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Clonal chromosomal abnormalities in congenital bile duct dilatation (Caroli's disease)

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Author

  • Luis Antonio Parada
  • Magnus Hallén
  • Inga Hagerstrand
  • Karl-Göran Tranberg
  • Bertil Johansson

Summary, in English

BACKGROUND: Caroli's disease is a rare congenital disorder characterised by cystic dilatation of the intrahepatic bile ducts and an increased risk of cholangiocellular carcinoma. The cause is unknown, but occasional familial clustering suggests that some cases are inherited, in particular when occurring in association with polycystic kidney disease and germline PKD1 gene mutations. To date, no gene responsible for familial isolated Caroli's disease has been identified, and no genetic investigations of liver tissue from patients with Caroli's disease have been reported. PATIENT/METHOD: A liver biopsy specimen from a patient with isolated Caroli's disease, without any signs of cholangiocellular carcinoma, was short term cultured and cytogenetically investigated after G banding with Wright's stain. RESULT: Cytogenetic analysis disclosed the karyotype 45-47,XX,der(3)t(3;8)(p23;q13), +2mar[cp6]/46,XX[18]. CONCLUSIONS: The finding of an unbalanced translocation between chromosomes 3 and 8 suggests that loss of distal 3p and/or gain of 8q is of pathogenetic importance in Caroli's disease. Alternatively, structural rearrangements of genes located in 3p23 and 8q13 may be of the essence. These chromosomal breakpoints may also pinpoint the location of genes involved in inherited forms of Caroli's disease not associated with polycystic kidney disease.

Department/s

Publishing year

1999

Language

English

Pages

780-782

Publication/Series

Gut

Volume

45

Issue

5

Document type

Journal article

Publisher

BMJ Publishing Group

Topic

  • Medical and Health Sciences

Keywords

  • Female
  • Pair 8/ genetics
  • Pair 3/ genetics
  • Human
  • Chromosomes
  • Aged
  • Caroli Disease/ genetics
  • Humans
  • Karyotyping
  • Translocation
  • Genetic

Status

Published

ISBN/ISSN/Other

  • ISSN: 1468-3288