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Rare Cancer’s Genetic Pathway Identified; Intrahepatic cholangiocarcinoma


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12/27/2014
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An international research team has identified the “mutational landscape” of intrahepatic cholangiocarcinoma (ICC).

ICC is a rare, highly fatal form of liver cancer that disproportionately affects people in Asian countries.

ICC accounts for about 10% of primary liver malignancies worldwide. However, its incidence and mortality rates have been rapidly increasing in recent years. Currently, it attacks about one in 100,000 people annually in North America but 96 in 100,000 in Thailand.

The international research team identified how these mutations affect genes and signaling pathways that might drive the formation of tumors in ICC.

The findings were published in the journal Nature Communications, could potentially lead to earlier and more accurate diagnosis and increased survival rates for patients with the disease also known as intrahepatic bile duct cancer.

ICC patients usually receive poor prognosis, early tumors are undetectable during routine examinations because of the bile ducts are deep inside the body. Therefore, the diagnosis is often only after symptoms develop and the disease has advanced

According to a recent study, there are no effective therapies for ICC and the median survival duration is less than 6 to 9 months after diagnosis.

The collaborative nature of this international research project represents a standard for the study of rare cancers in Canada.

This research is the most comprehensive sequencing effort to identify mutations associated with ICC and will be an important resource for scientists working to improve understanding and therapy for the disease.

The study is also the first and only large-scale effort to target ICC patients in China and the largest of all such projects worldwide. It revealed that Chinese ICC patients show substantial important differences in mutation profile when compared with patients from other countries. This could have important implications for Chinese Canadians with the disease.



Category: Misdiagnosis and Failure to Diagnose

Gerry Oginski
NY Medical Malpractice & Personal Injury Trial Lawyer

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