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Alabama resident Fred didn’t worry too much when he felt a kidney stone coming on. He’d had minor kidney stones before, so he knew what to expect. This time was different, though. When he noticed a large amount of blood in his urine, he called his doctor right away.
The CAT scan his doctor ordered confirmed there was a small kidney stone in his bladder, but also something else: a very large mass on his liver. After a follow-up MRI, Fred was diagnosed with cholangiocarcinoma, or CCA, which is a rare and often overlooked cancer that forms in bile ducts, which are tubes that connect the gallbladder and liver to the small intestine. These ducts carry bile (fluid made in the liver that helps with digestion) to the small intestine. Fewer than 10,000 people are diagnosed with CCA in the U.S. each year, although there may be more cases that go undiagnosed.
As in Fred’s case, it was not clear from his initial symptoms what the problem was, so his cancer unfortunately had time to grow and spread before the diagnosis was made.
“I think in general CCA patients are way down the road as far as the cancer spreading, just because there can be no telltale signs,” observed Fred.
Symptoms of CCA
This rare cancer is often misdiagnosed, as its symptoms are non-specific:
- Weight Loss
- Night Sweats
- Abdominal Pain
Because diagnosing CCA is so challenging and requires additional testing, it often remains undiagnosed until it has reached an advanced stage or metastasized, and prognosis is poor.
However, new technology known as biomarker testing can help improve patients’ prognosis, and Fred’s doctor referred him to a CCA specialist to undergo this testing and pinpoint exactly what kind of cancer he had.
Biomarker testing gives doctors crucial new information
“Biomarker” is short for “biological marker.” Thanks to technological advances, doctors can now examine tissue from a patient’s body to determine cancer biomarkers, which are specific biological molecules, to further assess the exact type of cancer a patient has – which can open the door to more individualized management plans.
“I was grateful that the doctors got plenty of biopsy material to confirm that it was CCA, and that also allowed for biomarker testing to be performed on my tissue sample,” Fred explained. “It came back confirming I had the FGFR2 fusion gene abnormality.’ The fibroblast growth factor receptor 2 (FGFR2) gene makes a protein that is involved in a number of processes related to our cells’ health, growth, and maturation. An abnormality in the FGFR2 gene may cause the FGFR2 protein to become overactive in certain cancers. Fred’s results from biomarker testing helped doctors identify the best steps forward.
Fred’s background both as a biology major and a salesman has made him an advocate for this testing when speaking to other patients with CCA. “You’d be surprised to hear there are people out there with CCA or other cancer types who have never had biomarker testing,” said Fred. “Whenever I’m with other patients, I always ask if they’ve had biomarker testing.”
Support while managing CCA
On February 12, the CCA community rallies together for World Cholangiocarcinoma Day to show support for those battling this rare cancer.
Fred’s family appreciates the support of the CCA community, especially the Cholangiocarcinoma Foundation, and Fred has maintained a positive attitude throughout his journey.
“I’m a very positive person. My glass is always half full, not half empty. That is critical to keeping up the fight when you’re down,” said Fred. “My wife Jill and I currently have two young grandkids, and our goal is just to see them grow, as long as I can.”
To learn more about CCA in honor of World Cholangiocarcinoma Day, February 12, visit the Cholangiocarcinoma Foundation’s website Cholangiocarcinoma.org. Patients and family members interested in learning about biomarker testing can also visit TestMyCholangio.com.
 ‘Cholangiocarcinoma: Definition.’ National Institutes of Health. https://ghr.nlm.nih.gov/condition/cholangiocarcinoma#definition. Accessed 1/10/2022.
 ‘Key Statistics for Bile Duct Cancer.’ American Cancer Society. https://www.cancer.org/cancer/bile-duct-cancer/about/key-statistics.html. Accessed 1/10/2022.
 ‘Signs of bile duct cancer include jaundice and pain in the abdomen.’ NIH: National Cancer Institute. https://www.cancer.gov/types/liver/patient/bile-duct-treatment-pdq. Accessed 1/10/2020.
 Uhlig J, et al. Ann Surg Oncol. 2019;26:1993-2000.
 ‘How are biomarkers used to treat cancer?’ The University of Texas MD Anderson Cancer Center. https://www.mdanderson.org/cancerwise/how-are-biomarkers-used-in-cancer-treatment.h00-159460056.html. Updated April 5, 2021. Accessed January 10, 2022.
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