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- AI just as good at detecting breast cancer as humans: study CTV News
- A review of the machine learning datasets in mammography, their adherence to the FAIR principles and the outlook for the future | Scientific Data Nature.com
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Tag Archives: detection
What COVID variants are in the Inland Northwest? Spokane County Health District expands wastewater testing, detection – The Spokesman Review
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- COVID-19 variants now detected in Spokane’s wastewater | News | kxly.com KXLY Spokane
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Upgraded LIGO Reactivated: Resumes Unraveling Universe’s Secrets With Enhanced Gravitational Wave Detection – SciTechDaily
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Asteroid’s sudden flyby shows blind spot in planetary threat detection
WASHINGTON, Jan 29 (Reuters) – The discovery of an asteroid the size of a small shipping truck mere days before it passed Earth on Thursday, albeit one that posed no threat to humans, highlights a blind spot in our ability to predict those that could actually cause damage, astronomers say.
NASA for years has prioritized detecting asteroids much bigger and more existentially threatening than 2023 BU, the small space rock that streaked by 2,200 miles from the Earth’s surface, closer than some satellites. If bound for Earth, it would have been pulverized in the atmosphere, with only small fragments possibly reaching land.
But 2023 BU sits on the smaller end of a size group, asteroids 5-to-50 meters in diameter, that also includes those as big as an Olympic swimming pool. Objects that size are difficult to detect until they wander much closer to Earth, complicating any efforts to brace for one that could impact a populated area.
The probability of an Earth impact by a space rock, called a meteor when it enters the atmosphere, of that size range is fairly low, scaling according to the asteroid’s size: a 5-meter rock is estimated to target Earth once a year, and a 50-meter rock once every thousand years, according to NASA.
But with current capabilities, astronomers can’t see when such a rock targets Earth until days prior.
“We don’t know where most of the asteroids are that can cause local to regional devastation,” said Terik Daly, a planetary scientist at the Johns Hopkins Applied Physics Laboratory.
The roughly 20-meter meteor that exploded in 2013 over Chelyabinsk, Russia is a once-every-100-years event, according to NASA’s Jet Propulsion Laboratory. It created a shockwave that shattered tens of thousands of windows and caused $33 million in damage, and no one saw it coming before it entered Earth’s atmosphere.
Some astronomers consider relying only on statistical probabilities and estimates of asteroid populations an unnecessary risk, when improvements could be made to NASA’s ability to detect them.
“How many natural hazards are there that we could actually do something about and prevent for a billion dollars? There’s not many,” said Daly, whose work focuses on defending Earth from hazardous asteroids.
AVOIDING A REALLY BAD DAY
One major upgrade to NASA’s detection arsenal will be NEO Surveyor, a $1.2 billion telescope under development that will launch nearly a million miles from Earth and surveil a wide field of asteroids. It promises a significant advantage over today’s ground-based telescopes that are hindered by daytime light and Earth’s atmosphere.
That new telescope will help NASA meet a goal assigned by Congress in 2005: detect 90% of the total expected amount of asteroids bigger than 140 meters, or those big enough to destroy anything from a region to an entire continent.
“With Surveyor, we’re really focusing on finding the one asteroid that could cause a really bad day for a lot of people,” said Amy Mainzer, NEO Surveyor principal investigator. “But we’re also tasked with getting good statistics on the smaller objects, down to about the size of the Chelyabinsk object.”
NASA has fallen years behind on its congressional goal, which was ordered for completion by 2020. The agency proposed last year to cut the telescope’s 2023 budget by three quarters and a two-year launch delay to 2028 “to support higher-priority missions” elsewhere in NASA’s science portfolio.
Asteroid detection gained greater importance last year after NASA slammed a refrigerator-sized spacecraft into an asteroid to test its ability to knock a potentially hazardous space rock off a collision course with Earth.
The successful demonstration, called the Double Asteroid Redirection Test (DART), affirmed for the first time a method of planetary defense.
“NEO Surveyor is of the utmost importance, especially now that we know from DART that we really can do something about it,” Daly said.
“So by golly, we gotta find these asteroids.”
Reporting by Joey Roulette; Editing by Andrea Ricci
Our Standards: The Thomson Reuters Trust Principles.
Asteroid’s sudden flyby shows blind spot in planetary threat detection
By Joey Roulette
WASHINGTON (Reuters) – The discovery of an asteroid the size of a small shipping truck mere days before it passed Earth on Thursday, albeit one that posed no threat to humans, highlights a blind spot in our ability to predict those that could actually cause damage, astronomers say.
