Ovarian cancer detection takes a step forward with liquid biopsy

Ovarian cancer is most often found in people of middle-age or older as the Wilmot study showed that the mean age of participants was 56.

Of the 183 participants, 42 were found to have ovarian cancer, which is 23 percent. The technology also discovered that 20 other participants had non-ovarian cancers.

Ovarian cancer symptoms can be vague, such as gas and bloating, but there are some that should not be ignored, Moore said: pelvic pain or pressure, feeling full quickly after eating, vaginal discharge or abnormal bleeding, urgency to urinate frequently, fatigue, upset stomach, pain during sex, constipation, or menstrual changes.

Because ovarian cancer is most often diagnosed in later stages.

A new type of technology can capture stray ovarian cancer cells from a simple blood test and successfully predict cancer in people who have a lesion or cyst in the pelvic region, according to a new study by a Wilmot Cancer Institute physician/scientist.

Nearly 200 local people participated in the study.

One of those local participants, Toni Masci, 51, of Fairport, took part in Moore’s study by providing blood samples for analysis. She had an ovarian cyst that burst — only to find out that a large tumor was also in her abdomen. She was treated with surgery and six rounds of chemotherapy in 2017 for stage 1 ovarian cancer, and just celebrated the milestone of five years in remission.

“I feel lucky to be part of this,” Masci said. “As most people know, ovarian cancer usually doesn’t get detected early. If Dr. Moore hadn’t been doing this research, we might not have had this advance and I might not be here.”

Currently, there is no routine ovarian cancer screening method available for people who do not have symptoms or a known lesion. And yet, the new technology, called a “liquid biopsy,” developed by United Kingdom-based ANGLE PLC, and the URMC team at Wilmot, advances the field in a couple of important ways, according to the study:

  • It confirmed for physicians quickly and accurately that cancer was present in patients who were scheduled for surgery or other procedures. The detection enabled physicians to classify which patients needed immediate care from a specially trained gynecological oncologist to improve survival.
  • The study analyzed gene expression from captured cells in blood and evaluated 72 different gene transcripts and seven blood biomarkers related to ovarian cancer (including CA125). From this collection, the study identified nine gene transcripts and four biomarkers that were useful for detecting cancers. They were used to develop an algorithm known as MAGIC (Malignancy Assessment using Gene Identification in Captured Cells). The algorithm achieved a sensitivity of 95 percent and an accuracy of 83 percent for detecting ovarian cancer.
  • In the clinical trial, MAGIC also was able to detect ovarian cancer in early and late stages. Early-stage detection is critical for survival and difficult to achieve. And, the test picked up other types of cancer that had spread to the pelvic region or originated there.

“This is an important step forward for the detection of ovarian cancer in patients with a pelvic mass,” Moore said. “The fact that we can capture circulating tumor cells and analyze them from a simple blood draw is extremely exciting.”

Being able to find circulating tumor cells is the key, Moore said. These are rare, living cells that break off from the original tumor. They have an estimated ratio in the blood of one in 100 million to one in one billion. The technology captures the rare cells and allows for genetic analysis in a single tool within a couple of hours.

 

 

Currently, if a person has a suspicious lesion, surgery is necessary to diagnose ovarian cancer, and annually, more than 200,000 people in the U.S. are in this situation. A non-invasive test that predicts malignancy beforehand would enable people with the highest risk to have surgery done by an oncology specialist with greater experience and surgical volume for these types of cases, Moore said.

Masci, a U.S. Navy veteran and esthetician at a local salon, was 46 years old in January 2017 when her cancer was diagnosed.

“I was in such shock,” she said. “Looking back, I did have some symptoms: bloating, my back hurt, weight loss, and when I would sit down to eat I would feel full right away.”

She enrolled in the study a month later, and Moore performed her ovarian cancer surgery.

“I had wonderful care from everyone at Wilmot,” Masci added, “but I can’t say enough good things about Dr. Moore. He needs to clone himself a million times.”

ANGLE Europe Limited funded the study. Moore has worked extensively with the company to test its detection system. Earlier this summer, the FDA gave approval for the same tool to be used to track breast cancer cells that have spread. Moore’s lab was the sole location nationally to test the reproducibility of the breast cancer tests, and local residents were also involved in that clinical trial.

 

Mind your language when diagnosing women with polycystic ovary syndrome

The language used by doctors when diagnosing female patients with polycystic ovary syndrome (PCOS) can negatively impact their wellbeing and how they view their condition later on in life, new research finds.

PCOS is a condition that affects the working of ovaries and can result in a range of physical symptoms (irregular periods or none at all) and metabolic issues (weight gain). Researchers from the University of Surrey found that the use of the word ‘raised’ by practitioners when discussing test results can lead to higher levels of body dissatisfaction and dieting behaviour amongst women, whilst the use of the word ‘irregular’ can result in concerns about fertility.

