The search for treatment targets for patients with bile duct cancer, also known as cholangiocarcinoma, has taken a 360 degree turn, offering new hope for patients. That’s according to Mitesh Borad, M.D., deputy director for Center for Individualized Medicine Biomarker Discovery Program at Mayo Clinic’s Arizona campus, Dr. Borad and his colleagues are using new genomic technologies and innovative approaches to data analysis to uncover genetic mutations driving the disease with the goal of developing new targeted therapies.

Genomics opens door to new treatment options    

The bile duct is a network of tubes that connects the liver, gallbladder and small intestine. Each year, 6,000 patients in the U.S. are diagnosed with bile duct cancer. For years, there were limited treatment options for this rare cancer, with fewer than 10% of patients surviving for five or more years.

“In the past, rare cancers like bile duct cancer did not receive the attention or resources to help identify new treatments. As a result, the biology and genetics of this cancer were poorly understood. At the same time, there was a great unmet patient need for more precise therapies with fewer side effects,” explains Dr. Borad.

But over the last decade, Dr. Borad’s team has refined a framework now used around the country to open the door for new treatment options.

Using genetic testing on tissue samples from thousands of patients, the team searched for genetic mutations that may be driving the disease. They uncovered more than 25 genetic mutations that hold the potential to be treated with available targeted therapies or immunotherapies, which harness the power of the patient’s own immune system to fight their cancer.

The Mayo team has also shown that newly developed targeted therapies, known as fibroblast growth factor receptor (FGFR) inhibitors, can shrink bile duct tumors in patients who have mutations in certain FGFR genes. 

“Our initial research in this area is now being validated in larger scale clinical trials, and we hope results will lead to approval for this new treatment approach,” says Dr. Borad.

Liquid biopsies – a simple blood test to detect, treat cancer sooner

Dr. Borad and his colleagues are also developing blood tests, known as liquid biopsies, to detect traces of DNA shed into the bloodstream from cholangiocarcinoma tumors.

As he explains, cholangiocarcinoma can be difficult to diagnose, depending upon where it is located. Frequently, the disease is not diagnosed until it has advanced and spread to other areas of the body.

“Because of the location of cholangiocarcinoma, it can be difficult to obtain a high quality tissue sample with a traditional biopsy. Liquid biopsies offer a faster, non-invasive and lower cost approach to detecting the early signs of cancer or cancer recurrence. They can also identify specific genetic mutations in a patient’s tumor that may be targeted with therapies.”

In one of the largest patient studies to date, the Mayo team used liquid biopsies to analyze tumors from 124 patients with cholangiocarcinoma.

“We identified several genes, 55% of which may have implications for treatment options. This could help patients avoid harmful side effects from an ineffective treatment,” says Dr. Borad.

The team’s next step is to compare the validity of these liquid biopsies against results from traditional tissue biopsies.

For Dr. Borad, this research has been rewarding. As a hematology and oncology fellow at Tulane University, he saw the need for developing new treatments for patients who did not respond to standard therapy or whose cancer returned after treatment.

Committed to finding answers, he spent three years as a Genomics Medicine Scholar at Translational Genomics Research Institute (TGen), joining Mayo Clinic in 2008.

“The new options for patients with bile duct cancer are a perfect example of how precision medicine can make a real difference. In fact, bile duct cancer is one of the gastrointestinal diseases most amenable to a precision medicine approach, offering individualized care based on a patient’s specific needs.”  

The latest advances in cancer care

Hear from Dr. Borad and other researchers and innovators in oncology at Individualizing Medicine 2019 Conference: Precision Cancer Care through Immunotherapy and Genomics on Sept. 20-21, in Scottsdale, Arizona.

Key conference themes include:

• CAR-T therapy
• Clonality
• Pharmacogenomics
• Lineage Plasticity
• National Cancer Institute

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One emerging approach in the diagnosis of cancer is known as a “liquid biopsy.” Instead of using a tiny snippet of tissue to characterize and assess a tumor, liquid biopsies gather information from free-floating material shed by cancer cells—DNA, proteins and even sacs of molecules—that are circulating in the blood.

“Liquid biopsies may offer the opportunity to get information non-invasively about whether cancer is present, what specific genetic mutations exist in the tumor, and even whether the cancer is developing resistance or susceptibility to particular therapies,” says hematologist-oncologist Kabir Mody, M.D. on Mayo Clinic’s Florida campus.

