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Mayo Clinic researchers identify a measurable genetic mutation as a significant predictor of metastasis and survival in pancreatic cancer

Mayo Clinic researchers identify a measurable genetic mutation as a significant predictor of metastasis and survival in pancreatic cancer

Web Release4 days ago
A new study by Mayo Clinic Comprehensive Cancer Center researchers found that the presence of a specific genetic mutation — KRAS circulating tumor DNA (ctDNA) — strongly indicates a higher risk of cancer spread and worse survival rates for patients with pancreatic ductal adenocarcinoma (PDAC). The mutation was identified using a readily available and clinically approved blood and abdominal fluid test.
PDAC is an aggressive form of cancer that is often difficult to diagnose. Most patients already have cancer spread to other parts of their body when initially diagnosed, and current tests often miss this hidden spread. This makes it challenging to determine the best treatment strategy. The findings, published in the Annals of Surgical Oncology, may help identify patients who are more likely to have cancer spread to other parts of the body, therefore providing doctors and patients with the right information to make informed decisions about treatment.
'This is a major advancement for pancreatic ductal adenocarcinoma,' says Mark Truty, M.D., hepatobiliary and pancreatic surgical oncologist within Mayo Clinic's Department of Surgery. Dr. Truty is senior author of the study. 'We've had this genetic testing available for a number of years, however, we did not know the significance of the results or how to interpret them. Having the KRAS status will allow the patient and their provider to make better decisions about their individual cancer treatment.'
The prospective cohort study, involving nearly 800 patients — the largest patient series to date in the literature using ctDNA — found that 20%-30% of patients with PDAC have detectable mutant KRAS ctDNA in the blood and/or peritoneum, and that those without any previous treatment, such as chemotherapy, had the highest incidence. Thus, the study suggests that ctDNA assays should be performed prior to treatment to have the highest yield.
The researchers examined data between 2018 and 2022. Blood sample tests revealed that 104 patients (14%) had KRAS ctDNA mutation. These patients were more likely to develop advanced, spreading cancer and had a lower survival rate. Further testing of fluid from around the abdominal cavity in 419 patients showed similar results: 123 (29%) had the marker, and these patients also experienced worse outcomes. The presence of this marker, whether in blood or abdominal fluid, indicated a poorer prognosis.
The study highlights that while surgery is the only known cure, most patients experience cancer spread after surgery. The test helps identify patients less likely to benefit from surgery alone, guiding treatment decisions towards chemotherapy and/or radiation before surgery. For patients without the KRAS mutation (approximately 10% of cases), the test is less conclusive and other tests are needed.
'Historically, we've known that KRAS mutations are associated with a more biologically aggressive pancreatic cancer,' says Jennifer Leiting, M.D., hepatobiliary and pancreatic surgeon within Mayo Clinic's Department of Surgery. Dr. Leiting is first author of the study. 'But this large study gives us a much clearer understanding of how to interpret the test results and use them to improve patient care. It allows for more accurate staging at diagnosis, leading to better treatment decisions.'
The researchers suggest that this test should become a standard part of the initial diagnosis for PDAC, enabling more personalized risk stratification and effective treatment plans.
'This improved diagnostic capability offers hope for patients and their families facing this challenging disease,' says Dr. Truty. 'It's optimistic to see how advances in genetic testing are directly helping our patients.'
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Mayo Clinic researchers identify a measurable genetic mutation as a significant predictor of metastasis and survival in pancreatic cancer
Mayo Clinic researchers identify a measurable genetic mutation as a significant predictor of metastasis and survival in pancreatic cancer

Web Release

time4 days ago

  • Web Release

Mayo Clinic researchers identify a measurable genetic mutation as a significant predictor of metastasis and survival in pancreatic cancer

