Abstract
Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. Ultrasound revealed a nodule in the liver, and biopsy showed intrahepatic adenocarcinoma. Germline testing was positive for two mutations: c.1100delC and c.1227_1228dupGG on the CHEK2 gene and the MUTYH gene, respectively. The patient was started on chemotherapy and tolerated it well. We aimed to demonstrate an association between CHEK2 and MUTYH mutations with CCA and highlight the importance of genetic testing for at-risk patients.
Highlights
Cholangiocarcinoma (CCA) is a leading cause of adenocarcinoma that arises in the glandular tissue of bile duct cells [1]
We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests
We aimed to demonstrate an association between CHEK2 and MUTYH mutations with CCA and highlight the importance of genetic testing for at-risk patients
Summary
Cholangiocarcinoma (CCA) is a leading cause of adenocarcinoma that arises in the glandular tissue of bile duct cells [1]. Less established risk factors of CCA include ulcerative colitis, cirrhosis, hepatitis B/C virus, and germline mutations [3,4]. Germline mutations are primarily sporatic, occur randomly, and are inherited in a dominant pattern [5,6]. These mutations, do not always occur with equal probability, and a recessive inheritance pattern can occur [5,6]. Very few cases have linked CCA with CHEK2 and MUTYH mutations individually with no published cases of CCA with both mutations [5,6] In this case report, we will explore the association of both CHEK2 and MUTYH mutations in a patient with CCA
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