NASA for years has prioritized detecting asteroids much bigger and more existentially threatening than 2023 BU, the small space rock that streaked by 2,200 miles from the Earth’s surface, closer than some satellites. If bound for Earth, it would have been pulverized in the atmosphere, with only small fragments possibly reaching land.
But 2023 BU sits on the smaller end of a size group, asteroids 5-to-50 meters in diameter, that also includes those as big as an Olympic swimming pool. Objects that size are difficult to detect until they wander much closer to Earth, complicating any efforts to brace for one that could impact a populated area.
The probability of an Earth impact by a space rock, called a meteor when it enters the atmosphere, of that size range is fairly low, scaling according to the asteroid’s size: a 5-meter rock is estimated to target Earth once a year, and a 50-meter rock once every thousand years, according to NASA.
But with current capabilities, astronomers can’t see when such a rock targets Earth until days prior.
“We don’t know where most of the asteroids are that can cause local to regional devastation,” said Terik Daly, a planetary scientist at the Johns Hopkins Applied Physics Laboratory.
The roughly 20-meter meteor that exploded in 2013 over Chelyabinsk, Russia is a once-every-100-years event, according to NASA’s Jet Propulsion Laboratory. It created a shockwave that shattered tens of thousands of windows and caused $33 million in damage, and no one saw it coming before it entered Earth’s atmosphere.
Some astronomers consider relying only on statistical probabilities and estimates of asteroid populations an unnecessary risk, when improvements could be made to NASA’s ability to detect them.
“How many natural hazards are there that we could actually do something about and prevent for a billion dollars? There’s not many,” said Daly, whose work focuses on defending Earth from hazardous asteroids.
AVOIDING A REALLY BAD DAY
One major upgrade to NASA’s detection arsenal will be NEO Surveyor, a $1.2 billion telescope under development that will launch nearly a million miles from Earth and surveil a wide field of asteroids. It promises a significant advantage over today’s ground-based telescopes that are hindered by daytime light and Earth’s atmosphere.
That new telescope will help NASA meet a goal assigned by Congress in 2005: detect 90% of the total expected amount of asteroids bigger than 140 meters, or those big enough to destroy anything from a region to an entire continent.
“With Surveyor, we’re really focusing on finding the one asteroid that could cause a really bad day for a lot of people,” said Amy Mainzer, NEO Surveyor principal investigator. “But we’re also tasked with getting good statistics on the smaller objects, down to about the size of the Chelyabinsk object.”
NASA has fallen years behind on its congressional goal, which was ordered for completion by 2020. The agency proposed last year to cut the telescope’s 2023 budget by three quarters and a two-year launch delay to 2028 “to support higher-priority missions” elsewhere in NASA’s science portfolio.
Asteroid detection gained greater importance last year after NASA slammed a refrigerator-sized spacecraft into an asteroid to test its ability to knock a potentially hazardous space rock off a collision course with Earth.
The successful demonstration, called the Double Asteroid Redirection Test (DART), affirmed for the first time a method of planetary defense.
“NEO Surveyor is of the utmost importance, especially now that we know from DART that we really can do something about it,” Daly said.
“So by golly, we gotta find these asteroids.”
(Reporting by Joey Roulette; Editing by Andrea Ricci)
Cancer blood test using DNA fragments brings hope for earlier detection, say researchers
Researchers have developed a new machine-learning model to detect cancers that are in their early stages of disease by examining DNA fragments from cancer cells in the blood.
A University of Wisconsin–Madison research team was able to detect cancer in the bloodstream in most of the samples tested, it said.
Muhammed Murtaza, professor of surgery at the UW School of Medicine and Public Health based in Madison, Wisconsin, led the study, which was published recently in Science Translational Medicine, a medical journal from the American Association for the Advancement of Science, according to the study’s press release.
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“We’re incredibly excited to discover that early detection and monitoring of multiple cancer types are potentially feasible using such a cost-effective approach,” said Murtaza in the press release.
Earlier detection of many cancers will lead to better outcomes for patients, the release noted.
“We’re incredibly excited to discover that early detection and monitoring of multiple cancer types are potentially feasible using such a cost-effective approach,” says the lead author of a new study.
(iStock)
Although other scientists are also developing blood tests to detect cancer earlier, the present technology has limitations, such as cost and the “sensitivity” of the test.
