feature of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome are frequently present in the general population, many individuals often go undiagnosed and consequently do not benefit from available cancer surveillance strategies. Therefore, it is critical for clinicians to recognize the phenotypic features associated with these syndromes to accurately diagnose and provide preventative care. This overview details the clinical description of the PTEN hamartoma tumor syndrome and associated disorders, their diagnosis and molecular/genetic testing, as well as differential diagnosis for assessment of other hamartoma-associated syndromes.

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Authors: Hobert, J. A., & Eng, C.
Affiliations: Cleveland Clinic (US)
Corresponding author: Eng, Charis
ORCID: Hobert, Judith A.
Eng, Charis
Venue: Genetics in Medicine
Publisher: Elsevier BV
Published: 2009-10
Volume: 11
Issue: 10
Pages: 687-694
ISSN: 1098-3600 (ISSN-L)
DOI: 10.1097/gim.0b013e3181ac9aea
OpenAlex: W2046744395
Cited by: 366
References: 36
Citations by year: 2026: 15 · 2025: 14 · 2024: 15 · 2023: 18 · 2022: 16 · 2021: 16 · 2020: 23 · 2019: 22 · 2018: 22 · 2017: 32 · 2016: 19 · 2015: 21 · 2014: 25 · 2013: 25 · 2012: 35
FWCI: 2.53
Type: journal article
Language: en
Open access: bronze
doi.org
Licence: www.elsevier.com/tdm/userlicense/1.0/ (tdm)
www.elsevier.com/legal/tdmrep-license (tdm)
www.elsevier.com/open-access/userlicense/1.0/ (vor, 4493 d)
Locations: Genetics in Medicine (publishedVersion)
PubMed (publishedVersion)
Topics: Health Sciences › Medicine › Dermatology › Genetic and rare skin diseases.
Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
Keywords: PTEN hamartoma tumor syndrome, Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, PTEN germline mutation, hamartoma, cancer surveillance, tumor suppressor, differential diagnosis, genetic testing
MeSH terms: Diagnosis, Differential, Genetic Counseling, Hamartoma Syndrome, Multiple, Humans, Molecular Diagnostic Techniques

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