Home Fairfield Danbury doctor, team developing early detection diagnostic tool for gynecological cancers

Danbury doctor, team developing early detection diagnostic tool for gynecological cancers

The WCHN research team. Seated left: Shiquan He, biostatistician; and John Martignetti, director, laboratory studies in human oncology. Standing from left: Candice Martino, research associate; Deep Pandya, research associate; and Sabina Swierczek, lead research associate.

With the ongoing development of a new tool aimed at providing early detection of ovarian and endometrial cancers, a Danbury doctor and his research team may be on the cusp of a major medical breakthrough.

“This tool has the potential of having the same effect that the … pap test did in the 1920s,” said Dr. John Martignetti, network director of the Laboratory for Translational Research at the Western Connecticut Health Network (WCHN) Rudy L. Ruggles Biomedical Research Institute in Danbury. “The pap test changed the face of cervical cancer from having 50,000 to 60,000 cases a year then to today, when you have maybe 5,000 to 10,000 cases a year because of earlier detection.”

The new tool in question is a novel liquid biopsy technique that has shown potential for earlier detection of gynecological cancers through a more comfortable, convenient and cost-effective screening.

Martignetti and his colleagues at both WCHN and the Icahn School of Medicine at Mount Sinai published a report in October highlighting the diagnostic tool’s potential in the Cold Spring Harbor Journal of Molecular Case Studies.

A liquid biopsy involves the sampling and analysis of nonsolid biological tissue — usually blood — as a diagnostic and monitoring tool for diseases like cancer. However, as Martignetti noted, searching for telltale signs of ovarian and/or endometrial cancer in a blood sample “can be like playing hide and seek, since you’re searching for a couple of molecules in ‘X’ liters of blood. And if you do find evidence of cancer, you don’t necessarily know where it’s located — it could be in the lung, the kidney or somewhere else.”

Martignetti and his team decided to take a more targeted approach by testing uterine fluid for tumor DNA at a molecular level through a uterine washing, or “lavage,” procedure. As a result, he said, pathologists have a better chance of detecting the presence of cancer cells, and even determining whether a given patient may be at risk of developing cancer, months earlier than is currently possible.

As with most diseases, early detection can be key to treatment and survival rates, Martignetti said, adding that heretofore the main option has been to wait until a patient experiences symptoms of cancer and then conducting a hysteroscopy, which involves examining the uterus with a lighted endoscope and can include a dilation and curettage (D&C) procedure, which involves the surgical removal of parts of the uterus for testing.

In its purest form the liquid biopsy approach avoids any cutting, Martignetti noted, but even if a D&C is performed, a liquid biopsy can be done in tandem, “by looking at what the surgeon and pathologist usually consider to be waste.”

Given the procedure’s early signs of success — the team’s original study of 102 women yielded evidence that tumor DNA can be found in the uterine fluid — the researchers have since been collecting samples from 1,000 women over the past two years. Martignetti said that ongoing work has shown encouraging signs that liquid biopsies may indeed be the answer.

But there is still work to be done, he said, noting that the diagnostic tool can suggest the presence of cells that may — but also may not — eventually mutate into cancer.

“There’s a chance that those cells may just die out before turning into cancer,” he allowed. “So if we tell someone they’re at a risk of cancer, but then they don’t have it, we’ve basically ruined their lives for three to five years. Obviously we don’t want to be misguiding women or making them needlessly anxious about their care. We want to do this in a thoughtful, timely way. And I think we will be able to do that.”

The numbers show the need for a reliable early- detection test, he added. According to the Centers for Disease Control and Prevention, some 20,000 women in the U.S. get ovarian cancer each year. The disease causes more deaths than any other cancer of the female reproductive system, but it accounts for only about 3 percent of all cancers in women.

According to the American Cancer Society, cancer of the endometrium is the most common cancer of the female reproductive organs. That group estimated that about 63,230 new cases of cancer of the body of the uterus would be diagnosed in 2018, with about 11,350 of those diagnoses proving to be fatal.

“This could be a game-changer,” Martignetti said. “The hope is that by detecting and eliminating these two cancers earlier, we can change the face of them and have fewer women dying of them.”

“This early detection focus and specifically, the lavage project, is actually part of a broader effort we now have at WCHN regarding gynecologic cancers,” he added. “It is part of the bio-banking effort that we offer all women treated at WCHN for these cancers and our studies into developing personalized biomarkers for surveillance and response to treatment.”

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