The DOI matches its Crossref record; 74 of the 74 references it cites were found in a registry or an index.
Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria
Open accessAbstract
BACKGROUND: PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic criteria for Cowden syndrome, the principal PTEN-related disorder, were first established in 1996 before the identification of the PTEN gene and the ability to molecularly confirm a clinical diagnosis. These consortium criteria were based on clinical experience and case reports in the existing literature, with their inherent selection biases. Although it was initially reported that approximately 80% of patients with Cowden syndrome had an identifiable germline PTEN mutation, more recent work has shown these diagnostic criteria to be far less specific. In addition, increasing evidence has documented the association of a broader spectrum of clinical features with PTEN mutations. Our goal was to develop revised, evidence-based diagnostic criteria and to include features of the broader spectrum of PTEN-related clinical syndromes. METHODS: We performed a systematic search and review of the medical literature related to clinical features reported in individuals with a PTEN mutation and/or a related clinical diagnosis. RESULTS: We found no sufficient evidence to support inclusion of benign breast disease, uterine fibroids, or genitourinary malformations as diagnostic criteria. There was evidence to include autism spectrum disorders, colon cancer, esophageal glycogenic acanthosis, penile macules, renal cell carcinoma, testicular lipomatosis, and vascular anomalies. CONCLUSIONS: We propose revised, evidence-based criteria covering the spectrum of PTEN-related clinical disorders. Additional research on clinical features associated with PTEN mutations is warranted.
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Cites
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Portrait of the PI3K/AKT pathway in colorectal cancer
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Metadata
- Authors
- Pilarski, R., Burt, R., Kohlman, W., Pho, L., Shannon, K. M., & Swisher, E.
- Venue
- JNCI Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 2013-10-17
- Volume
- 105
- Issue
- 21
- Pages
- 1607-1616
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2106893670
- Cited by
- 654
- References
- 74
- FWCI
- 2.79
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Pilarski, R., Burt, R., Kohlman, W., Pho, L., Shannon, K. M., & Swisher, E. (2013). Cowden Syndrome and the PTEN Hamartoma Tumor Syndrome: Systematic Review and Revised Diagnostic Criteria. JNCI Journal of the National Cancer Institute. https://doi.org/10.1093/jnci/djt277
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