Targeted immunotherapy helps Florida woman beat Lynch syndrome-driven colon cancer
By Nicole Brudos Ferrara
Cancer has always been a part of 44-year-old Katie Cunningham's life.
"We have an extensive family history of colon cancer on my dad's side. We have a document going back to the 1800s," says Katie.
Katie and her family members have Lynch syndrome, an inherited condition that increases the risk of colon and endometrial cancer, and several other cancers. Lynch syndrome also causes cancers to occur at an earlier age than in the general population.
In certain situations, people with Lynch syndrome may consider surgery to reduce their risk of cancer. This might include surgery to remove ovaries and the uterus to prevent ovarian and endometrial cancer, or surgery to remove most or all of the colon.
Katie underwent genetic testing in her early 20s and learned that she, too, had Lynch syndrome.
Katie, who is a busy attorney working in Florida's court system, plays volleyball and competes in triathlons in her spare time. Lynch syndrome doesn't slow her down. But she always makes time for annual cancer screenings.
"Without fail, I have a month of health. I do everything — colonoscopy, uterine biopsy, pelvic ultrasound and a skin check — because if you have Lynch syndrome, that's part of it, as well," she says.
Eventually, Katie chose to have a complete hysterectomy to reduce her risk of endometrial and ovarian cancer.
A change in annual screening routine
Colonoscopies are not something Katie normally dreads. She and her husband have developed a routine around her annual colorectal cancer screening. He drops her off for the procedure, and once she's had what she calls "the best nap in the universe," he picks her up, gets her a Chick-fil-A breakfast, and they take a dip in their hot tub.
But her November 2020 colonoscopy was different. It revealed cancer. Katie says it was difficult to process that news, as she was recovering from the sedative and pain medication she had received for the procedure.
"Waking up from a colonoscopy — it's not ideal to be told you have cancer because you forget, right? You have to ask, 'There's something in there, right'? Like, 'Wait, what does that report say'? You have to relive it over and over again until it sticks," says Katie.
A CT scan the next week revealed the unthinkable: Katie had colon cancer, and it had spread to her liver. In the single year since her last colonoscopy, she had developed the most advanced stage of colon cancer.
"That's a reality check," she says.
Finding help in a hurry
Katie knew that with the cancer moving fast, she would need to move even faster to get treatment. After exploring care options near her home in Tallahassee, Florida, she contacted a distant family member who also has Lynch syndrome and had received care at Mayo Clinic in Rochester, Minnesota. That led her to Amy Oxentenko, M.D., a Mayo Clinic gastroenterologist.
"She sent me an email saying: 'I know you've never met me, but you've cared for a number of my relatives in Rochester. I've just had this diagnosis, and I live in the Florida region. Do you know anyone here that could help,'" says Dr. Oxentenko.
Dr. Oxentenko emailed colleagues at Mayo Clinic in Florida and explained Katie's situation. "Within a very short time, she sent me a follow-up message, saying that she already had appointments booked," says Dr. Oxentenko. "And then I didn't hear from her for a number of months."
Immunotherapy offers hope
Because Katie was young, active and otherwise healthy, Dr. Jones and the care team suggested an aggressive treatment plan that included immunotherapy followed by surgery to remove any remaining cancer.
"Fortunately, there's been a lot of work for patients with Lynch syndrome," says Dr. Jones. "It used to be that they had really aggressive cancers, and we just didn't have a great way of treating them. But over the last five to seven years, we've had an explosion of drugs called immunotherapies. We've seen dramatic responses and unlikely cures in patients."
Dr. Jones wanted to start Katie on a combination of immunotherapy drugs called nivolumab and ipilimumab, which work together to help the body's immune system recognize and kill cancer cells. "We had data that suggested patients with her tumor type should benefit from this drug combination as a first treatment," he says.
There was just one problem: Katie's insurance declined to cover the immunotherapy treatment. Fortunately, she successfully appealed the decision. After 24 stressful hours, and a series of social media messages, emails and phone calls, Katie's insurance provider approved the treatment.
"It was the first time I've ever had a medical director of an insurance company call me and essentially apologize to me," says Dr. Jones. "It was refreshing."
Katie didn't waste any time starting immunotherapy.
"I did four treatments total. Every three weeks, I came to Mayo," she says.
And while she recalls having some short-lived GI (gastrointestinal) issues and dry mouth, she says she experienced very few side effects.
"I really felt great, for the most part, through it all. I was playing volleyball and riding my mountain bike. And since I was working from home during the pandemic, I never really took chunks of time off."
An atypical treatment response
On Feb. 5, 2021, Katie returned to Mayo Clinic in Florida for bloodwork and another round of scans to assess the results of her immunotherapy treatment.
"Everything had drastically shrunk. They really couldn't even discern anything in my colon from the scans," she says. "I remember Dr. Jones saying: 'It looks like everything's necrotic. We think it's all dead. But there's no way to know unless you have surgery.'"
Katie wanted to be sure, so she scheduled the surgery. Her surgical team included Kris Croome, M.D., a Mayo Clinic hepatobiliary surgeon, and Dorin Colibaseanu, M.D., a Mayo Clinic colorectal surgeon who removed the parts of her liver and colon containing tumor tissue.
Katie endured some unpleasant post-surgery complications, including an abscess and pleural effusion, but in the end, the results of her surgery were excellent.
"Dr. Colibaseanu called and said: 'We couldn't find any viable cancer. Everything was necrotic.' So, I'm like: 'Doc, are you saying I don't have cancer anymore? Because if that's what you're saying, you could just tell me that.' He laughed and said, 'Well, yeah, we don't think so,'" says Katie. "It's kind of crazy to wrap your brain around in such a short time period — to hear such Earth-shattering, life-changing news and then to hear, 'Oh, yeah, no, you're good.'"
"She had a wonderful response," says Dr. Jones. "We still saw some lesions, but we didn't know for sure. So she went for surgery. And at the time of surgery, all the cancer was dead. That's amazing."
Dr. Jones stresses that Katie's response to treatment was extraordinary.
"Nothing about Katie's case is typical," he says.
But the results of her treatment underline the importance of an individualized approach to cancer care.
"At Mayo Clinic, we're going to individualize your care specifically for you and your mutation in a multidisciplinary fashion for the best outcome," says Dr. Jones.
The luckiest unlucky person
Katie will receive follow-up care related to her colorectal cancer treatment for at least five years, and her annual Lynch syndrome checkups will continue. For now, she has peace of mind that she is cancer-free. And with only 10 remaining inches of colon, she says those annual colonoscopies are going to get easier.
"It's going to be a pretty quick procedure, isn't it?" she says, laughing.
It's important to Katie to help others see awareness of Lynch syndrome — and the annual screenings that come with it — as a gift.
"I've just always approached it that way," she says. "How lucky am I to know this? If I did not know that I have this gene mutation, I wouldn't be getting colonoscopies, and I very likely would have been dead in short order. I am the luckiest unlucky person."
Learn more about Lynch syndrome and find a Lynch syndrome clinical trial at Mayo Clinic. Learn more about colon cancer and find a colon cancer clinical trial at Mayo Clinic. And join the Colorectal Cancer Group on Mayo Clinic Connect.
Also, read these articles:
- "Mayo research using DNA to catch cancer, other medical conditions earlier."
- "What you should know about genetics, colorectal cancer."
- "Younger than 50? Don't rule out colorectal cancer."
- "Gather your family health history; it could save your life."
- "Mayo Clinic patient grateful after genetic test leads to unexpected, early detection of colon cancer."