Rare mutation a lucky find for 32-year-old pancreatic cancer patient

About two years ago, Katie Bruckmann joined the Covid club when she became infected with the virus for the very first time.

"I had all the normal symptoms like fever and more annoying viral sort of symptoms," she said. "The one that really made me stop in my tracks and go to the doctor was this horrific pain in my spine and my ribs."

However, staff at an urgent care clinic attributed that pain to the Covid infection.

However that symptom, unlike all the others associated with the virus, did not go away.

"It was like you were being stabbed and your bones crushed," she said. "I couldn't move. I couldn't lean over to put my shoes on. I couldn't get dressed."

Katie thought it might be a 'long Covid' symptom – so despite her discomfort she returned to her Boston teaching job and just toughed out the pain.

But it soon became impossible to ignore.

"It got to the point where it was so painful that I was in tears all the time," she said. "I wasn't sleeping. I wasn't eating."

In the process, Katie lost 25 pounds. She noticed her clothes no longer fit. That's when she thought about getting medical help again. And so, last December, she underwent a series of tests and scans. On January 8, 2024, came the diagnosis.

"It was Stage IV pancreatic cancer," she said. "At 32-years-old. So that was the shock of my life."

It was a shock-worthy diagnosis. Pancreatic cancer remains one of the deadliest of malignancies – with long-term survival rates of only around 13%.

"Pancreatic cancer in the United States is the third leading cause of cancer-related death," said Brandon Huffman, MD, a medical oncologist at Dana-Farber Cancer Institute. "And unfortunately, it's expected to become the second-leading cause of cancer death by the year 2030."

Huffman, who is treating Katie Bruckmann, said the disease affects about 1 in 56 men and 1 in 60 women – but it's largely a disease of older age, with the average age of diagnosis around 70. It's also a cancer usually caught only in later stages.

"The signs and symptoms of pancreatic cancer are very non-specific," Huffman said. "Abdominal pain, unintentional weight loss due to loss of appetite, there could be jaundice."

There is no test for pancreatic cancer and its location in the body makes it difficult to visualize.

"It's right in the middle of the abdomen under the ribs," Huffman said.

Once diagnosed, pancreatic cancer is difficult to treat. Huffman said it tends to be aggressive. And, over time, pancreatic cancer cells develop resistance to available chemotherapeutic drugs.

But here is where Katie Bruckmann lucked out. Genetic testing of her pancreatic cancer cells – something recommended for all pancreatic cancer patients - revealed something rare: a mutation seen in fewer than one percent of cases.

"Her cancer has a RET fusion," Huffman said.

What made that a fortunate finding is the fact the FDA approved a drug that can specifically treat that form of pancreatic cancer. It is called selpercatinib and is sold under the brand name Retevmo.

"It blocks the signaling that encourages growth of the cancer cells," Huffman said. Best of all for patients: the drug is given orally.

After undergoing chemotherapy for six months, Katie began taking selpercatinib last June. She said her tumors continue to shrink and the horrible pain she endured is now gone. She's far from cured. She still has pancreatic cancer. But she's also got hope.

"I've been feeling great," she said. "I went back to work full time. I'm not back to normal because cancer is life-changing and it will never be the same as it was before. But I feel like I'm living again, you know?"

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