Sensitivity, in this case, refers to the ability of the test to correctly detect the presence of cancer, according to the Centers for Disease Control and Prevention (CDC).
How is the test done?
When cells die as part of the body’s natural process of cell turnover, fragments of DNA are released outside the cells. These start to circulate in the bloodstream — namely, the plasma, which is the liquid portion of the blood, according to the researchers.
“It should be focused on patients that have significant family histories or personal risk factors, or that have genetic syndromes that are associated with getting multiple cancers.”
The research team hypothesized that cancer cells have DNA fragments that are different from healthy cells, specifically where the DNA strands “break.” Nucleotides, which are the “building blocks of DNA,” surround these break points.
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The research team used a special technique that the study named Genome-wide AnaLYsis of FRagment Ends — or GALYFRE — to analyze the “cell-free” DNA from 521 samples.
For a new study, a research team at the University of Wisconsin-Madison also “sequenced” data from an additional 2,147 samples from two groups of people: healthy individuals — and patients with 11 different cancer types.
(iStock)
The team also “sequenced” data from an additional 2,147 samples from two groups of people: healthy individuals, and patients with 11 different cancer types.
“Sequencing DNA means determining the order of the four chemical building blocks — called “bases” — that make up the DNA molecule,” according to the National Institutes of Health’s website on human genome research.
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“The sequence tells scientists the kind of genetic information that is carried in a particular DNA segment.”
The research team then used these analyses to develop a metric that could reflect the proportion of DNA molecules that were from cancer in each sample.
Machine-learning model
They combined this measure with the genetic information found on the DNA fragments to develop a model that trains a machine to compare DNA fragments from healthy cells to DNA fragments from different types of cancer cells.
“The sequence tells scientists the kind of genetic information that is carried in a particular DNA segment.”
This model differentiated people with cancer at any stage of their diagnosis from people without cancer 91% of the time.
It also “accurately identified samples from patients with stage 1 cancer in 87% of cases, suggesting it holds promise for detecting cancer in early stages,” per the release.
The research team hopes to perform more clinical studies to validate the blood test for specific cancers, such as pancreatic cancer and breast cancer.
(iStock)
The study, however promising, notes that more research is needed to apply GALYFRE’s use for patients in different age groups and those who have multiple medical problems.
Refinement needed for future
The research team hopes to perform more clinical studies to validate the blood test for specific cancers, such as pancreatic cancer and breast cancer.
“One direction we are taking is refining GALYFRE to make it even more accurate for some patients who are at risk of developing specific types of cancers,” Murtaza noted in the release.
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His team is also looking to see if this technology can be used not only for earlier detection of cancers, but also for monitoring how chemotherapy patients respond to cancer treatments.
Researchers hope that “this work will lead to a blood test for cancer detection and monitoring that will be available clinically in the next 2-5 years for at least some conditions.”
“I find that using cell-free DNA and a liquid biopsy will be most useful for patients with a known cancer diagnosis and [for] post treatment to monitor for disease recurrence — avoiding the need for [high-risk] biopsy,” Dr. Oren N. Gottfried, professor at Duke University School of Medicine in Durham North Carolina, told Fox News Digital.
“This is particularly true with brain cancer, where each brain biopsy includes considerable risk,” added Gottfried, who is also a neurosurgeon.
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“In general as a screening tool, I feel it should be focused on patients that have significant family histories or personal risk factors, or that have genetic syndromes that are associated with getting multiple cancers.”
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Murtaza of the UW School of Medicine and Public Health hopes with further research and development that “this work will lead to a blood test for cancer detection and monitoring that will be available clinically in the next 2-5 years for at least some conditions — and ultimately be accessible for patients with limited health care resources in the U.S. and around the world,” he said in the news release.
US cancer death rate drops 33% since 1991, partly due to advances in treatment, early detection and less smoking, new report says
CNN
—
The rate of people dying from cancer in the United States has continuously declined over the past three decades, according to a new report from the American Cancer Society.
The US cancer death rate has fallen 33% since 1991, which corresponds to an estimated 3.8 million deaths averted, according to the report, published Thursday in CA: A Cancer Journal for Clinicians. The rate of lives lost to cancer continued to shrink in the most recent year for which data is available, between 2019 and 2020, by 1.5%.
The 33% decline in cancer mortality is “truly formidable,” said Karen Knudsen, chief executive officer of the American Cancer Society.
