SNP Shot: Genomic Insights

Cholangiocarcinoma refers to a collection of cancers originating in the bile ducts. These ducts are a network of tubes connecting the liver and gallbladder to the small intestine. Their function is to transport bile, a fluid produced by the liver and stored in the gallbladder, which aids in the digestion of fats. Bile is released into the small intestine after eating.

Cholangiocarcinomas are categorized based on where they originate relative to the liver. Intrahepatic cholangiocarcinoma starts within the liver's small bile ducts and is the least prevalent type, representing fewer than 10% of cases. Perihilar cholangiocarcinoma, also called a Klatskin tumor, develops at the hilum, the junction where the primary right and left bile ducts converge as they exit the liver. This is the most common form, accounting for over half of all cases. Distal cholangiocarcinomas, the remaining cases, begin in the bile ducts located outside the liver. Perihilar and distal cholangiocarcinomas are sometimes grouped as extrahepatic cholangiocarcinoma since they both occur outside of the liver.

In their early stages, the three types of cholangiocarcinoma generally don't produce noticeable symptoms. Consequently, the cancer is often diagnosed only after it has spread beyond the bile ducts. Symptoms commonly arise when the tumor obstructs the bile ducts. Jaundice, characterized by yellowing of the skin and eyes, is the most frequent symptom. Other symptoms may include severe fatigue, itching, dark urine, appetite loss, unintentional weight loss, abdominal discomfort, and pale, greasy stools. These symptoms are considered "nonspecific" as they can be associated with various other medical conditions.

Cholangiocarcinoma predominantly affects individuals over the age of 65. Due to the cancer's late detection, effective treatment can be difficult. Survival after diagnosis ranges from several months to several years, depending on the tumor's location and stage of progression.

Inheritance:

Cholangiocarcinoma is not an inherited condition. Research indicates that individuals with blood relatives who have had cholangiocarcinoma may have a slightly higher risk of developing the cancer compared to the general population. However, the majority of cholangiocarcinoma patients do not have a family history of the disease.