ArticleInternational journal of colorectal disease2016
Disease pattern in Danish patients with Peutz-Jeghers syndrome.
Article in International journal of colorectal disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 18 citations in OpenAlex.
- Natural History of Rare Tumor Risk Syndromes: A Scoping Review to Inform Cost-Effectiveness Models.Journal of health economics and outcomes research · 2026Article
- The clinicopathological features of breast cancer in Peutz-Jeghers syndrome: results from an international survey.Familial cancer · 2025Article
- Progress report: Peutz-Jeghers syndrome.Familial cancer · 2024Review
- Exploring the Multifactorial Landscape of Penile Cancer: A Comprehensive Analysis of Risk Factors.Diagnostics (Basel, Switzerland) · 2024Review
- Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.The Turkish journal of gastroenterology : the official journal of Turkish Society of Gastroenterology · 2024Article
- Cancer risk and mortality in patients with solitary juvenile polyps-A nationwide cohort study with matched controls.United European gastroenterology journal · 2023Article
- Cancer risk in patients with Peutz-Jeghers syndrome in Korea: a retrospective multi-center study.The Korean journal of internal medicine · 2023Article
- A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome.BMC gastroenterology · 2022Article
- The Management of Peutz-Jeghers Syndrome: European Hereditary Tumour Group (EHTG) Guideline.Journal of clinical medicine · 2021Review
- Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.Familial cancer · 2021Article
- Hereditary Polyposis Syndromes.Current treatment options in gastroenterology · 2019Review
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Authors and funding
11 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeIn this paper, we aimed to collect genetic and medical information on all Danish patients with Peutz-Jeghers syndrome (PJS), in order to contribute to the knowledge of phenotype and genotype. Peutz-Jeghers syndrome is a hereditary syndrome characterized by multiple hamartomatous polyps in the GI tract, mucocutaneous pigmentations, and an increased risk of cancer in the GI tract and at extraintestinal sites. Over 90 % of patients harbour a pathogenic mutation in STK11.
methodsBased on the Danish Pathology Data Bank, the Danish National Patient Register, as well as information from relevant departments at Danish hospitals, we identified patients and collected clinical and genetic information.
resultsWe identified 43 patients of which 14 were deceased. The prevalence was estimated to be ∼1 in 195,000 individuals. The median age at first symptom was 27.5 with invagination of the small bowel as the most frequent presenting symptom. We noted 18 occurrences of cancer at various anatomical sites, including a case of thyroid cancer and penile cancer. Eight of the deceased patients had died of cancer. Eighteen different mutations in STK11 had been detected in 28 patients.
conclusionThis is the first comprehensive study of patients with Peutz-Jeghers syndrome in the Danish population identified from nationwide registers and databases. We have demonstrated that the expressivity of Peutz-Jeghers syndrome varies greatly among the patients, even within the same families, underlining the great phenotypic spectrum. Patients with PJS should be offered surveillance from childhood in order to prevent morbidity and reduce mortality.
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