Disease pattern in Danish patients with Peutz-Jeghers syndrome.

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DOI

  • A M Jelsig, Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark. anne.marie.jelsig@rsyd.dk., Institute of Clinical Research, University of Southern Denmark, Winsløwparken 19, 5000, Odense C, Denmark.
  • ,
  • N Qvist, Odense University Hospital, Department of ENT Head & Neck Surgery , Sdr. Boulevard 29 , Odense, Denmark, 5000 , +45 2252 3083 ; jes_mathiesen@yahoo.dk.
  • ,
  • L Sunde
  • K Brusgaard, Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark., Institute of Clinical Research, University of Southern Denmark, Winsløwparken 19, 5000, Odense C, Denmark.
  • ,
  • Tvo Hansen, Center for Genomic Medicine, Rigshospitalet, University Hospital of Copenhagen, Blegdamsvej 9, 2100, Copenhagen, Denmark.
  • ,
  • F P Wikman
  • C B Nielsen, Department of Surgery, Hvidovre Hospital, Kettegårds Alle 30, 2650, Hvidovre, Denmark.
  • ,
  • I K Nielsen, Department of Clinical Genetics, Aalborg University Hospital, Ladegaardsgade 5, 9000, Aalborg, Denmark.
  • ,
  • A M Gerdes, Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, Blegdamsvej 9, 2100, Copenhagen, Denmark.
  • ,
  • A Bojesen
  • L B Ousager, Department of Clinical Genetics, Odense University Hospital, Sdr. Boulevard 29, 5000, Odense, Denmark., Institute of Clinical Research, University of Southern Denmark, Winsløwparken 19, 5000, Odense C, Denmark.

PURPOSE: In 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.

METHODS: Based 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.

RESULTS: We 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.

CONCLUSION: This 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.

OriginalsprogEngelsk
TidsskriftInternational Journal of Colorectal Disease
Vol/bind31
Nummer5
Sider (fra-til)997-1004
Antal sider8
ISSN0179-1958
DOI
StatusUdgivet - maj 2016

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