The report attributes this steady progress to improvements in cancer treatment, drops in smoking and increases in early detection.
“New revelations for prevention, for early detection and for treatment have resulted in true, meaningful gains in many of the 200 diseases that we call cancer,” Knudsen said.
In their report, researchers from the American Cancer Society also pointed to HPV vaccinations as connected to reductions in cancer deaths. HPV, or human papillomavirus, infections can cause cervical cancer and other cancer types, and vaccination has been linked with a decrease in new cervical cancer cases.
Among women in their early 20s, there was a 65% drop in cervical cancer rates from 2012 through 2019, “which totally follows the time when HPV vaccines were put into use,” said Dr. William Dahut, the society’s chief scientific officer.
“There are other cancers that are HPV-related – whether that’s head and neck cancers or anal cancers – so there’s optimism this will have importance beyond this,” he said.
The lifetime probability of being diagnosed with any invasive cancer is estimated to be 40.9% for men and 39.1% for women in the US, according to the new report.
The report also includes projections for 2023, estimating that there could be nearly 2 million new cancer cases – the equivalent of about 5,000 cases a day – and more than 600,000 cancer deaths in the United States this year.
During the early days of the Covid-19 pandemic, many people skipped regular medical exams, and some doctors have seen a rise in advanced cancer cases in the wake of pandemic-delayed screenings and treatment.
The American Cancer Society researchers were not able to track “that reduction in screening that we know we all observed across the country during the pandemic,” Knudsen said. “This time next year, I believe our report will give some initial insight into what the impact was in the pandemic of cancer incidence and cancer mortality.”
The new report includes data from national programs and registries, including those at the National Cancer Institute, the US Centers for Disease Control and Prevention and the North American Association of Central Cancer Registries.
Data showed that the US cancer death rate rose during most of the 20th century, largely due to an increase in lung cancer deaths related to smoking. Then, as smoking rates fell and improvements in early detection and treatments for some cancers increased, there was a decline in the cancer death rate from its peak in 1991.
Since then, the pace of the decline has slowly accelerated.
The new report found that the five-year relative survival rate for all cancers combined has increased from 49% for diagnoses in the mid-1970s to 68% for diagnoses during 2012-18.
The cancer types that now have the highest survival rates are thyroid at 98%, prostate at 97%, testis at 95% and melanoma at 94%, according to the report.
Current survival rates are lowest for cancers of the pancreas, at 12%.
The finding about a decreasing cancer death rate shows “the continuation of good news,” said Dr. Otis Brawley, an oncology professor at Johns Hopkins University who was not involved in the research.
“The biggest reason for the decline that started in 1991 was the prevalence of smoking in the United States started going down in 1965,” said Brawley, a former chief medical officer of the American Cancer Society.
“That’s the reason why we started having a decline in 1991, and that decline has continued because the prevalence of people smoking in the United States has continued to go down,” he said. “Now, in certain diseases, our ability to treat has improved, and there are some people who are not dying because of treatment.”
Although the death rate for cancer has been on a steady decline, the new report also highlights that new cases of breast, uterine and prostate cancer have been “of concern” and rising in the United States.
Incidence rates of breast cancer in women have been increasing by about 0.5% per year since the mid-2000s, according to the report.
Uterine corpus cancer incidence has gone up about 1% per year since the mid-2000s among women 50 and older and nearly 2% per year since at least the mid-1990s in younger women.
The prostate cancer incidence rate rose 3% per year from 2014 through 2019, after two decades of decline.
Knudsen called prostate cancer “an outlier” since its previous decline in incidence has reversed, appearing to be driven by diagnoses of advanced disease.
On Thursday, the American Cancer Society announced the launch of the Impact initiative, geared toward improving prostate cancer incidence and death rates by funding new research programs and expanding support for patients, among other efforts.
“Unfortunately, prostate cancer remains the number one most frequently diagnosed malignancy amongst men in this country, with almost 290,000 men expected to be diagnosed with prostate cancer this year,” Knudsen said. Cancer diagnosed when it is confined to the prostate has a five-year survival rate of “upwards of 99%,” she said, but for metastatic prostate cancer, there is no durable cure.
“Prostate cancer is the second leading cause of cancer death for men in this country,” she said. “What we’re reporting is not only an increase in the incidence of prostate cancer across all demographics but a 5% year-over-year increase in diagnosis of men with more advanced disease. So we are not catching these cancers early when we have an opportunity to cure men of prostate cancer.”
