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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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“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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“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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Liaw, D., Marsh, D. J., Li, J., Dahia, P. L. M., Wang, S. I., Zheng, Z., Bose, S., Call, K. M., Tsou, H. C., Peacoke, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-64 · Cited by 2,067
Self-citationSmith's Recognizable Patterns of Human Malformation
Gilbert‐Barness, E. (1998) · Archives of Pediatrics and Adolescent Medicine · doi:10.1001/archpedi.152.2.212 · Cited by 1,976
Smith's recognizable patterns of human malformation
Jones, K. L., Jones, M. C., & Campo, M. D. (1997) · Cited by 1,916
Efficacy of Bilateral Prophylactic Mastectomy in Women with a Family History of Breast Cancer
Hartmann, L. C., Schaid, D. J., Woods, J. E., Crotty, T. P., Myers, J. L., Arnold, P. G., Petty, P. M., Sellers, T. A., Johnson, J. L., McDonnell, S. K., et al. (1999) · New England Journal of Medicine · doi:10.1056/nejm199901143400201 · Cited by 1,428
Mutations in the SMAD4/DPC4 Gene in Juvenile Polyposis
Howe, J. R., Roth, S., Ringold, J. C., Summers, R. W., Järvinen, H., Sistonen, P., Tomlinson, I. P. M., Houlston, R. S., Bevan, S., Mitros, F. A., et al. (1998) · Science · doi:10.1126/science.280.5366.1086 · Cited by 908
Altered PTEN Expression as a Diagnostic Marker for the Earliest Endometrial Precancers
Mutter, G. L. (2000) · Journal of the National Cancer Institute · doi:10.1093/jnci/92.11.924 · Cited by 829
PTEN: One Gene, Many Syndromes
Eng, C. (2003) · Human Mutation · doi:10.1002/humu.10257 · Cited by 787
Self-citationButler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., et al. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2004.024646 · Cited by 778
Self-citationMarsh, D. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.3.507 · Cited by 653
Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis
Howe, J. R., Bair, J. L., Sayed, M. G., Anderson, M. E., Mitros, F. A., Petersen, G. M., Velculescu, V. E., Traverso, G., & Vogelstein, B. (2001) · Nature Genetics · doi:10.1038/88919 · Cited by 630
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Metadata
- 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
- 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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