Systematic Reviews
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastroenterol. Aug 21, 2020; 26(31): 4718-4728
Published online Aug 21, 2020. doi: 10.3748/wjg.v26.i31.4718
Risk of malignancy in Caroli disease and syndrome: A systematic review
René Fahrner, Sandra GC Dennler, Daniel Inderbitzin
René Fahrner, Daniel Inderbitzin, Department of Surgery, Bürgerspital Solothurn, Solothurn 4500, Switzerland
Sandra GC Dennler, Department of Surgery, University Hospital Dresden, Dresden 01307, Germany
Author contributions: Fahrner R was involved in the conceptualization, data curation, investigation, project administration, writing-original draft; Dennler SGC was involved in the conceptualization, data curation, investigation, writing review and editing; Inderbitzin D was involved in the conceptualization, data curation, investigation, writing review and editing. All authors have read and approve the final manuscript.
Conflict-of-interest statement: There are no conflicts of interest.
PRISMA 2009 Checklist statement: The authors have read the PRISMA 2009 checklist, and the manuscript was prepared and revised accordingly.
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: René Fahrner, MD, Surgeon, Department of Surgery, Bürgerspital Solothurn, Schöngrünstrasse 42, Solothurn 4500, Switzerland. rene.fahrner@spital.so.ch
Received: January 20, 2020
Peer-review started: January 20, 2020
First decision: February 27, 2020
Revised: May 15, 2020
Accepted: August 1, 2020
Article in press: August 1, 2020
Published online: August 21, 2020
Processing time: 213 Days and 19.7 Hours
Abstract
BACKGROUND

Congenital intrahepatic bile duct dilatation without fibrosis is called Caroli disease (CD), and is called Caroli syndrome (CS) when it has fibrotic and cirrhotic liver morphology. The development of intrahepatic carcinoma is described in both conditions, but the reported incidence varies extensively. Potential risk factors for the malignant transformation were not described. Furthermore, conservative or surgical treatment is performed depending on the extent of cystic malformation, hepatic dysfunction and structural hepatic changes, but little is known about which treatment should be offered to patients with CD or CS and cancer.

AIM

To further investigate the malignant transformation in these conditions.

METHODS

A systematic review of the current literature until January 2019 was performed according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses statement. A search using Medline (PubMed) was performed using a combination of Medical Subject Headings terms “caroli disease”, “caroli syndrome”, “tumor”, “malignant”, and “cholangiocarcinoma”. Only human studies published in English were used for this systematic review. The following parameters were extracted from each article: year of publication, type of study, number of patients, incidence of malignant tumor, duration of symptoms, age, sex, diagnostics, identification of tumor, surgical therapy, survival and tumor recurrence.

RESULTS

Twelve retrospective studies reporting the courses of 561 patients (53% females) were included in this systematic review. With a mean age of 41.6 years old (range 23 to 56 years old), patients were younger than other populations undergoing liver surgery. Depending on the size of the study population the incidence of cholangiocarcinoma varied from 2.7% to 37.5% with an overall incidence of 6.6%. There were only few detailed reports about preoperative diagnostic work-up, but a multimodal work-up including ultrasound of the liver, computed tomography, magnetic resonance imaging and endoscopic retrograde cholangiopancreatography was used in most studies. Disease duration was variable with up to several years. Most patients had episodes of cholangitis, sepsis, fever or abdominal pain. Tumor detection was an incidental finding of the surgical specimen in most cases because it is currently often impossible to detect tumor manifestation during preoperative diagnostics. Liver resection or liver transplantation was performed depending on the extent of the biliary pathology and additional alterations of the liver structure or function. No postoperative adjuvant chemotherapy was reported, but chemotherapy was administered in selected cases of tumor recurrence. Overall survival rates after one year were low at 36% and a high recurrence rate of up to 75% during the observation period.

CONCLUSION

Only few retrospective studies reported a low tumor incidence. Despite the high rate of mortality and tumor recurrence, definite surgical treatment should be offered as soon as possible.

Keywords: Malignancy; Caroli disease; Caroli syndrome; Tumor; Cholangiocarcinoma; Review

Core tip: Congenital intrahepatic bile duct dilatation with or without fibrosis is called Caroli syndrome or Caroli disease, respectively. We performed a systematic review of the current literature to investigate the incidence of malignant transformation, risk factors, and surgical treatment options. There were only 12 retrospective cohort studies reporting 561 patients, including 37 patients with malignancy, so an exact preoperative diagnostic work-up, risk factors and preferred surgical treatment were impossible to conclude due to lack of data. Overall survival rates after one year were low (36%), and recurrence rate was high (75%) during the observation period.