Clonal chromosomal abnormalities in congenital bile duct dilatation (Caroli's disease)
(1999) In Gut 45(5). p.780-782- 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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/3052295
- author
- Parada, Luis Antonio ; Hallén, Magnus LU ; Hagerstrand, Inga ; Tranberg, Karl-Göran LU and Johansson, Bertil LU
- organization
- publishing date
- 1999
- type
- 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
- 3 pages
- publisher
- BMJ Publishing Group
- external identifiers
-
- scopus:0032739727
- pmid:10517920
- ISSN
- 1468-3288
- DOI
- 10.1136/gut.45.5.780
- 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
- 2016-04-04 09:26:19
- date last changed
- 2022-04-15 23:21:07
@article{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}}, keywords = {{Female; Pair 8/ genetics; Pair 3/ genetics; Human; Chromosomes; Aged; Caroli Disease/ genetics; Humans; Karyotyping; Translocation; Genetic}}, language = {{eng}}, number = {{5}}, pages = {{780--782}}, publisher = {{BMJ Publishing Group}}, series = {{Gut}}, title = {{Clonal chromosomal abnormalities in congenital bile duct dilatation (Caroli's disease)}}, url = {{http://dx.doi.org/10.1136/gut.45.5.780}}, doi = {{10.1136/gut.45.5.780}}, volume = {{45}}, year = {{1999}}, }