Researchers are exploring how broadly liquid biopsies might be used. In the Journal of Clinical Oncology: Precision Oncology, a Mayo Clinic research team reported the array of cancer-related genetic mutations present in liquid biopsies of bile duct cancer, a form of liver cancer also known as cholangiocarcinoma. “We charted the landscape of genetic alterations present in circulating tumor DNA among patients with cholangiocarcinoma,” explains Dr. Mody, the article’s lead author. The team evaluated liquid biopsies in one of the largest patient cohorts to date: 124 patients with cholangiocarcinoma who were treated across Mayo’s three campuses. “Our findings provide a foundation for further development of liquid biopsies as a way to advance precision medicine for patients with cholangiocarcinoma,” he says.

Cholangiocarcinoma is uncommon in the U.S., where about 5,000 new cases are diagnosed each year, though numbers have been on the rise in recent decades. The cancer is more prevalent in Southeast Asia. However, throughout the world, the five-year survival rate is less than 10 percent. Traditional biopsies are difficult for this cancer because of the accessibility and quality of the tumor tissue. A liquid biopsy could improve the opportunity to diagnosis the cancer early and help individualize treatment.

“Many patients with cholangiocarcinoma have tumors that can be treated with targeted therapies selected for them based on evaluation of the genetic alterations in their own tumor,” says the study’s senior author, hematologist-oncologist Mitesh J. Borad, M.D., on Mayo Clinic’s Arizona campus. “Our study found several genes, 50 percent of which were therapeutically relevant, meaning mutations that may have implications for treatment options, and 25 percent of which are actionable, meaning detecting them could alter the specific treatment a patient receives. This study has significant implications for how researchers and clinicians will approach treating this disease.”

The next stage of research will involve directly comparing liquid biopsies with traditional biopsies of cholangiocarcinoma. “We now know the genetic landscape of circulating tumor DNA in this disease. We’ll next determine if the liquid biopsies are giving us the information we need to evaluate a patient’s cholangiocarcinoma and possibly provide additional treatment options,” Dr. Mody says.

The team worked with researchers at Guardant Health. Other Mayo Clinic authors include Pashtoon M. Kasi, M.D., JuDong Yang, Phani Keerthi Surapaneni, Tanios Bekaii-Saab, M.D., Daniel H. Ahn, D.O., Amit Mahipal, M.B.B.S., Mohamad B. Sonbol, M.D., and Jason S. Starr, D.O.

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On the Mayo Clinic Radio podcast, Dr. Michael Joyner, an anesthesiologist and human performance expert at Mayo Clinic, discusses the most recent exercise guidelines and ways to get people moving. Dr. Joyner also discuss elite athlete performance and the possibility of someone running a marathon in under two hours. Also on the podcast, Dr. Minetta Liu, an oncologist at Mayo Clinic, explains how liquid biopsy may individualize cancer treatments. And Dr. P James Dyck, a neurologist at Mayo Clinic, discusses Guillain-Barré syndrome.

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On the next Mayo Clinic Radio program, Dr. Michael Joyner, an anesthesiologist and human performance expert at Mayo Clinic, will discuss the exercise guidelines and ways to get people moving. Dr. Joyner also will discuss elite athlete performance and the possibility of someone running a marathon in under two hours. Also on the program, Dr. Minetta Liu, an oncologist at Mayo Clinic, will explain how liquid biopsy may individualize cancer treatments. And Dr. P James Dyck, a neurologist at Mayo Clinic, will discuss Guillain-Barré syndrome.

Here's your Mayo Clinic Radio podcast

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According to updated physical fitness guidelines issued recently by the Department of Health and Human Services, less than one-third of Americans — and only 1 in 5 teenagers — are getting the recommended amount of exercise each week. The current recommendation for adults is to get 150 minutes of moderate aerobic activity and two sessions of muscle strengthening per week. For children ages 6–17, 60 minutes per day of moderate aerobic activity and two sessions of muscle strengthening per week is recommended. While the updated guidelines recommend the same amount of exercise as the original standards released in 2008, they don’t require the physical activity to occur in at least 10-minute blocks. The message is every little bit helps.

On the next Mayo Clinic Radio program, Dr. Michael Joyner, an anesthesiologist and human performance expert at Mayo Clinic, will discuss the exercise guidelines and ways to get people moving. Dr. Joyner also will discuss elite athlete performance and the possibility of someone running a marathon in under two hours. Also on the program, Dr. Minetta Liu, an oncologist at Mayo Clinic, will explain how liquid biopsy may individualize cancer treatments. And Dr. P James Dyck, a neurologist at Mayo Clinic, will discuss Guillain-Barré syndrome.

To hear the program, find an affiliate in your area.

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

The post Mayo Clinic Radio: When it comes to exercise, every little bit helps appeared first on Mayo Clinic News Network.