A new study by Mayo Clinic Comprehensive Cancer Center researchers found that the presence of a specific genetic mutation — KRAS circulating tumor DNA (ctDNA) — strongly indicates a higher risk of cancer spread and worse survival rates for patients with pancreatic ductal adenocarcinoma (PDAC). The mutation was identified using a readily available and clinically approved blood and abdominal fluid test. PDAC is an aggressive form of cancer that is often difficult to diagnose. Most patients already have cancer spread to other parts of their body when initially diagnosed, and current tests often miss this hidden spread. This makes it challenging to determine the best treatment strategy. The findings, published in the Annals of Surgical Oncology, may help identify patients who are more likely to have cancer spread to other parts of the body, therefore providing doctors and patients with the right information to make informed decisions about treatment. 'This is a major advancement for pancreatic ductal adenocarcinoma,' says Mark Truty, M.D., hepatobiliary and pancreatic surgical oncologist within Mayo Clinic's Department of Surgery. Dr. Truty is senior author of the study. 'We've had this genetic testing available for a number of years, however, we did not know the significance of the results or how to interpret them. Having the KRAS status will allow the patient and their provider to make better decisions about their individual cancer treatment.' The prospective cohort study, involving nearly 800 patients — the largest patient series to date in the literature using ctDNA — found that 20%-30% of patients with PDAC have detectable mutant KRAS ctDNA in the blood and/or peritoneum, and that those without any previous treatment, such as chemotherapy, had the highest incidence. Thus, the study suggests that ctDNA assays should be performed prior to treatment to have the highest yield. The researchers examined data between 2018 and 2022. Blood sample tests revealed that 104 patients (14%) had KRAS ctDNA mutation. These patients were more likely to develop advanced, spreading cancer and had a lower survival rate. Further testing of fluid from around the abdominal cavity in 419 patients showed similar results: 123 (29%) had the marker, and these patients also experienced worse outcomes. The presence of this marker, whether in blood or abdominal fluid, indicated a poorer prognosis. The study highlights that while surgery is the only known cure, most patients experience cancer spread after surgery. The test helps identify patients less likely to benefit from surgery alone, guiding treatment decisions towards chemotherapy and/or radiation before surgery. For patients without the KRAS mutation (approximately 10% of cases), the test is less conclusive and other tests are needed. 'Historically, we've known that KRAS mutations are associated with a more biologically aggressive pancreatic cancer,' says Jennifer Leiting, M.D., hepatobiliary and pancreatic surgeon within Mayo Clinic's Department of Surgery. Dr. Leiting is first author of the study. 'But this large study gives us a much clearer understanding of how to interpret the test results and use them to improve patient care. It allows for more accurate staging at diagnosis, leading to better treatment decisions.' The researchers suggest that this test should become a standard part of the initial diagnosis for PDAC, enabling more personalized risk stratification and effective treatment plans. 'This improved diagnostic capability offers hope for patients and their families facing this challenging disease,' says Dr. Truty. 'It's optimistic to see how advances in genetic testing are directly helping our patients.'

Mayo Clinic uncovers brain cell changes that could explain Tourette syndrome
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Web Release

time27-06-2025

  • Web Release

Mayo Clinic uncovers brain cell changes that could explain Tourette syndrome

A new Mayo Clinic study finds that people with Tourette syndrome have about half as many of a specific type of brain cell that helps calm overactive movement signals as people without the condition. This deficit may be a key reason why their motor signals go unchecked, leading to the involuntary tics that define the disorder. The study, published in Biological Psychiatry, is the first to analyze individual brain cells from people with Tourette disorder. The findings also shed light on how different types of brain cells may interact in ways that contribute to the syndrome's symptoms. 'This research may help lay the foundation for a new generation of treatments,' says Alexej Abyzov, Ph.D., a genomic scientist in Mayo Clinic's Center for Individualized Medicine and a co-author of the study. 'If we can understand how these brain cells are altered and how they interact, we may be able to intervene earlier and more precisely.' Tourette disorder is a neurodevelopmental condition that typically begins in childhood. It causes repeated, involuntary movements and vocalizations such as eye blinking, throat clearing or facial grimacing. While genetic studies have identified some risk genes, the biological mechanisms behind the condition have remained unclear. To better understand what's happening in the brain with Tourette syndrome, Dr. Abyzov and his team analyzed more than 43,000 individual cells from postmortem brain tissue of people with and without the condition. They focused on the basal ganglia, a region of the brain that helps control movement and behavior. In each cell, they looked at how genes were working. They also analyzed how changes in the brain's gene-control systems might trigger stress and inflammation. First, they found in people with Tourette syndrome a 50% reduction in interneurons, which are brain cells that help calm excess signals in the brain's movement circuits. They also observed stress responses in two other brain cell types. Medium spiny neurons, which make up most of the cells in basal ganglia and help send movement signals, showed reduced energy production. Microglia, the brain's immune cells, showed inflammation. The two responses were closely linked, suggesting the cells may be interacting in Tourette disorder. 'We're seeing different types of brain cells reacting to stress and possibly communicating with each other in ways that could be driving symptoms,' says Yifan Wang, Ph.D., co-author of the study. The study also provides evidence that the underlying cause of brain cell changes in Tourette disorder may be linked to parts of DNA that control when genes turn on and off. 'Tourette patients seem to have the same functional genes as everyone else but the coordination between them is broken,' Dr. Abyzov says. Next, the researchers plan to study how these brain changes develop over time and look for genetic factors that may help explain the disorder.

Want to reduce your heart attack risk? Do this kind of exercise
Want to reduce your heart attack risk? Do this kind of exercise

Gulf Today

time23-06-2025

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Want to reduce your heart attack risk? Do this kind of exercise

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