Breast, uterine and prostate cancers also have a wide racial disparity, in which communities of color have higher death rates and lower survival rates.
In 2020, the risk of overall cancer death was 12% higher in Black people compared with White people, according to the new report.
“Not every individual or every family is affected equally,” Knudsen said.
For instance, “Black men unfortunately have a 70% increase in incidence of prostate cancer compared to White men and a two- to four-fold increase in prostate cancer mortality as related to any other ethnic and racial group in the United States,” she said.
The data in the new report demonstrates “important and consistent” advances against cancer, Dr. Ernest Hawk, vice president of cancer prevention and population sciences at the University of Texas MD Anderson Cancer Center, said in an email.
“Cancer is preventable in many instances and detectable at an early stage with better outcomes in many others. When necessary, treatments are improving in both their efficacy and safety. That’s all great news,” Hawk wrote.
“However, it’s well past time for us to take health inequities seriously and make them a much greater national priority. Inequities in cancer risks, cancer care and cancer outcomes are intolerable, and we should not be complacent with these regular reminders of avoidable inequities,” he said. “With deliberate and devoted effort, I believe we can eliminate these disparities and make even greater progress to end cancer.”
Toward Early Detection of the Pathological Social Withdrawal Syndrome Known as ‘Hikikomori’
Summary: Hikikomori is a complex condition where a person withdraws from society and remains isolated at home for more than six months. The condition is becoming more prevalent in Western societies. Researchers have developed a new method designed to help detect hikikomori at an earlier stage and provide treatment.
Source: Kyushu University
Kyushu University researchers have developed a new ‘Hikikomori Questionnaire’ in an effort to detect the condition at an earlier stage.
Preliminary results show that isolation is a possible factor that can distinguish between non-hikikomori and pre-hikikomori individuals, providing possible validation of the new questionnaire as a tool for early detection and treatment.
Hikikomori is a complex pathological condition where an individual withdraws from society and remains at home almost every day for more than six months. Although it may be viewed as a condition unique to Japan, hikikomori has been reported globally from across Asia, to Europe and North America.
“Hikikomori was first defined in 1998. As we studied the condition, we found that it is a very complex pathology caused by an overlap of physical, societal, and psychological conditions,” explains Takahiro A. Kato of Kyushu University’s Faculty of Medical Sciences and first author of the study.
“Its growing international recognition has put hikikomori into the purview of many researchers and medical professionals, especially on the heels of the years long COVID-19 pandemic. Just this year, Hikikomori was recognized in the revised edition of the DSM-5.”
Kato and his team have been working on measures to evaluate, identify, and treat hikikomori patients, to the point of opening the world’s first outpatient clinic for hikikomori individuals in 2013. In 2018, the team developed the ‘Hikikomori Questionnaire,’ or HQ-25, that was design to assess whether individuals under social withdrawal after six months are symptomatic of hikikomori.
“This questionnaire allowed us to identify symptomatic individuals with hikikomori. As our work progressed, we found that we needed an assessment tool that could evaluate symptomatic individuals at an earlier stage to help detect and potentially prevent hikikomori,” continues Kato.
The new Hikikomori Questionnaire, or HQ-25M—made in collaboration with Nihon University and Oregon Health and Science University—is composed of 25 questions that evaluate the three subfactors of socialization, isolation, and emotional support on a scale to 0–4, 4 being ‘strongly agree.’
For example, questions such as ‘I feel uncomfortable around other people’ gauge socialization, while ‘there are few people I can discuss important issues with’ covers emotional support.
The pilot test of the new questionnaire, reported in Psychiatry and Clinical Neurosciences, was conducted with 762 Japanese individuals. The questionnaire first asked about the individual’s social withdrawal status in the prior month in order to categorize participants into hikikomori, non-hikikomori, and pre-hikikomori groups. The team also added a questionnaire that evaluates the individual’s psychological distress during the same month.
“We analyzed the data to see any comparable differences between the different category groups,” explains Kato. “Multiple models showed us that hikikomori groups scored significantly higher on all metrics compared to non- and pre-hikikomori.”
Interestingly, between the pre- and non-hikikomori respondents, of all the three subfactors that were measured, the isolation subfactor was the only one that showed a significant difference in scores.
While still preliminary, the team is pleased with their initial findings and plans to use them to improve their questionnaire and data collecting.
