ArticleFamilial cancer2021
Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome.
Article in Familial cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Reclassification of an uncertain STK11 germline variant as likely pathogenic: a family study.Familial cancer · 2025Article
- Gastric-type endocervical adenocarcinoma in situ as the presenting feature in a mosaic STK11 pathogenic variant carrier with a Peutz-Jeghers syndrome child.Familial cancer · 2025Article
- Somatic STK11 mosaicism in a Turkish patient with Peutz-Jeghers syndrome.Familial cancer · 2024Article
- Cancer Risk of Peutz-Jeghers Syndrome and Treatment Experience: A Chinese Medical Center.Clinics in colon and rectal surgery · 2023Review
- Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.Familial cancer · 2023Article
- Immunotherapy Mechanism of Esophageal Squamous Cell Carcinoma with the Effect of STK11/AMPK Signaling Pathway.BioMed research international · 2022Article
- Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.The application of clinical genetics · 2021Review
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Authors and funding
4 authors at 3 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
Peutz-Jeghers syndrome (PJS) is a hereditary polyposis syndrome characterized by hamartomatous Peutz-Jeghers polyps in the gastrointestinal tract, mucocutaneous pigmentations, and increased risk for intestinal and extraintestinal cancer. In more than two-third of patients it is possible to detect pathogenic variants in the serine/threonine kinase 11 (STK11) gene, but so far is knowledge about genetic causes in the remaining part of patients limited. Reports of STK11 mosaicism are rare but may be an explanation in some patients without initial findings of pathogenic variants in STK11. We report two Danish patients with STK11 mosaicism detected in blood when using Next-Generation Sequencing. This is only the sixth and seventh patient reported in the literature, and we compare phenotypes of the reported cases. The results indicate that STK11 mosaicism is more frequent than anticipated and highlight that mosaicism should be considered in patients with clinical suspicion of PJS or patients fulfilling the diagnostic criteria.
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