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

Parada, Luis Antonio; Hallén, Magnus LU ; Hagerstrand, Inga; Tranberg, Karl-Göran LU and Johansson, Bertil LU (1999) In Gut 45(5). p.2-780
Abstract
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... (More)
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. (Less)
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author
organization
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Contribution to journal
publication status
published
subject
keywords
Female, Pair 8/ genetics, Pair 3/ genetics, Human, Chromosomes, Aged, Caroli Disease/ genetics, Humans, Karyotyping, Translocation, Genetic
in
Gut
volume
45
issue
5
pages
2 - 780
publisher
BMJ Publishing Group
ISSN
1468-3288
language
English
LU publication?
yes
id
d4a0a444-e883-4f98-b177-38a61d3436ea (old id 3052295)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/10517920
http://gut.bmj.com/content/45/5/780.long
date added to LUP
2013-05-07 14:20:09
date last changed
2016-04-16 06:42:23
@misc{d4a0a444-e883-4f98-b177-38a61d3436ea,
  abstract     = {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.},
  author       = {Parada, Luis Antonio and Hallén, Magnus and Hagerstrand, Inga and Tranberg, Karl-Göran and Johansson, Bertil},
  issn         = {1468-3288},
  keyword      = {Female,Pair 8/ genetics,Pair 3/ genetics,Human,Chromosomes,Aged,Caroli Disease/ genetics,Humans,Karyotyping,Translocation,Genetic},
  language     = {eng},
  number       = {5},
  pages        = {2--780},
  publisher    = {ARRAY(0x83a03b0)},
  series       = {Gut},
  title        = {Clonal chromosomal abnormalities in congenital bile duct dilatation (Caroli's disease)},
  volume       = {45},
  year         = {1999},
}