Woman’s Rare Genetic Condition Leads to Breakthrough Cancer Treatment
Diane Davis faced a harrowing journey through misdiagnoses and escalating health issues before discovering a rare genetic condition that transformed her cancer treatment. Initially diagnosed with advanced ovarian cancer in January 2017, she had experienced months of debilitating symptoms without clear answers, receiving antibiotics and undergoing multiple tests, including a colonoscopy, all to no avail.
During her visit to Dr. Christopher Darus, a gynecologic oncologist at MaineHealth Maine Medical Center, further investigation led to exploratory surgery. This revealed a softball-sized 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. Following the surgery, Dr. Darus outlined a treatment plan that included chemotherapy.
After three cycles of treatment, however, Davis faced an unexpected setback. Dr. Darus noted the rapid recurrence of her cancer, which typically indicates a poor prognosis. “Women whose cancer does not return within six months have a better outlook,” he explained. Unfortunately, Davis’ cancer had also spread to her lymph nodes, leaving her feeling disheartened.
In a pivotal moment, Dr. Darus submitted Davis’ tumor for molecular testing. The results indicated unique biomarkers associated with a condition known as Lynch syndrome. According to Dr. Paul Oberstein, a medical oncologist at NYU Langone, Lynch syndrome significantly increases susceptibility to various cancers, including ovarian cancer. This new diagnosis provided clarity regarding the cancer history in Davis’ family and opened doors for alternative treatment options.
Lynch syndrome is characterized by mutations in proteins that repair DNA. When these proteins are absent, cells can accumulate errors, leading to cancer. Dr. Darus explained that the tumors resulting from Lynch syndrome could have numerous mutations, which potentially makes them more recognizable to the immune system. This insight led to the consideration of immunotherapy as a treatment option.
In June 2017, following the FDA’s approval of a drug called pembrolizumab, Dr. Darus prescribed it for Davis. She began receiving immunotherapy treatments every three weeks. Remarkably, within just two treatments, the new mass in her pelvis had disappeared, and the cancer in her lymph nodes was diminishing. “It was kind of like a ping-pong ball,” Davis reflected on her treatment journey.
The notification of Davis’ Lynch syndrome diagnosis had significant implications for her family. As it is a genetic condition with about a 50% chance of being inherited, it prompted her to encourage her children to undergo genetic screening. While her son tested negative, her daughter was found to be positive for Lynch syndrome. This early diagnosis allowed her daughter to begin screenings a decade earlier than the typical age, resulting in the discovery and removal of a large precancerous polyp.
Today, several years after her diagnosis, Davis remains in good health, with her cancer in complete remission. She has continued to receive regular scans and is aware of her elevated risk for other cancers. Nevertheless, she has chosen to focus on her family, especially her grandchildren. “It’s been amazing,” she said, expressing gratitude for the time spent with them.
Davis’ journey from a bleak diagnosis to a hopeful future underscores the importance of genetic testing and personalized medicine in cancer treatment. Her story is a testament to resilience and the potential for innovative therapies to change lives.
