The treatment, conducted at the University of Pennsylvania, identified a mutation in the BRaf gene which is commonly mutated in melanoma. Subsequent treatment with dabrafenib and trametinib resulted in rapid tumor shrinkage.
Using the information from the genetic makeup of our patient's cancer, we were able to formulate a personalised treatment," says Dr Arturo Loaiza-Bonilla of the University of Pennsylvania, lead author of the case report published in ecancermedicalscience.
This is the first reported case of the use of personalised genomic information for the successful management of ICC, as well as the first use of combined dabrafenib and trametinib therapies to treat this condition.
The woman was diagnosed with intrahepatic cholangiocarcinoma, a cancer of the internal ducts of the liver. This cancer has a very low survival rate and limited treatment options.
After consulting a multidisciplinary tumour board of clinicians and researchers, a team of doctors from the University of Pennsylvania ordered next-generation sequencing of the tumour. They hoped to find clues to potential treatments in the patient's genome.
They discovered that her tumour had a unique genetic change called a BRAF mutation, which causes abnormal cell growth. BRAF mutations are more commonly associated with melanoma.
Link to the complete report on ScienceDaily: http://bit.ly/1vUvvIy