For Cholangiocarcinoma Patients, Mutations Matter

Molecular profiling can open the door to additional, personalized treatment options for those with cholangiocarcinoma (CCA) or other rare cancers.

video also available in:


Tell your doctor, now, that you’re interested in molecular profiling.


"Molecular profiling can provide more options for treatment, including clinical trials.  I am alive today because of a clinical trial."

-Melinda Bachini, 9-year survivor of cholangiocarcinoma


What is Cholangiocarcinoma (CCA)?

Cholangiocarcinoma is a rare cancer that starts in the bile duct, a thin tube that runs from the liver to the small intestine.

There are three types of cholangiocarcinoma, named for their location along the bile duct:

  • Intrahepatic cholangiocarcinoma (ICC) begins in the small bile duct branches within the liver
  • Extrahepatic cholangiocarcinoma (ECC) refers to the two types of cholangiocarcinoma found outside the liver:
    • Perihilar (Hilar) cholangiocarcinoma, also called a Klatskin tumor, is the most common type of cholangiocarcinoma, and
    • Distal cholangiocarcinoma 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

When CCA is found early, surgery is the best treatment option; however, because many of the signs and symptoms of CCA can go unnoticed, it often isn’t diagnosed until the cancer has advanced (spread). At that point, chemotherapy is often the likely treatment. Molecular profiling may change that.


Molecular Profiling for Cholangiocarcinoma

No two tumors are exactly alike. Even among people with the same type of cholangiocarcinoma, the cells that make up each person's tumor have their own unique features—or mutations. These mutations can affect how—or if—the tumor will respond to various treatments.

Although there are few approved treatments for cholangiocarcinoma, there are about 25 known mutations associated with this cancer. Several of these mutations are seen both in CCA and other cancers.

Interestingly, there are treatments that target these mutations being used in other cancers! Researchers have been looking at whether these treatments might also work for people with cholangiocarcinoma.

Molecular profiling is a test your doctor can order to find out which mutations are present in the cells that make up your tumor. If you have a mutation that is also seen in other cancers, molecular profiling could open the door to other treatment options, including targeted therapies, immunotherapies, and access to clinical trials.

The Cholangiocarcinoma Foundation has a list of clinical trials open to those with cholangiocarcinoma.

How and When to Be Profiled

The Cholangiocarcinoma Foundation strongly urges early testing for all patients with cholangiocarcinoma.

The best time to be profiled is now, or as soon as possible, as the results can help direct your treatment.

Insurance Coverage for Molecular Profiling

Recognizing the value of molecular profiling in a variety of cancers, more and more, insurance companies are covering this testing.

Know More About Your Molecular Profiling Options

Perthera has partnered with the Cholangiocarcinoma Foundation to help guide you and your doctor through the genetic profiling process.

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
Invalid Email
Invalid Number
  • 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.

Learn More About Cholangiocarcinoma & Treatment


video created by


supported by a grant from