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Genetic, Clinicopathological, and Radiological Features of Intrahepatic Cholangiocarcinoma with Ductal Plate Malformation Pattern

Authors
 Taek Chung  ;  Hyungjin Rhee  ;  Hyo Sup Shim  ;  Jeong Eun Yoo  ;  Gi Hong Choi  ;  Haeryoung Kim  ;  Young Nyun Park 
Citation
 GUT AND LIVER, Vol.16(4) : 613-624, 2022-07 
Journal Title
GUT AND LIVER
ISSN
 1976-2283 
Issue Date
2022-07
MeSH
Bile Duct Neoplasms* / diagnostic imaging ; Bile Duct Neoplasms* / genetics ; Bile Ducts, Intrahepatic / diagnostic imaging ; Cholangiocarcinoma* / diagnostic imaging ; Cholangiocarcinoma* / genetics ; Humans ; Liver Neoplasms* / diagnostic imaging ; Liver Neoplasms* / genetics ; Liver Neoplasms* / pathology ; Retrospective Studies
Keywords
Cholangiocarcinoma ; High-throughput nucleotide sequencing ; Immunohistochemistry ; Magnetic resonance imaging
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 cancer-related 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 FGFR and PTPRT were most frequently mutated (three cases each) including an FGFR-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, FGFR and ARID1A variants were identified. Altogether, these findings further suggest that iCCA with DPM pattern represents a specific subtype of small duct type iCCA.
Files in This Item:
T202202868.pdf Download
DOI
10.5009/gnl210174
Appears in Collections:
1. College of Medicine (의과대학) > BioMedical Science Institute (의생명과학부) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Radiology (영상의학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Park, Young Nyun(박영년) ORCID logo https://orcid.org/0000-0003-0357-7967
Shim, Hyo Sup(심효섭) ORCID logo https://orcid.org/0000-0002-5718-3624
Yoo, Jeong Eun(유정은) ORCID logo https://orcid.org/0000-0001-9990-279X
Rhee, Hyungjin(이형진) ORCID logo https://orcid.org/0000-0001-7759-4458
Chung, Taek(정택) ORCID logo https://orcid.org/0000-0001-7567-0680
Choi, Gi Hong(최기홍) ORCID logo https://orcid.org/0000-0002-1593-3773
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/189521
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