When a Rare Genetic Discovery Rescued a Cancer Patient

Diane Davis faced what seemed like a never-ending ordeal. Diagnosed with advanced ovarian cancer, she believed a solution was finally in sight.

Months of deteriorating health led her to consulting a plethora of doctors. Neither antibiotics nor comprehensive medical scans revealed the cause of her symptoms, which included severe nausea and lower back pain.

"I was getting worse as days went by," Davis expressed.

It was in January 2017 that Dr. Christopher Darus, a gynecologic oncologist from MaineHealth Maine Medical Center, uncovered the grim reality. Drawing from Davis's family history rife with cancer, he decided to perform exploratory surgery, during which he discovered an ovarian tumor the size of a softball. The cancer had already wandered to adjacent organs.

"The news was both devastating and relieving," said Davis, acknowledging the clarity that came with diagnosis.

Unexpected Obstacles in Treatment

After the mass was surgically removed, a treatment strategy was set comprising chemotherapy. However, even after three chemotherapy sessions, another tumor had emerged in her pelvic area.

According to Darus, such swift recurrence is ominously rare in ovarian cancer. Generally, if cancer doesn’t return within half a year, the outlook is more positive. Fast recurrence, like Davis experienced, often means a survival period of under two years. Her cancer had also spread to lymph nodes.

"Halfway through the treatment, the situation worsened, which was not anticipated," Davis described.

Genetic Testing Uncovers Lynch Syndrome

Darus then decided to send Davis's tumor for intricate molecular testing, which pinpointed biomarkers indicative of Lynch syndrome—a genetic condition amplifying cancer risk.

Dr. Paul Oberstein of NYU Langone elucidated that with Lynch syndrome, a person is more vulnerable to multiple cancer types due to faulty DNA repair proteins.

In Davis's case, this discovery facilitated exploring new treatment avenues, as Darus explained how missing proteins can allow genetic errors to stack up, misleading the immune system and fostering tumor growth.

These tumors, with numerous mutations, pose challenges and opportunities. They often evoke an immune response, albeit insufficient. Yet, treatments such as checkpoint inhibitors can reveal cancer to the immune system, potentially leading to better outcomes.

Fortunately, in June 2017, the FDA approved pembrolizumab—a drug allowing the immune system to fight off cancer cells. Davis began receiving this immunotherapy every three weeks.

Remarkably, by the second treatment, the pelvic mass had vanished, and her lymph node tumors were lessening.

A Turning Point in Life

Davis equated her experience to a bouncing ball—her health fell and then remarkably rebounded. Her newfound diagnosis of Lynch syndrome also revealed much about her family health history.

With a 50% genetic transmission rate, this condition has affected several family members. Her paternal grandfather introduced the gene, purportedly passing it to relatives, contributing to their cancers.

Prompted by her experience, Davis urged her children to undergo testing. Her son was spared, yet her daughter tested positive, necessitating early and frequent cancer screenings. A life-saving colonoscopy at age 29 revealed and removed a sizable precancerous polyp.

"Without those screenings, facing severe symptoms was inevitable," noted Davis.

After two years on immunotherapy, Davis reached complete remission, now six years cancer-free. Despite an elevated cancer risk, she focuses on enjoying life with her grandchildren. Reflecting on the changes, she stated, "Looking back, survival felt tenuous, but now, the future holds hope again."