Survival, surveillance, and genetics in patients with Peutz-Jeghers syndrome: A nationwide study

Anne Marie Jelsig, Thomas van Overeem Hansen, Lene Bjerring Gede, Niels Qvist, Lise-Lotte Christensen, Charlotte Kvist Lautrup, Jane Hübertz Frederiksen, Lone Sunde, Lilian Bomme Ousager, Ken Ljungmann, Birgitte Bertelsen, John Gásdal Karstensen

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Peutz-Jeghers syndrome (PJS) is an autosomal dominant hereditary polyposis syndrome causing increased morbidity and mortality due to complications of polyposis and the development of cancer. STK11 is the only gene known to be associated with PJS, although in 10%-15% of patients fulfilling the diagnostic criteria no pathogenic variant (PV) is identified. The primary aim of this study was to identify the genetic etiology in all known PJS patients in Denmark and to estimate the risk of cancer, effect of surveillance and overall survival. We identified 56 patients (2-83 years old) with PJS. The detection rate of PVs was 96%, including three cases of mosaicism (6%). In two patients a variant was not detected. At the age of 40 years, the probabilities of cancer and death were 21% and 16%, respectively; at the age of 70 years these probabilities were 71% and 69%. Most cases of cancer (92%) were identified between the scheduled examinations in the surveillance program. These observations emphasize that PJS should be regarded as a general cancer predisposition syndrome, where improvement of clinical care is needed.

Original languageEnglish
JournalClinical Genetics
Issue number1
Pages (from-to)81-89
Publication statusPublished - Jul 2023


  • Peutz–Jeghers syndrome
  • STK11
  • endoscopy
  • genetics
  • hereditary
  • polyp
  • polyposis
  • Humans
  • Middle Aged
  • Child, Preschool
  • Genotype
  • Young Adult
  • Peutz-Jeghers Syndrome/complications
  • Adolescent
  • Aged, 80 and over
  • Adult
  • Colorectal Neoplasms
  • Mosaicism
  • Aged
  • Child
  • Protein Serine-Threonine Kinases/genetics


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