Forskning
Udskriv Udskriv
Switch language
Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Two cases of somatic STK11 mosaicism in Danish patients with Peutz-Jeghers syndrome

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Selection criteria for assembling a pediatric cancer predisposition syndrome gene panel

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Risk of multiple colorectal cancer development depends on age and subgroup in individuals with hereditary predisposition

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Unsolicited information letters to increase awareness of Lynch syndrome and familial colorectal cancer: reactions and attitudes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Expanding the genotype-phenotype spectrum in hereditary colorectal cancer by gene panel testing

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

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.

OriginalsprogEngelsk
TidsskriftFamilial Cancer
Vol/bind20
Udgave nummer1
Sider (fra-til)55-59
Antal sider5
ISSN1389-9600
DOI
StatusUdgivet - jan. 2021

ID: 60005157