“These initial findings are promising and show that our questionnaire may be a good tool for early detection of hikikomori,” concludes Kato.
“Nonetheless, we have to work on expanding and diversifying our sample size and fine tune our questions. Moreover, since the hikikomori pathology is being reported around the world, we must work with researchers and patients outside of Japan.”
See also
About this psychology research news
Author: Press Office
Source: Kyushu University
Contact: Press Office – Kyushu University
Image: The image is in the public domain
Original Research: Open access.
“One month version of Hikikomori Questionnaire‐25 ( HQ‐25M ): Development and initial validation” by Takahiro A. Kato et al. Psychiatry and Clinical Neurosciences
Abstract
One month version of Hikikomori Questionnaire‐25 ( HQ‐25M ): Development and initial validation
Hikikomori is a pathological condition of social withdrawal in which a person remains at home almost every day for more than 6 months.
Although first observed in Japan, hikikomori is described around the world, causing serious impacts on healthcare, welfare, and the economy.
The COVID-19 pandemic has further led to social isolation at home to avoid the risk of infection, and perhaps increased the number of people with hikikomori-like conditions. The 25-item Hikikomori Questionnaire (HQ-25) was designed to assess social withdrawal after at least 6 months of symptoms.
However, assessment tools that can quickly evaluate social withdrawal at an earlier stage are needed to help detect and potentially prevent hikikomori. Therefore, we herein developed a modified version of the HQ-25 to assess the prior 1 month and preliminarily examined its validity.
‘Ground Breaking’ Patient Who Survived 12 Different Types of Cancer Could Hold Key to Detection and Treating
A unique patient who has survived a dozen different types of cancer tumors over a lifetime could provide the key for researchers to develop new early detection and immunotherapy treatments, say scientists.
A cancer diagnosis can change someone’s life, but 12 is nothing that any of us could probably comprehend.
The course of this individual’s life has been nothing short of extraordinary. They first developed a tumor when almost still a baby, followed by others every few years. In less than forty years of life, the patient has developed twelve tumors, at least five of them malignant, each in a different part of the body.
Despite this death sentence as most would see it, the patient’s immune system seems to be supercharged, and capable of producing anti-inflammatory responses strong enough to fight off all these various cancers.
When the patient first came to Spain’s National Center for Investigative Oncology (CNIO), a blood sample was taken to sequence the genes most frequently involved in hereditary cancer, but no alteration was detected in them. The researchers then analyzed the individual’s entire genome and found mutations in a gene called MAD1L1.
This gene is essential in the process of cell division and proliferation. CNIO researchers analyzed the effect of the mutations detected, and concluded that they cause alterations in the number of chromosomes in the cells—all cells in the human body have 23 pairs of chromosomes.
In animal models, it has been observed that when there are mutations in both copies of this gene—each coming from one parent—the embryo dies. To the astonishment of the researchers, the person in this case has mutations in both copies but has survived—something that has simply never been seen before.
“Academically we cannot speak of a new syndrome because it is the description of a single case, but biologically it is,” said co-author of the study, Miguel Urioste from CNIO.
“Other genes whose mutations alter the number of chromosomes in cells are known, but this case is different because of the aggressiveness, the percentage of aberrations it produces and the extreme susceptibility to a large number of different tumors.”
It is the hypothesis of the reporting authors that the constant production of these double-mutated copies has created a chronic immune system defense to these types of cells, which helps tumors disappear more quickly.
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The discovery that the immune system is capable of unleashing a defensive response against cells with the wrong number of chromosomes is, according to the authors, “one of the most important aspects of this study, which may open up new therapeutic options in the future.” Seventy percent of human tumors have cells with an abnormal number of chromosomes.
Furthermore, this literally one-of-a-kind person could pave the way for better diagnoses.
An individual cell by cell analysis of the patient and some relatives who have single mutations of the MAD1L1 gene revealed, among other anomalies, that the blood cells contained several hundred chromosomally identical lymphocytes, thus coming from a single, rapidly proliferating cell.
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Lymphocytes are defensive cells that attack specific invaders; sometimes, however, a lymphocyte proliferates too much and spreads to form a tumor. That is the process which in this work the single-cell analysis would be capturing: the earliest stages of a cancer.
Based on this finding, the researchers propose in their paper that single-cell analysis can be used to identify cells with tumor potential long before the appearance of clinical symptoms or markers observable in analytical tests.
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