Researchers On Track Developing Tool for More Precise Diagnosis of Gynecologic Cancers

New Milford Hospital

DANBURY, Connecticut, November 14, 2019 A promising new non-invasive diagnostic tool designed to detect women’s cancers, even at the earliest stages of disease development or their recurrence, is attracting interest and attention.

Researchers at Danbury Hospital’s Rudy L. Ruggles Biomedical Research Institute (Ruggles Research Institute), now part of Nuvance Health, and the Icahn School of Medicine at Mount Sinai have shown that an early detection tool for gynecological cancers, developed by the team, may also be used to determine whether chemotherapy and other invasive treatments are required for patients following an initial diagnosis. According to a just published study in the journal Cold Spring Harbor Molecular Case Studies, researchers believe that circulating tumor DNA (ctDNA) biomarkers can provide an additional source of information that could help avoid both misdiagnoses and prevent over-treatment.

Ovarian cancer is among the most lethal cancers, with 70 percent of women experiencing a recurrence of the disease within 18 months. This poor outcome often follows a grueling treatment regimen which can include surgeries, multiple rounds of platinum-based chemotherapy, radiation, CT and PET scans, biopsies, blood draws and other tests and treatments that affect patients’ physical and emotional health, well-being and quality of life.

Often described as a “silent killer,” the majority of women are diagnosed at the later stages of the disease. Further, diagnosing ovarian cancer presents unique challenges for physicians as symptoms are often non-specific, such as abdominal bloating, indigestion, changes in appetite, and back pain. Researchers from the Ruggles Research Institute and the Icahn School of Medicine at Mount Sinai believe that liquid biopsy, using personalized ctDNA biomarkers based on an individual’s specific tumor genetic “signature,” would lead to greater diagnostic accuracy.

The case study focused on a patient who initially presented with an unexplained whole-body rash and multiple uninformative dermatologic examinations, biopsies and treatments which eventually led to a diagnosis of ovarian cancer and surgery. Within a day following her debulking surgery, the rash — which the patient had endured over a three-month period — resolved. The patient received chemotherapy and she was clinically diagnosed as cancer free. Surprisingly and unexpectedly, one year later the rash reappeared, prompting speculation of tumor recurrence and a concern to initiate aggressive secondary treatment. However, the gynecologic oncology research team sought to use cutting-edge molecular techniques to better examine if her cancer had truly recurred. Using genomics-based testing and bio-banked tumor and blood samples which had been stored from the patient throughout the course of her care, researchers developed exquisitely sensitive and patient-specific ctDNA biomarkers which could detect even traces of her cancer if they were present in her bloodstream. Using these markers, they could demonstrate that no traces of cancer were detectable despite the presence of the patient’s unexplained rash. No additional treatment or chemotherapy would be prescribed. Now, two years after the patient’s original surgery, and with additional negative ctDNA findings, the patient remains healthy with no evidence of disease recurrence.

These results from a preliminary single-case study are encouraging, according to Dr. John Martignetti, director of the laboratory for translational research at the Ruggles Research Institute and an expert in human genetics and genomic sciences. Dr. Martignetti led the research team.

“The use of liquid biopsy and ctDNA is a promising tool designed to improve diagnostic, prognostic and predictive values in many types of tumors,” he said. “Based on these results, as well as our longitudinal precision medicine study which includes biobanking of tumor and blood samples from our patients, we believe that ctDNA could be a powerful tool for not only helping to detect disease earlier but just as importantly, to provide information and clarity on when additional treatment is not needed.

Andrea Rynn, Director, Public & Government Relations
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