APPLETON, Maine — When Diane Davis first received her diagnosis of advanced ovarian cancer in January 2017, it felt like both a devastating blow and a strange relief after months of unexplained illness. The 58-year-old from Maine had endured persistent lower back pain, severe nausea, and a string of inconclusive tests, bouncing from one specialist to another without answers. But a surgical discovery by her doctor revealed a softball-sized tumor that had already spread, setting her on a path that would uncover a rare genetic condition and ultimately save her life.
Davis' ordeal began in late 2016, according to her account. She sought medical help for symptoms that antibiotics failed to alleviate. Emergency room visits, including a CT scan and MRI, yielded no clear results. A colonoscopy also showed nothing abnormal. "I just got sicker and sicker," Davis said, describing the frustration of her undiagnosed condition.
It wasn't until she consulted Dr. Christopher Darus, a gynecologic oncologist at MaineHealth Maine Medical Center in Portland, that progress was made. Darus, alarmed by Davis' family history of multiple cancers, scheduled exploratory surgery for the very next day. During the procedure, he found the large ovarian tumor that had metastasized to other organs. "It was devastating, obviously, but I was relieved too, because at least now we knew," Davis recalled.
Darus removed the mass and devised a treatment plan centered on chemotherapy. However, after just three cycles, scans revealed a new mass in her pelvis, and the cancer had spread to her lymph nodes. Such a rapid recurrence is "extremely rare, extremely ominous," Darus explained. Typically, women whose ovarian cancer does not return within six months face a better prognosis, but those with faster recurrences often "live less than two years," he said.
"I did not expect, halfway through chemotherapy, to be in a worse situation than I was when I was first diagnosed," Davis said, capturing the despair of that moment. With standard treatments failing, Darus turned to molecular testing of the tumor, which revealed unique biomarkers pointing to Lynch syndrome, a hereditary condition that heightens cancer risk.
Lynch syndrome, as described by experts, is "essentially a cancer syndrome," according to Dr. Paul Oberstein, a medical oncologist at NYU Langone who studies the condition. It involves defects in at least four proteins that normally repair DNA. When these proteins are missing, cellular mistakes accumulate, creating what Darus likened to "a messy room" that attracts immune cells but allows cancer to evade them. Tumors in Lynch syndrome patients can harbor 50, 100, or more mutations, Oberstein noted, making them potentially more responsive to immunotherapy.
"That large number of mutations makes it easier for a person's immune system to respond to the tumor," Oberstein said. "Using immunotherapy to activate a Lynch syndrome patient's immune system against those cancer cells can lead to positive outcomes in many cases, though no treatment works for everyone."
The diagnosis provided crucial context for Davis' family history, which included her father and uncle dying from cancer in their 60s. With limited options left, Darus explored checkpoint inhibitors, drugs that "unmask" tumors to the immune system. In June 2017, the FDA approved pembrolizumab for certain patients, allowing Darus to prescribe it to Davis. She began infusions every three weeks.
Remarkably, after just two treatments, the pelvic mass vanished, and the lymph node cancer began receding. "It was kind of like a ping-pong ball: You get diagnosed, and then you get sick again, and then having the immunotherapy just swung me right back to feeling good," Davis said. She continued the therapy for two years, and six years after her initial diagnosis, her cancer remains in complete remission.
Davis' case highlights the growing role of genetic testing in cancer treatment, particularly for conditions like Lynch syndrome, which affects about 1 in 300 people but is often underdiagnosed. The syndrome carries a 50% inheritance risk from parent to child, prompting Davis to urge her family to get screened. Her brother and two sisters tested positive, while tracing it back to her paternal grandfather.
Her children also underwent testing. Her son was negative, but her daughter, then 29, tested positive and began early screenings. A colonoscopy—typically not recommended until age 45 or later—revealed a "very, very large precancerous polyp" that was removed without issue. "At 29 years old, she would not have had that screening until she had much more serious symptoms," Davis said. "So it's been really good in that respect." Today, her daughter is healthy.
Beyond her family, Davis' story underscores broader implications for ovarian cancer patients. Ovarian cancer is the fifth leading cause of cancer death among women in the U.S., with about 19,680 new cases and 12,740 deaths expected in 2023, according to the American Cancer Society. Advanced cases like Davis' often have poor prognoses, but identifying genetic factors like Lynch syndrome can open doors to targeted therapies such as immunotherapy.
Experts emphasize that while immunotherapy isn't a cure-all, its success in cases like this represents a shift toward personalized medicine. Darus noted that the high mutation load in Lynch-related tumors makes them ideal candidates for drugs like pembrolizumab. Oberstein added that ongoing research aims to refine these treatments, potentially improving outcomes for more patients.
Now in her early 60s, Davis focuses on life after cancer. She undergoes regular scans due to her elevated risk for other cancers but chooses to embrace the present. Time with her grandchildren, including hiking and snowmobiling, keeps her grounded. "It's been amazing. It's getting further and further in the distance, which is really strange, because when the chemotherapy failed, I pretty much thought, 'This is it.' I didn't think the future looked very promising at that moment. I thought I had maybe six months, given the speed at which the cancer grew," she said. "But it was amazing. It was really, really amazing."
As genetic testing becomes more accessible, stories like Davis' could become more common, offering hope to those facing seemingly incurable diagnoses. Medical professionals continue to advocate for routine molecular profiling in cancer cases, especially with strong family histories, to uncover hidden opportunities for life-saving interventions.