A Rare Genetic Condition Revealed, Saving a Woman’s Life After Incurable Cancer Diagnosis

by Samantha Reed - Chief Editor
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Advanced Ovarian Cancer Patient Achieves Long-Term Remission After Immunotherapy and Lynch Syndrome Diagnosis

A woman initially diagnosed with advanced ovarian cancer and given a grim prognosis experienced complete remission after receiving immunotherapy, a treatment path unlocked by the discovery she had Lynch syndrome.

In January 2017, Diane Davis of Maine received a diagnosis of a softball-sized ovarian tumor that had spread to other organs after months of unexplained illness. Following three cycles of chemotherapy, a new mass appeared, a development her oncologist, Dr. Christopher Darus of MaineHealth Maine Medical Center, described as “extremely rare, extremely ominous,” with patients typically living less than two years with such rapid recurrence. Molecular testing revealed Davis had Lynch syndrome, a hereditary condition predisposing individuals to various cancers, including ovarian cancer.

Lynch syndrome, caused by defects in DNA repair proteins, results in tumors with a high number of mutations, making them more visible to the immune system. This led Dr. Darus to explore checkpoint inhibitors, and after the FDA approved pembrolizumab in June 2017, Davis began immunotherapy treatments. Within two treatments, the new mass had disappeared, and cancer on her lymph nodes was 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. Early detection of genetic predispositions to cancer is becoming increasingly important as personalized medicine advances; learn more about cancer genetics from the National Cancer Institute.

The diagnosis also prompted genetic testing for Davis’s family, revealing her daughter carried the Lynch syndrome gene and a precancerous polyp was removed during a screening colonoscopy at age 29 – a decade earlier than typically recommended. Six years after completing a two-year immunotherapy course, Davis remains cancer-free and in remission, though she continues to undergo regular scans. This case highlights the potential of immunotherapy to dramatically alter outcomes for patients with advanced cancers. You can find more information about immunotherapy at the Cancer Research Institute.

Doctors say Davis will continue to be monitored for other potential cancers associated with Lynch syndrome, but she is currently focused on enjoying time with her family.

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