PTEN hamartoma tumor syndrome: an overview
Open accessAbstract
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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PTEN is an important tumour suppressor gene mutated in 6% of colorectal cancers.
“It is an important tumour suppressor gene mutated in 6% of colorectal cancers (CRCs), and germline variants in PTEN are causative of PTEN hamartoma tumour syndrome (Hobert and Eng, 2009; Cerami et al., 2012).”
From Efficient genetic editing of human intestinal organoids using ribonucleoprotein-based CRISPR (2023) · cites this paper as Hobert and Eng, 2009
The overview identifies PTEN as a tumor suppressor and says germline PTEN mutations cause Cowden syndrome, a PTEN hamartoma tumor syndrome (opening section; page not specified). It does not report that PTEN is mutated in 6% of colorectal cancers; searches for that figure and colorectal cancer mutation frequency found no supporting passage. (LLM, conf=0.88)
Experimental — accuracy not yet measuredGermline variants in PTEN are causative of PTEN hamartoma tumour syndrome.
“It is an important tumour suppressor gene mutated in 6% of colorectal cancers (CRCs), and germline variants in PTEN are causative of PTEN hamartoma tumour syndrome (Hobert and Eng, 2009; Cerami et al., 2012).”
From Efficient genetic editing of human intestinal organoids using ribonucleoprotein-based CRISPR (2023) · cites this paper as Hobert and Eng, 2009
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PTEN expression and function in adult cancer stem cells and prospects for therapeutic targeting
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Hereditary breast cancer: syndromes, tumour pathology and molecular testing
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Oral rapamycin in the treatment of patients with hamartoma syndromes and PTEN mutation
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PTEN Inhibition in Human Disease Therapy
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Neurobiology of autism gene products: towards pathogenesis and drug targets
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Congenital Limb Overgrowth Syndromes Associated with Vascular Anomalies
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PTEN regulates cilia through Dishevelled
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Molecular Pathology of Skin Neoplasms of the Head and Neck
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Hereditary melanoma: Update on syndromes and management
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Should patients with Cowden syndrome undergo prophylactic thyroidectomy?
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Self-citationSecondary Prevention in Hereditary Breast and/or Ovarian Cancer Syndromes Other Than BRCA
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The membrane surface as a platform that organizes cellular and biochemical processes
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The differential diagnosis of familial lentiginosis syndromes
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The Role of PARP Inhibitors in the Treatment of Gynecologic Malignancies
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Personalized Medicine—Current and Emerging Predictive and Prognostic Biomarkers in Colorectal Cancer
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PTEN Controls the DNA Replication Process through MCM2 in Response to Replicative Stress
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Self-citationPTEN knockdown alters dendritic spine/protrusion morphology, not density
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An update on the CNS manifestations of brain tumor polyposis syndromes
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Overview of the genetic basis toward early detection of breast cancer
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Elevated plasma succinate in PTEN, SDHB, and SDHD mutation–positive individuals
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Self-citationAKT and the Hallmarks of Cancer
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Molecular changes associated with vascular malformations
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Vascular Anomalies in Pediatrics
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Clinical Genetics of Hereditary Colorectal Cancer
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Molecular features of thyroid oncocytic tumors
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Self-citationLipid-dependent Akt-ivity: where, when, and how
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Genetic Testing and Screening Recommendations for Patients with Hereditary Breast Cancer
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Progress in Thyroid Cancer Genomics: A 40-Year Journey
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Clinical Management of Hereditary Breast Cancer Syndromes
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Mechanistic Analysis of a DNA Damage-Induced, PTEN-Dependent Size Checkpoint in Human Cells
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Phosphoinositide 3-Kinase-Dependent Signalling Pathways in Cutaneous Squamous Cell Carcinomas
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PTEN Mediates Activation of Core Clock Protein BMAL1 and Accumulation of Epidermal Stem Cells
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Cancer Risk in Klippel–Trenaunay Syndrome
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Role of Inositol Poly-Phosphatases and Their Targets in T Cell Biology
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- Authors
- Hobert, J. A., & Eng, C.
- Affiliations
- Cleveland Clinic (US)
- Corresponding author
- Eng, Charis
- Venue
- Genetics in Medicine
- Publisher
- Elsevier BV
- Published
- 2009-10
- Volume
- 11
- Issue
- 10
- Pages
- 687-694
- ISSN
- 1098-3600 (ISSN-L)
- 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
- Locations
- Genetics in Medicine (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and rare skin diseases.
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Health Sciences › Medicine › Physiology › 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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