Biliary tract cancer (BTC) is a heterogeneous disease of poor prognosis and variable pathogenesis, prompting for the identification of tumor features that may aid in the design of personalized treatments. Herein, we examined genotype and angiogenesis-related features in BTC.
We applied genotyping (Sanger, qPCR, 101-gene panel NGS) and mRNA relative quantification methods in 84 FFPE BTC (55 gallbladder [GBC], 14 intrahepatic [ICC], 15 extrahepatic [ECC] carcinomas), along with b-catenin immunohistochemistry (IHC).
We identified 541 mutations in 68 (81%) tumors. Six GBC had 17 – 160 mutations, multiple per gene (hypermutated [hm]); non-hm tumors had
We confirmed the presence of different genotypes among GBC, ICC and ECC. Novel findings are the coexistence of PI3K and WNT pathway gene alterations in BTC, their association with angiogenesis, and the hmGBC subtype with HRR gene mutations, which may be considered for new treatment options in this difficult to treat disease.
Clinical trial identification
Legal entity responsible for the study
Hellenic Cooperative Oncology Group (HeCOG)
G. Fountzilas: Honoraria: AstraZeneca. Consulting or advisory role: Pfizer, Sanofi, Roche Stock. Ownership: Ariad (immediate family member). All other authors have declared no conflicts of interest.