TY - JOUR
T1 - Crossing borders: A systematic review with quantitative analysis of genetic mutations of carcinomas of the biliary tract
AU - Roos, E.
AU - Soer, E. C.
AU - Klompmaker, S.
AU - Meijer, L. L.
AU - Besselink, M. G.
AU - Giovannetti, E.
AU - Heger, M.
AU - Kazemier, G.
AU - Klümpen, H. J.
AU - Takkenberg, R. B.
AU - Wilmink, H.
AU - Würdinger, T.
AU - Dijk, F.
AU - van Gulik, T. M.
AU - Verheij, J.
AU - van de Vijver, M. J.
N1 - Copyright © 2019. Published by Elsevier B.V.
PY - 2019/8/1
Y1 - 2019/8/1
N2 - Biliary tract carcinoma (BTC)comprises gallbladder and intra-/extrahepatic cholangiocarcinoma (GBC, ICC, EHC), which are currently classified by anatomical origin. Better understanding of the mutational profile of BTCs might refine classification and improve treatment. We performed a systematic review of studies reporting on mutational profiling of BTC. We included articles reporting on whole-exome/whole-genome-sequencing (WES/WGS)and targeted sequencing (TS)of BTC, published between 2000-2017. Pooled mutation proportions were calculated, stratified by anatomical region and sequencing technique. A total of 25 studies with 1806 patients were included. Overall, TP53 was the most commonly mutated gene in BTC. GBC was associated with mutations in PFKFB3, PLXN2 and PGAP1. Mutations in IDH1, IDH2 and FGFR fusions almost exclusively occurred in ICC patients. Mutations in APC, GNAS and TGFBR2 occurred exclusively in EHC patients. In conclusion, subtypes of BTCs exhibit minor differences in mutational profile, which is likely influenced by the cell of origin.
AB - Biliary tract carcinoma (BTC)comprises gallbladder and intra-/extrahepatic cholangiocarcinoma (GBC, ICC, EHC), which are currently classified by anatomical origin. Better understanding of the mutational profile of BTCs might refine classification and improve treatment. We performed a systematic review of studies reporting on mutational profiling of BTC. We included articles reporting on whole-exome/whole-genome-sequencing (WES/WGS)and targeted sequencing (TS)of BTC, published between 2000-2017. Pooled mutation proportions were calculated, stratified by anatomical region and sequencing technique. A total of 25 studies with 1806 patients were included. Overall, TP53 was the most commonly mutated gene in BTC. GBC was associated with mutations in PFKFB3, PLXN2 and PGAP1. Mutations in IDH1, IDH2 and FGFR fusions almost exclusively occurred in ICC patients. Mutations in APC, GNAS and TGFBR2 occurred exclusively in EHC patients. In conclusion, subtypes of BTCs exhibit minor differences in mutational profile, which is likely influenced by the cell of origin.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=85066280436&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/31158800
U2 - https://doi.org/10.1016/j.critrevonc.2019.05.011
DO - https://doi.org/10.1016/j.critrevonc.2019.05.011
M3 - Review article
C2 - 31158800
SN - 1040-8428
VL - 140
SP - 8
EP - 16
JO - Critical Reviews in Oncology/Hematology
JF - Critical Reviews in Oncology/Hematology
ER -