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Original article
Comprehensive genomic profiling of extrahepatic cholangiocarcinoma reveals a long tail of therapeutic targets
  1. Hwajeong Lee1,
  2. Kai Wang2,
  3. Adrienne Johnson2,
  4. David M Jones1,
  5. Siraj M Ali2,
  6. Julia A Elvin2,
  7. Roman Yelensky2,
  8. Doron Lipson2,
  9. Vincent A Miller2,
  10. Philip J Stephens2,
  11. Milind Javle3,
  12. Jeffrey S Ross1,2
  1. 1Department of Pathology, Albany Medical College, Albany, New York, USA
  2. 2Foundation Medicine, Inc., Cambridge, Massachusetts, USA
  3. 3The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
  1. Correspondence to Dr Hwajeong Lee, Department of Pathology, Albany Medical College, Mail Code 81, 47 New Scotland Avenue, Albany, NY 12208, USA; LeeH5{at}mail.amc.edu

Abstract

Aim We queried whether extrahepatic cholangiocarcinoma featured clinically relevant genomic alterations that could lead to targeted therapy.

Methods Comprehensive genomic profiling by hybridisation capture of up to 315 genes was performed on 99 clinically advanced extrahepatic cholangiocarcinoma.

Results There were 60 male and 39 female patients with a median age of 60.5 years. A total of 400 alterations were identified (mean 4.0; range 0–13) in 84 genes. Eighty-two (83%) of extrahepatic cholangiocarcinoma patients featured at least one clinically relevant genomic alterations including KRAS (43%); ERBB2 (9%), PTEN (7%); ATM and NF1 (6%) and CCND1, FBXW7, GNAS, MDM2 and NRAS (all at 5%). BRAF, BRCA2, CDK4, CDK6, FGFR1, FGFR3, PTCH1, RAF1 and STK11 were each altered in a single patient. No IDH1/2 mutations or FGFR2 gene fusions were identified.

Conclusions Comprehensive genomic profiling of extrahepatic cholangiocarcinoma differs significantly from intrahepatic cholangiocarcinoma and pancreatic adenocarcinoma, and reveals diverse opportunities for the use of targeted therapies.

  • BILIARY
  • ONCOLOGY
  • HISTOPATHOLOGY

https://doi.org/10.1136/jclinpath-2015-203394

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