Little is known about what causes ovarian cancer, and there is no way to detect it early yet. About 75% of the time when someone is diagnosed with ovarian cancer, it has already progressed to stage 3 or stage 4, which means it has spread to other parts of the body. Mayo Clinic physicians, researchers and patients had been working together to learn more about this devastating disease when a 22-year-old patient, who has two rare genetic conditions that dramatically elevate lifetime cancer risk, came to Mayo Clinic.
The patient carries a hereditary BRCA2 mutation, which is one of the genes that causes hereditary breast and ovarian cancer (HBOC) syndrome, and a hereditary TP53 mutation, which causes Li-Fraumeni syndrome.
At Mayo Clinic, she was diagnosed with breast cancer. Imaging also revealed she had an ovarian cyst. Although the cyst was benign, she chose to have a mastectomy and hysterectomy with removal of her ovaries and fallopian tubes, a procedure called a bilateral salpingo-oophorectomy, because of her elevated cancer risk. Upon further examination, her Mayo Clinic physician and research team detected early, hidden changes in the cells lining her fallopian tubes, revealing signals that may point to the first signs of ovarian cancer before symptoms or visible lesions appear.
"Our team glimpsed a rare and revealing phenomenon in epithelial biology, uncovered through the cells of a young patient living with profoundly high-risk genetic conditions. Using cutting-edge, single-cell technologies, we traced how her epithelial cells were developmentally altered in ways that signaled a high risk for lethal ovarian cancer. These insights could pave the way for future strategies to detect the disease in its earliest, precancerous stages when prevention is still possible," says Nagarajan Kannan, Ph.D., director of the Stem Cell and Cancer Biology Laboratory at Mayo Clinic and co-lead author of this study published in JCO Precision Oncology.
Jamie Bakkum-Gamez, M.D., the patient's gynecologic oncology surgeon at Mayo Clinic, says she is determined to find a way to detect ovarian cancer earlier to help save more patients' lives.
"We know that the most aggressive and common form of ovarian cancer often actually starts in the fallopian tube. However, why the fallopian tube and how it starts are not yet known. Knowing how ovarian cancer begins and forms could not only lead to the development of earlier screening tools, but also more personalized risk-reduction strategies and improved guidance around the timing of preventive surgeries and fertility planning," says Dr. Bakkum-Gamez, who is a co-lead author of this study.
Watch: Dr. Jamie Bakkum-Gamez on revealing hidden signs of ovarian cancer risk
