Gut Liver.
2022 Jul;16(4):613-624. 10.5009/gnl210174.
Genetic, Clinicopathological, and Radiological Features of Intrahepatic Cholangiocarcinoma with Ductal Plate Malformation Pattern
- Affiliations
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- 1Department of Biomedical Systems Informatics, Yonsei University College of Medicine, Seoul, Korea.
- 2Department of Radiology, Research Institute of Radiological Science, Center for Clinical Imaging Data Science, Yonsei University College of Medicine, Seoul, Korea.
- 3Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.
- 4Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.
- 5Department of Pathology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
- 6Graduate School of Medical Science, Brain Korea 21 Project, Yonsei University College of Medicine, Seoul, Korea.
- KMID: 2531244
- DOI: http://doi.org/10.5009/gnl210174
Abstract
- Background/Aims
Intrahepatic cholangiocarcinoma (iCCA) with a ductal plate malformation (DPM) pattern is a recently recognized rare variant. The genomic profile of iCCA with DPM pattern needs to be elucidated.
Methods
Cases of iCCA with DPM pattern were retrospectively reviewed based on the medical records, pathology slides, and magnetic resonance imaging (MRI) reports collected between 2010 to 2019 at a single center. Massive parallel sequencing was performed for >500 cancerrelated genes.
Results
From a total of 175 iCCAs, five (2.9%) cases of iCCA with DPM pattern were identified. All cases were of the small duct type, and background liver revealed chronic B viral or alcoholic hepatitis. Three iCCAs with DPM pattern harbored MRI features favoring the diagnosis of hepatocellular carcinoma, whereas nonspecific imaging features were observed in two cases. All patients were alive without recurrence during an average follow-up period of 57 months. Sequencing data revealed 64 mutated genes in the five cases, among which FGFR2 and PTPRT were most frequently mutated (three cases each) including an FGFR2-TNC fusion in one case. Mutations in ARID1A and CDKN2A were found in two cases, and mutations in TP53, BAP1, ATM, NF1, and STK11 were observed in one case each. No IDH1, KRAS, or PBRM1 mutations were found.
Conclusions
iCCAs with DPM pattern have different clinico-radio-pathologic and genetic characteristics compared to conventional iCCAs. Moreover, FGFR2 and FGFR2 variants were identified. Altogether, these findings further suggest that iCCA with DPM pattern represents a specific subtype of small duct type iCCA.
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