Choledochal cysts: Similarities and differences between Asian and Western countries

Abstract

Choledochal cysts (CCs) are rare bile duct dilatations, intra-and/or extrahepatic, and have higher prevalence in the Asian population compared to Western populations. Most of the current literature on CC disease originates from Asia where these entities are most prevalent. They are thought to arise from an anomalous pancreaticobiliary junction, which are congenital anomalies between pancreatic and bile ducts. Some similarities in presentation between Eastern and Western patients exist such as female predominance, however, contemporary studies suggest that Asian patients may be more symptomatic on presentation. Even though CC disease presents with an increased malignant risk reported to be more than 10% after the second decade of life in Asian patients, this risk may be overstated in Western populations. Despite this difference in cancer risk, management guidelines for all patients with CC are based predominantly on observations reported from Asia where it is recommended that all CCs should be excised out of concern for the presence or development of biliary tract cancer.

Choledochal Cyst: A Retrospective Study of 30 Cases From Nepal

“…In the Indian series (n=132), it was observed in 28% of patients [9]. Similarly, in the Western (n=394) and the Eastern series, it was detected in 12% and 90% of patients respectively [10][11][12]. In our cohort, it was observed in only 16% of patients, which is in line with other data from different countries.…”

Choledochal Cysts Resected during Childhood Show No Mutations of KRAS and BRAF as Early Markers of Malignancy in Cholangiocytes

“…1,10,11 Patients with pancreaticobiliary maljunction have been shown to be at even higher risk due to pancreaticobiliary reflux and biliary stasis with increased mutagenicity of the bile acids. 1,2 Pathological findings suggest a multistep process with certain mutations occurring at particular points in time during carcinogenesis. 1 As lesions advance over time, genetic and molecular abnormalities accumulate, driving the initially normal biliary epithelium to transform into malignant cells.…”

“…The results of Shimotake et al demonstrate that malignant changes can also affect pediatric patients and occur as early as at the age of four in Asian patients, whose risk to develop biliary tract carcinoma appears to be higher than in patients from Western countries, both before and after cyst excision. 2,[17][18][19][20] Based on the reported mutations in KRAS in Japanese choledochal cyst patients and based on the increased mutation rate of BRAF in the Western population, we chose to test for KRAS and BRAF as markers of early carcinogenetic stages in our European cohort of pediatric patients with CDC.…”

“…1 While the incidence in Asian populations is estimated at 1 in 1,000 births, choledochal cysts (CDC) are much less frequent in Western countries with an estimated range of 1 in 100,000 to 150,000 births. 2 Typical symptoms at presentation include abdominal pain, palpable abdominal mass or jaundice, but incidental findings in asymptomatic patients are not uncommon. 3 CDC can lead to a variety of complications such as cyst rupture, choledocholithiasis, pancreatitis, cholangitis, or biliary cirrhosis.…”

“…1 The risk to develop biliary tract malignancy for patients with CDC ranges from 2.5 to 17.5% and increases with age but decreases considerably after complete resection of CDC. 2,5 Surgical excision therefore, is recommended once the diagnosis of CDC has been confirmed to reduce the risk of malignant degeneration. 6,7 Due to the higher incidence in Asian populations, most of the literature concerning malignant degeneration in CDC stems from Asian countries while equivalent data from Western populations is limited.…”