Diseases /
Intrahepatic Cholangiocarcinoma
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Associated Genetic Biomarkers
Overview
NCI Definition: A carcinoma that arises from the intrahepatic bile duct epithelium in any site of the intrahepatic biliary tree. Grossly, the malignant lesions are solid, nodular, and grayish. Morphologically, the vast majority of cases are adenocarcinomas. Signs and symptoms include malaise, weight loss, right upper quadrant abdominal pain, and night sweats. Early detection is difficult and the prognosis is generally poor. [1]
Intrahepatic cholangiocarcinomas most frequently harbor alterations in IDH1, TP53, BAP1, FGFR2, and ARID1A [2].
IDH1 Mutation, IDH1 Codon 132 Missense, IDH1 R132C, TP53 Mutation, and FGFR2 Fusion are the most common alterations in intrahepatic cholangiocarcinoma [2].
Clinical Trials
Significant Genes in Intrahepatic Cholangiocarcinoma
Disease Details
References
1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].
2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.