The NeoTYPE Cholangiocarcinoma Profile analyzes 19 biomarkers through a combination of next-generation sequencing (NGS), FISH, and IHC as listed below. Test orders include summary interpretation of all results to help guide treatment decisions. A microsatellite instability (MSI) NGS result of “indeterminate” will create a reflex to MSI by PCR as long as the tumor percentage is ≥40% and paired normal tissue is available.
- NGS (15 genes + 2 biomarkers): APC, ARID1A, BAP1, BRAF, EGFR, ERBB2, HRAS, IDH1, IDH2, KRAS, MET (c-MET), NRAS, PBRM1, SMAD4, TP53, plus Microsatellite instability (MSI) and Tumor Mutation Burden (TMB).
- FISH (1 biomarker): FGFR2
- IHC (1 biomarker): PD-L1 LDT
The NeoTYPE Cholangiocarcinoma Profile is intended to detect genetic aberrations reported in cholangiocarcinoma to aid in diagnosis and prognosis of the disease.
Cholangiocarcinoma (CCA) is an uncommon biliary tract cancer that typically presents at an advanced disease stage and is characterized by an aggressive disease course and poor clinical outcome. The most commonly mutated genes include KRAS, BRAF, BAP1, and SMAD4, associated with cell signaling pathways (MAPK signaling), cell cycle control and chromatin dynamics. Many potential therapies have been identified, including lapatinib (ERBB2), cetuximab and panitumumab (EGFR). Other potential targets include IDH1/2 and PD-L1.jab
- FFPE tissue: Paraffin block preferred. Please use 10% buffered formalin fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
- Jain, A. et al. Cholangiocarcinoma With FGFR Genetic Aberrations: A Unique Clinical Phenotype. JCO Precision Oncology 2018:2, 1-12.
- Zhou, M., Zhu, Y., Hou, R., Mou, X., & Tan, J. (2019). Identification of candidate genes for the diagnosis and treatment of cholangiocarcinoma using a bioinformatics approach. Oncology Letters, 18, 5459-5467. https://doi.org/10.3892/ol.2019.10904
- Labib, P.L., Goodchild, G. & Pereira, S.P. Molecular Pathogenesis of Cholangiocarcinoma. BMC Cancer 19, 185 (2019). https://doi.org/10.1186/s12885-019-5391-0