What are the Prognostic and Therapeutic Implication?
The 46 genes in the panel for detection of targetable mutations included: AKT1, BRAF, FGFR1, GNAS, IDH1, FGFR2, KRAS, NRAS, PIK3CA, MET, RET, EGFR, JAK2, MPL, PDGFRA, PTEN, TP53, FGFR3, FLT3, KIT, ERBB2, ABL1, HNF1A, HRAS, ATM, RB1, CDH1, SMAD4, STK11, ALK, SRC, SMARCB1, VHL, MLH1, CTNNB1, KDR, FBXW7, APC, CSF1R, NPM1, SMO, ERBB4, CDKN2A, NOTCH1, JAK3, and PTPN11
There are significant genetic differences between intra and extrahepatic CCA.
IDH1 and DNA repair gene alterations occurred more frequently in intrahepatic CCA
as well as TP53 (35%), KRAS (24%), ARID1A (20%), IDH1 (18%), MCL1 (16%) and PBRM1 (11%).
extrahepatic group had higher occurrence of ERBB2 genomic alterations
as well as TP53 (45%), KRAS (40%), ERBB2 (25%), SMAD4 (25%), FBXW7 (15%) and CDKN2A (15%)