Next-generation sequencing leads to personalized liver cancer treatment

A case published recently in ecancermedicalscience reports the first instance of a patient with intrahepatic cholangiocarcinoma (ICC) to receive personalized treatment based on their genetic profile. The authors also report the first use of combined dabrafenib and trametinib therapies for the management of ICC.

“Using the information from the genetic makeup of our patient’s cancer, we were able to formulate a personalized treatment,” explained lead author Arturo Loaiza-Bonilla (University of Pennsylvania, PA, USA).

ICC, a cancer of the internal ducts of the liver, has a markedly low survival rate alongside limited treatment options. After diagnosing the 47-year-old female patient with the disease and consulting a multidisciplinary tumor board of clinicians and researchers, doctors ordered next-generation sequencing of the tumor with the aim of elucidating possible treatment options.

The results revealed a BRAF mutation (more commonly found in melanoma) within the tumor, which leads to abnormal cell growth. Jennifer Morrissette (University of Pennsylvania) explained the positives of this result: “This BRAF mutation has a well-described targeted therapeutic agent.”

The team of doctors then prescribed a combination of dabrafenib and trametinib, common therapies in melanoma, which target this type of BRAF mutation. This treatment triggered an “exceptional response” according to Loaiza-Bonilla: “This led to significant, fast tumor shrinkage to such a degree that most of the cancer was no longer evident, along with symptom improvement in a durable fashion.”

The patient is tolerating the experimental treatment well and many of her symptoms have been alleviated. Loaiza-Bonilla hopes that this case will highlight the benefits of utilizing next-generation sequencing to provide personalized medical profiles.

Source: Loaiza-Bonilla A, Clayton E, Furth E, O’Hara M and Morrissette J. Dramatic response to dabrafenib and trametinib combination in a BRAF V600E-mutated cholangiocarcinoma: implementation of a molecular tumour board and next-generation sequencing for personalized medicine. ecancermedicalscience DOI: 10.3332/ecancer.2014.479 (2014).