THE CHALLENGE

ACC is notoriously difficult to treat, simply because it is rare and there are no targeted therapies. The situation is further complicated when the patient’s molecular profile reveals a NOTCH1 mutation – a genetic alteration for which there are no approved treatments.

For the 34-year-old athlete, the diagnosis of ACC in his left eye socket was a shock. The rare and aggressive cancer threatened not only his athletic career, but also his life, especially since it had spread to his liver and bones.

PRECISION CANCER SOLUTIONS

The treatment team performed a comprehensive genetic analysis using next-generation sequencing on a panel of 591 cancer genes, then used Genomate®’s system to search for potential treatment options. The molecular profile revealed a NOTCH1 mutation, which according to current scientific literature is a potential target, although no targeted therapy has been approved. Molecular tumor panel experts identified a clinical trial at MD Anderson Cancer Center (USA) for a NOTCH1 inhibitor - a promising therapy for patients with this mutation, although it has not yet been formally approved.