Cholangiocellular carcinoma associated with segmental Caroli's disease

Totkas, S.; Hohenberger, Peter

doi:10.1053/ejso.1999.0936

Cited by 35 publications

(14 citation statements)

References 9 publications

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“…There was only 1 patient (13) in whom the malignancy was diagnosed in the extrahepatic bile ducts. Totkas and Hohenberger (15) described a male patient who presented with cholangiocarcinoma as an incidental finding during screening ultrasound for cardiac arrhythmia. The disease was nonmetastatic, and the patient was found to have left-sided Caroli disease.…”

Section: Resultsmentioning

confidence: 99%

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Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease

Srinath¹,

Shneider²

2012

J. pediatr. gastroenterol. nutr.

117

100

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Objectives The published natural history of congenital hepatic fibrosis (CHF) was examined to inform clinical decision making in autosomal recessive polycystic kidney disease (ARPKD). Methods A systematic literature search of the data on CHF, ARPKD, Caroli disease, Caroli syndrome, and type V choledochal cyst was performed to extract data related to portal hypertension, infection, malignancy, mortality, and transplantation. Results Information related to 1230 patients with CHF was extracted from 155 articles. Median and mean age at diagnosis were 2 and 11.2 years, respectively. Median and mean time followed after diagnosis were 5.0 and 7.5 years, respectively (range 0–38 years). Sequelae of portal hypertension (n = 409), cholangitis (n = 152), and malignancy (n = 21) were noted. The nature of the portal hypertension was similar to that in other pediatric conditions (164 with varices, 74 bleeding varices, 81 underwent portosystemic shunting). Documented cholangitis was fatal in 3 of 23 children who were infected after renal transplantation. Twenty-one patients developed hepatobiliary cancer, with the majority having cholangiocarcinoma (n = 19). Cholangiocarcinoma (CCA) was predominant in individuals older than 40 years with either Caroli syndrome or isolated CHF, not ARPKD (median and mean age at CCA diagnosis were 70.3 and 60.1 years, respectively; range 33–75 years). There was a relative paucity of data on combined liver-kidney transplantation. Conclusions Clinical decision making in ARPKD should reflect an understanding of the potential issues emanating from CHF. Accepted pediatric specific approaches to portal hypertension are warranted but must take into consideration the stage of renal insufficiency and potential plans for renal transplantation. Cholangitis is a major issue and necessitates anticipatory guidance and awareness. CCA, although a dreaded complication, does not appear to be a major issue during childhood. The indications for liver and combined liver-kidney transplantation are controversial and warrant further analysis.

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Section: Resultsmentioning

confidence: 99%

“…As a corollary, one must consider all of the individuals with CHF to be at risk for cholangitis. The majority of the other cases of cholangiocarcinoma occurred in Caroli disease (15,16,44,45) and not in classical ARPKD (46). Most were incidental findings at the time of liver lobe resection.…”

Section: Discussionmentioning

confidence: 98%

Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease

Srinath¹,

Shneider²

2012

J. pediatr. gastroenterol. nutr.

117

100

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“…When progressive, it can cause recurrent cholangitis, jaundice, the accumulation of intrahepatic stones, portal hypertension, liver failure, and even cholangiocarcinoma [4], [21]. The pathogenesis of Caroli disease appears to be related to dilatations and malformation of a ductal plate, which are either diffuse or confined to only one part of the liver [22].…”

Section: Discussionmentioning

confidence: 99%

Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease

et al. 2014

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BackgroundMutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established.MethodsWhole exome sequencing (WES) was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin.ResultsA combination of WES and Sanger sequencing revealed the genetic defect to be a novel compound heterozygous genotype in PKHD1, including the missense mutation c.2507 T>C, predicted to cause a valine to alanine substitution at codon 836 (c.2507T>C, p.Val836Ala), and the nonsense mutation c.2341C>T, which is predicted to result in an arginine to stop codon at codon 781 (c.2341C>T, p.Arg781*). This compound heterozygous genotype co-segregates with the Caroli disease-affected pedigree members, but is absent in 200 normal chromosomes.ConclusionsOur findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.

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“…Though we performed auxiliary partial orthotopic liver transplantation in 1 case of congenital biliary dilatation (case 5), total removal of the native liver would be ideal from the point of view of the malignant potential; strategies for small-for-size grafts and approaches to palliate donor shortage have thus recently been published [16,50,51]. Though the frequency is very low, the occurrence of intrahepatic cholangiocarcinoma was reported even in patients with Caroli’s disease [52,53,54]. To our knowledge, there are no previous reports on carcinoma originating in endoscopic nasobiliary drainage of patients with Caroli’s disease.…”

Section: Discussionmentioning

confidence: 99%

Liver Transplantation for Congenital Biliary Dilatation: A Single-Center Experience

et al. 2010

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Background: Congenital biliary dilatation is a rare disease. Although the possibility of refractory cholangitis and/or the frequency of malignant tumors legitimize hepatobiliary surgery, repeated cholangitis and biliary obstruction result in secondary liver cirrhosis even after polysurgery. There are no definitive guidelines on liver transplantation for congenital biliary dilatation. Patients: A total of 1,101 liver transplantation recipients were enrolled in this study. Eleven patients with congenital biliary dilatation including 5 patients with Caroli’s disease were retrospectively analyzed in detail. Results: Nine of 11 patients underwent initial operations before liver transplantation while 2 patients with Caroli’s disease received liver transplantation as initial surgery, with good outcomes. All patients had intractable symptoms caused by liver cirrhosis, and growth delay was considerable in patients aged <20 years. Histopathological analysis of the native liver revealed hepatic fibrosis (≧F2). One patient with ABO incompatibility died. One patient with Caroli’s disease accompanied with intrahepatic carcinoma survives 11.8 years after liver transplantation without any recurrences. Conclusions: Patients with congenital biliary dilatation with refractory symptoms and complications secondary to liver failure are appropriate candidates for liver transplantation. We suggest that liver transplantation is an effective therapeutic option for patients with congenital biliary dilatation with due consideration to many accompanying factors, such as clinical course, growth delay, image findings and histopathological analysis.

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Cholangiocellular carcinoma associated with segmental Caroli's disease

Cited by 35 publications

References 9 publications

Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease

Congenital Hepatic Fibrosis and Autosomal Recessive Polycystic Kidney Disease

Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease

Liver Transplantation for Congenital Biliary Dilatation: A Single-Center Experience

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