Jane Ogden, Professor of Health Psychology at the University of Surrey, said: “Diagnostic consultations may take a few minutes, yet how these minutes are managed, what words are used and how this makes a patient feel may change how they make sense of their condition and influence their wellbeing in the longer term. It is important that doctors have an awareness of the words they use and think about how they could be perceived by patients.”

pregnant lady/Commons.wikimedia.org

In one of the first studies of its kind, researchers from Surrey investigated the impact of PCOS diagnostic consultations and if the language used affected the subsequent wellbeing of patients.

To assess the impact, researchers surveyed 147 females with PCOS and asked about their satisfaction with their consultation, the language used during it and their overall wellbeing.

Researchers found that those who had felt uncomfortable with the consultation process were more likely to report poorer body esteem, reduced quality of life and greater concerns about health in later life. Over a quarter of those surveyed were dissatisfied with how doctors managed their distress and were unhappy with the lack of rapport they had with their practitioners.

“Words matter, as patients often replay conversations that they have had with doctors in a bid to make sense of situations. Although words such as ‘raised’ and ‘irregular’ are simple words they are vague which can cause women to worry, as they automatically think the worst, as they have not been provided with all the facts. Such anxiety at the time of diagnosis, can negatively impact how they feel about themselves as their life progresses,” Professor Ogden added.

 

Early puberty may mean less time in education for girls

The age at which girls have their first period may influence how long they stay in education.

The findings come from a study in which researchers have tried to untangle the effect of the age at first period from other complex factors that might affect time spent in education, revealing that young women who start their periods earlier may spend less time in the education system.

Previous research has indicated girls who reach sexual maturity earlier may be more prone to developing depression and, in low and middle income countries, more vulnerable to early pregnancy and negative sexual health outcomes, but whether it affects how long they spend in education was unclear.

Studies trying to pick apart the link between the age at which a girl has her first period — called menarche — and how long they spend in education can be muddied by numerous factors, including obesity, socio-economic status, and parental education level.

Now, a team led by researchers at Imperial College London has tried to untangle this complex relationship by turning to genetic markers as a proxy for the age of first period. Using a statistical method called Mendelian randomization, they attempted to remove the influence of external factors such as diet and lifestyle — which are known to be associated with both early menarche and less time in education.

By using genetic markers known to be associated with menarche, the researchers have revealed an impact of the age of first menstruation on the amount of time spent in education.

“It’s well established that the length of time that someone spends in education can have repercussions later on in life,” said Dr Dipender Gill, a Wellcome Trust Clinical Research Fellow at Imperial and lead author of the study. “It is associated with socio-economic status, rates of depression, risk-taking behaviour and a range of health outcomes, so clearly time spent in education is important. This study identifies that the age of puberty may have an effect on the length of time that women spend in education.”

In the study, published in the journal Behaviour Genetics, researchers looked at data from more than 180,000 European women, where 122 points in the genome where a single ‘letter’ difference in the DNA — called a single nucleotide polymorphism (SNP) — were associated with the onset of menstruation in girls.

The effects of these markers on time spent in education were then estimated using a separate dataset including more than 118,000 women over the age of 30 and of European descent, where participants had provided the number of years spent in education.

Analysis revealed a small but statistically significant causal link between markers for age at menarche and the length of time women spent in education. The findings showed that on average, starting menstruation one year later was associated with approximately an additional 53 days spent in education.

According to the researchers, one possible explanation for the observed effect could be due to young women being treated as more mature due to physical changes, while their emotional development takes time to catch up. Such a delay between physical and mental maturation may give rise to factors which lead to less time spent in education, such as increased risk-taking behaviour, or a failure to adapt psychologically to changes in how they are treated.

The group reports that the data could be skewed by women self-reporting the age they had their first period. In addition, the extended age ranges of women in the study group — born over nine decades (1901 to 1989) — overlaps with societal changes and the establishment of educational programmes. They add that the findings cannot be used to predict how long a young woman might stay in education, based on her age at her first period.

According to the researchers, now that a link has been established, the next step is to work out why age of menarche is having such an effect.

“Once we understand the mechanism, it might give us the opportunity address the discrepancies that we’re seeing,” explained Dr Gill.

“Going through puberty is associated with various physiological and psychological changes,” he adds. “It might be that girls who go through puberty earlier are less well-equipped to deal with the pressures. They may be suffering as a result and this might be manifest in the length of time that they spend in school.”

‘Age at menarche and time spent in education: a Mendelian Randomization study’ by Gill, D. et al, is published in the journal Behavior Genetics.