Zaida Mattson was diagnosed with cancer when she was 3 years old. She’s lived in Lafayette, Colorado her whole life but has spent the last 9 years in and out of hospitals all over the US working with some of the best cancer doctors in the country. In her fight against this disease, she’s endured multiple rounds of chemotherapy, radiation and a myriad of drug interventions. She has also undergone multiple surgeries to remove the tumors, including a complete hysterectomy, omentectomy and splenectomy.
She has had many ups and downs, and in 2014, her cancer was in decline and she seemed to be winning the battle.
But in 2015, a new lesion was found, and a needle biopsy confirmed that the disease had returned. Zaida’s cancer was no longer responding to the old treatments, and the tumors were growing again. This time, they had spread to her lungs and liver, and surgery was no longer an option. Her DNA was sent for sequencing, but the results didn’t reveal any new potential treatments.
Then something unexpected happened. The news of Zaida’s deteriorating condition spread through social media, and scientists at ArcherDX, a Boulder, Colorado-based biotechnology company, thought that they might be able to use their technology to discover something that others had missed, a mutation in her DNA that would potentially lead to a new drug intervention. They reached out to Zaida’s family. “It’s worth a shot. Send us some slides. It won’t cost anything, and we might find something out.”
Using RNA sequencing technology developed in Boulder, scientists at ArcherDX identified a specific gene fusion, a type of mutation that occurs when parts of two separate genes fuse to form a hybrid. The fusion found in Zaida’s RNA involves AKT1, a known cancer-causing gene and potential drug target. While fusions have been seen before between other genes, this was the first time anyone had identified an AKT1 fusion.
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Word about this discovery spread. Information was shared with colleagues at another Boulder-based company, Array BioPharma, who performed additional analysis of the AKT1 fusion. They verified that this gene fusion appeared to be a potential drug target and reached out to medical oncologists to figure out how to act upon it.