On the next Mayo Clinic Radio program, Dr. Michael Joyner, an anesthesiologist and human performance expert at Mayo Clinic, will discuss the exercise guidelines and ways to get people moving. Dr. Joyner also will discuss elite athlete performance and the possibility of someone running a marathon in under two hours. Also on the program, Dr. Minetta Liu, an oncologist at Mayo Clinic, will explain how liquid biopsy may individualize cancer treatments. And Dr. P James Dyck, a neurologist at Mayo Clinic, will discuss Guillain-Barré syndrome.

To hear the program, find an affiliate in your area.

Miss the show?  Here's your Mayo Clinic Radio podcast.

Use the hashtag #MayoClinicRadio, and tweet your questions.

Mayo Clinic Radio is on iHeartRadio.

Access archived shows or subscribe to the podcast.

Mayo Clinic Radio produces a weekly one-hour radio program highlighting health and medical information from Mayo Clinic.

The post Mayo Clinic Radio: Exercise guidelines / elite athletes / liquid biopsy / Guillain-Barré syndrome appeared first on Mayo Clinic News Network.

ROCHESTER, Minn. — Individualized medicine is tapping the human genome in new ways to attack health care disorders, predict risk of disease, make an earlier diagnosis and identify precise therapies. Individualized medicine, also called precision medicine, uses people's information about their genetic blueprints, lifestyles and environments to shape health care.

On Wednesday, Sept. 12, Keith Stewart, M.B., Ch.B., Carlson and Nelson Endowed Director, Mayo Clinic Center for Individualized Medicine, presented six ways precision medicine has further advanced into patient care over the past year. Dr. Stewart shared these innovations today in his opening welcome to the 2018 "Individualizing Medicine Conference: Advancing Care Through Genomics" in Rochester.

“In the 15 years since the first human genome was mapped, hundreds of thousands of patients have had their DNA sequenced, which has helped pinpoint the cause of disease and respond with individualized treatment,” says Dr. Stewart. “Fifteen years is a very short time in the history of medicine, and there’s still a lot we don’t know. Our research is helping us understand this emerging area of health care and its application to clinical practice. This conference is a great platform for sharing those discoveries.”

Dr. Stewart points to six key ways individualized medicine has advanced patient care over the past year:

1. Genomic testing is moving beyond disease to benefit healthy patients.
The cost of genomic sequencing has dropped sharply, making it possible to consider making DNA sequencing more widely available as a regular, pre-emptive clinical test for most patients. Mayo Clinic is conducting research to learn whether genetic testing of healthy patients might be as useful as a cholesterol test or regular cancer screening.

“We are interested in learning how we can use these tests to predict disease risk and intervene earlier. Further, we are exploring how genetic test results can be entered into the electronic health record in meaningful ways and studying how to improve care without increasing cost,” says Dr. Stewart.

2. Genetic testing is uncovering more hereditary links to cancer.
Research is finding that genetic testing is ushering in a new era of cancer prevention and treatment. DNA tests are identifying inherited genetic mutations ─ even in patients without a strong family history of cancer. A finding of hereditary cancer can influence cancer treatment and alert family members that they, too, should be screened to learn their risk for cancer. Investigators and physicians at Mayo Clinic are recommending expanding genetic testing as a cancer screening tool for all or nearly all cancer patients.

3. Research is advancing DNA blood tests to find and track the course of cancer.
Mayo Clinic has made great strides in developing DNA blood tests, known as liquid biopsies, that can detect the presence of cancer, monitor response to treatment and track recurrence before a tumor appears or returns. The test searches for DNA from cancer cells circulating in the bloodstream. Such blood tests may offer alternatives to X-rays and tissue biopsies, and may have the power to find cancer at an early stage when it is most curable.

 4. Genetically engineered cells that act as living drugs are a new option in cancer care.
Chimeric antigen receptor T-cell (CAR T-cell) therapy seeks to harness the power of each patient’s individual immune system by genetically modifying cells, equipping them with power to kill cancer. These engineered cells multiply and act like a living drug that uses the body’s defense system to fight disease.

 5. Artificial intelligence, also known as augmented human intelligence, is being tapped for individualized diagnosis and treatments.
Artificial intelligence, or augmented human intelligence, combines physician know-how with deep computer analysis to recognize patterns and trends that could lead to an early diagnosis. Machine learning could help radiologists by automatically processing thousands of images generated during an exam and identifying which images may be related to health and disease. Mayo Clinic also is studying ways augmented human intelligence can identify individualized therapies for breast cancer, depression and Alzheimer’s disease.

