For Cholangiocarcinoma, Biomarkers Matter

"While having a cancer diagnosis and trying to figure out treatment options can be very overwhelming, cholangiocarcinoma is one of the cancers that has the highest chance of having at least one molecular abnormality that we have a really effective drug to target. So, by getting your tumor tested, you have a real chance of getting treatment that is tailored specifically for you.”

Nilofer Azad
Sidney Kimmel Comprehensive Cancer Center
John Hopkins University

Biomarker testing can open the door to additional, personalized treatment options, including clinical trials.

Why Order Biomarker Testing for CCA

With the discovery of advanced therapies and a better understanding of the genomic and molecular drivers of cancer, the clinical utility of biomarker testing—particularly for your patients with cholangiocarcinoma and other rare cancers—cannot be understated. Indeed, a patient’s biomarkers may be relevant throughout the continuum of care.

Patients with cholangiocarcinoma have a dismal prognosis and few treatment options; however, broad sequencing efforts have shown that more than 50% of patients with cholangiocarcinoma have at least one actionable biomarker.

Knowing which biomarkers are driving a patient’s tumor could open the door to personalized treatment options, including access to clinical trials that may give patients the chance to live well and longer. Learn more.

Actionable signatures include:

  • IDH1 mutations
  • *FGFR fusions and mutations
  • *NTRK fusions
  • HER2 amplification and mutations
  • BRAF mutations
  • PIK3CA mutations
  • RET mutations
  • **Microsatellite instability
  • **PD-L1
  • **TMB-high
* May predict response to FDA-approved targeted therapies.
** May predict response to immunotherapy.  About 3% of CCA patients have microsatellite instability and have had positive long-term results with checkpoint inhibitors.

Identification of these signatures in cholangiocarcinoma has stimulated both pharmaceutical and scientific interest in this disease.  There are now several hundred trials on in which CCA patients are eligible to participate.

That’s why biomarkers matter!


"Thank goodness for research! Biomarker testing, also known as molecular profiling, has literally been a life-saver for me.  Identifying my mutations opened up clinical trial treatment options.  I am currently enrolled in a clinical trial and it has given me hope and life!"

Bekki Slater
Cholangiocarcinoma Patient

How and When to Order Biomarker Testing for CCA Patients

Timely biomarker testing of patients with CCA is crucial. Testing soon after the diagnosis of locally advanced or metastatic disease gives patients the opportunity to benefit from the results.

The Cholangiocarcinoma Foundation urges early, comprehensive biomarker testing for all patients with cholangiocarcinoma. Oftentimes, tissue from the diagnostic biopsy can be used for biomarker testing, alleviating the need for a second procedure. Anticipate the need for molecular profiling by using a core needle instead of fine needle aspirate, so sufficient tissue can be obtained during the biopsy.

For some patients, repeat profiling upon recurrence or spread may yield new actionable biomarkers. Consider re-testing in these cases.


Insurance coverage for biomarker testing

Recognizing the increasing value of biomarker testing in a variety of cancers, insurance companies are more routinely covering this testing, making it more accessible for your patients.

Learn more about testing options

Perthera has partnered with the Cholangiocarcinoma Foundation to help guide you and your patient through biomarker testing.

Perthera: Helping patients facilitate molecular profiling

Perthera is a company that facilitates the molecular profiling process.  Perthera will help you and your doctor get your tumor tissue sample to a participating lab. Once the molecular profiling is complete, Perthera will gather the lab information and provide you and your treating physician with a comprehensive and understandable guide to your tumor.  Perthera’s report will provide you with possible options for treatments and clinical trials.

Molecular Profiling Process:

  • Discuss molecular profiling with your physician
  • Complete Perthera Form below
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  • Perthera will facilitate biopsy and delivery of tumor sample to participating labs.
  • Perthera will analyze results and provide a Perthera Report.Report includes:
    • A comprehensive analysis of your cancer using molecular data
    • Possible treatment options that match your cancers genetic profile, including specialists, clinical trials and other available treatments.
  • Discuss treatment options provided by Perthera with your physician.

About Cholangiocarcinoma (CCA) & Treatment

Cholangiocarcinoma is a rare and aggressive cancer of the bile duct with a median survival of one year.

CCA has two anatomic subtypes:

  • Intrahepatic cholangiocarcinoma (ICC/iCCA) is the second most common primary liver cancer. As an adenocarcinoma, it is hard to distinguish from metastatic disease from other origins. In fact, ICC is the most common cause of adenocarcinoma of unknown primary.
  • Extrahepatic cholangiocarcinoma (ECC) includes:
    • Perihilar (Hilar) cholangiocarcinoma, also called a Klatskin tumor, the most common type of cholangiocarcinoma, and
    • Distal cholangiocarcinoma, which occurs outside the liver after the right and left hepatic bile ducts have joined to form the common bile duct. This type of cancer is found where the common bile duct passes through the pancreas and into the small intestine.

Standard of care for first-line treatment consists of gemcitabine/platinum. Surgery is the only curative option for early-stage disease; unfortunately, most patients present with advanced, unresectable disease.

Learn More About Cholangiocarcinoma (CCA) & Treatment

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