De novo somatic mutations and KRAS amplification are associated with cholangiocarcinoma in a patient with a history of choledochal cyst
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In brief
In brief
Retrospective study of 48 pediatric choledochal cyst patients found one case of cholangiocarcinoma developing within two years post-resection. Molecular analysis revealed de novo somatic mutations in TP53 and RBM10, plus KRAS amplification in the malignant tissue, underscoring the need for lifelong surveillance despite surgical resection.
Written by the GCMD Library team from the article.
Abstract
Background/Purpose
Choledochal cysts are congenital dilations of the bile ducts, and are associated with an increased risk of malignant transformation. The purpose of this study is to report the outcomes of a large series of patients with choledochal cysts and to highlight our analysis of one patient who developed malignancy after cyst resection.
Methods
We conducted a retrospective review of patients <18 years of age with a choledochal cyst who underwent surgical resection between 1995 and 2018. Molecular testing of resected choledochal cyst specimens using the UCSF500 gene panel was performed on three patients including a 3-month-old boy and a 7-year-old girl who have remained cancer-free, and a 16-year-old girl who subsequently developed cholangiocarcinoma less than two years after resection.
Results
One patient of the 48 included in our study developed cholangiocarcinoma after choledochal cyst resection. We observed de novo somatic mutations in TP53 and RBM10, and KRAS amplification in this patient's tumor.
Conclusions
In our series, the rate of malignancy after choledochal cyst resection was low. One patient developed de novo mutations in the remnant bile ducts after cyst resection. While it is a rare occurrence, the risk of malignancy following cyst resection supports the need for lifelong surveillance.
Level of evidence
IV