VANCOUVER, B.C. - Twenty years in the making, a gene mutation in a rare pediatric cancer – discovered by Dr. Poul Sorensen’s lab in 1998 – snowballed into a new drug that has just been approved and targets at least 22 types of cancer. The discovery made two decades ago was driven by Dr. Sorensen’s work to distinguish congenital fibrosarcoma, a rare and deadly type of connective tissue tumour in very young children, from a benign lesion called fibromatosis that looked similar under the microscope. “When you’re talking about a one-year-old kid, the stakes are so high. Surgery or chemotherapy for a one-year-old is a far more delicate and risky undertaking than it would be for an adult,” says Dr. Sorensen of his desire to find a clear way to distinguish the deadly cancer from its benign identical twin. His work identified a gene-fusion that was driving the cancer. The publishing of this finding in Nature Genetics sparked researchers around the world to investigate the mutation known as ETV6-NTRK3. In 2002, Sorensen’s team proved this gene was also a driver in some breast cancers. The discoveries kept coming as ETV6-NTRK3 was found in many other tumours, and then related mutations in other NTRK genes were identified in colorectal cancers, lung cancer, brain tumours, melanoma, and other tumour types, leading to the creation of a new category of tumours – NTRK fusion cancers. A cancer drug that targets a mutation in many cancers Loxo Oncology, a pharmaceutical company, began developing a drug to target the gene mutation in the mid 2000s and just last week larotrectinib, licensed by Bayer Pharmaceuticals, was approved by the FDA, one of the first to be classified based solely on a genetic driver. In clinical trials leading up to the drug’s approval, it shrank tumours in 76 per cent of patients. Some saw their tumours vanish entirely while others saw their cancer stabilize. The approval of larotrectinib represents a new approach to cancer drugs and their regulation – one drug that is intended and approved for a wide variety of cancers, with the common link being their genetic driver. BC Cancer was the first in Canada to introduce genetic panel testing into routine cancer care, a practice that will help adopt genetic-targeted drugs into practice quickly. The genetic testing is critical in identifying which patients will benefit from such targeted therapies. On the progress sparked by his discovery 20 years ago, Sorensen says: “What’s really gratifying to me is that it validates the idea of studying rare tumours in pediatrics. These rarer tumours are often less genetically complex, so it’s easier to discern the driving pathways, revealing fundamental processes of cancer growth. It’s gratifying that this time around, we were able to see the bigger picture.” - 30 - For media enquiries, please contact: Hayley Judge Communications Specialist t. 604.707.5907 c. 604.764.0666 e. email@example.com The BC Cancer Foundation is the fundraising partner of BC Cancer. Together with our donors we are changing the outcome for people affected by cancer in B.C. and beyond by connecting personalized care, innovative research and opportunities to contribute. We are the largest funder of cancer in B.C. and every dollar raised stays right here at BC Cancer to advance research, enhance care and break down cancer to benefit the people of B.C.