6. Drug-gene testing is more widely available.
Pharmacogenomics is the area of precision medicine that examines how a person’s genetic makeup influences how the body processes and responds to medications. Mayo Clinic is pre-emptively entering pharmacogenomics test results of more than 11,000 patients into the electronic health record to study how having this information could guide prescribers to safer and more effective medications. This is another step toward making pharmacogenomics testing available for more patients and health conditions.

Dr. Stewart is the Vasek and Anna Maria Polak Professor of Cancer Research Division of Hematology-Oncology, Mayo Clinic.

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About Center for Individualized Medicine
Mayo Clinic Center for Individualized Medicine discovers, translates and applies new findings in genomic research into individualized medicine products and services for patients everywhere. Learn more on the Mayo Clinic Center for Individualized Medicine website.

About Mayo Clinic
Mayo Clinic is a nonprofit organization committed to clinical practice, education and research, providing expert, comprehensive care to everyone who needs healing. Learn more about Mayo Clinic. Visit the Mayo Clinic News Network.

Media Contact:

• Susan Buckles, Mayo Clinic Public Affairs, 507-284-5005, newsbureau@mayo.edu

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ANSWER: A liquid biopsy involves examining cancer-related material (like DNA) from a blood sample. At this time, a liquid biopsy can’t replace a tumor biopsy. But researchers are studying the benefits of, and best uses for, liquid biopsies. They show promise in guiding individualized approaches to cancer management. Eventually, liquid biopsies also may be able to help health care providers screen for some forms of cancer.

Cancer is characterized by cell changes, including mutations and other genetic alterations, which lead to the development of abnormal cells that divide uncontrollably. Identifying the specific alterations associated with a person’s cancer can help health care providers determine the best treatment for that individual.

The diagnosis and characterization of cancers require tissue sampling through a tumor biopsy. This involves taking a sample of the cancerous tissue or cells through an invasive procedure and examining the sample in a lab. Tumor biopsies offer a wealth of information for health care providers to use when developing a cancer treatment plan.

But biopsies have limitations. First, a tumor changes over time as it grows, spreads (metastasizes) and is exposed to anti-cancer medications. That means tumor biopsies taken when the disease is first diagnosed may not reflect the current state of the cancer. Second, repeating biopsies to get updated information about cancer is invasive and associated with potential complications, including pain, infection and bleeding. Third, cancer cells that spread to different areas of the body may differ somewhat from the cancer at the site where it started. As a result, a tumor biopsy from one part of the body is unlikely to adequately represent cancer throughout the body.

Going through multiple biopsy procedures is not practical and can be difficult on patients. Liquid biopsies may offer an alternative for monitoring cancer over time that is less expensive and less invasive, and thus easier to repeat, than tumor biopsies. In addition, genetic material from all sites of disease is released into the circulation, so blood sampling may provide a real-time, representative view of the evolving cancer throughout the body.

Information gained from liquid biopsies should help health care providers select the best therapy for a patient at a given time in the course of metastatic disease. Blood-based monitoring also may indicate the need to switch to a different treatment regimen before changes appear on an imaging exam. In the setting of early-stage cancer, periodically checking the blood for cancer signals after potentially curative therapy could identify patients who are at risk for recurrence. Some research suggests that liquid biopsies may be able to detect when cancer returns long before a tumor reappears. That could lead to earlier intervention and improved survival.

With continued research and technological improvements, the liquid biopsy ultimately may become a tool for cancer screening. Early detection is expected to improve cancer-related outcomes. This is particularly important for those cancers currently without effective methods of screening and prevention.

Although liquid biopsies still are being researched, the potential they offer to provide a new way to monitor the presence of cancer, track cancer’s response to treatment and watch for a recurrence of cancer using a blood test could be a significant step forward in cancer care. — Dr. Minetta C. Liu, Medical Oncology, Mayo Clinic, Rochester, Minnesota

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PHOENIX, Ariz. - Nov. 4, 2015 - A team of researchers, including scientists from the Translational Genomics Research Institute (TGen), has reported that analyzing circulating tumor DNA (ctDNA) can track how a patient's cancer evolves and responds to treatment.

In a study published today in Nature Communications, Dr. Muhammed Murtaza  of TGen and Mayo Clinic, and colleagues, describe an extensive comparison between biopsy results and analysis of ctDNA in a patient with breast cancer. The researchers followed the patient over three years of treatment. "When patients receive therapy for advanced cancers, not all parts of the tumor respond equally, but it has been difficult to study this phenomenon because it is not practical to perform multiple, repeated tissue biopsies," said Dr. Murtaza, Co-Director of TGen's Center for Noninvasive Diagnostics, and one of the study's lead authors. "Our findings empirically show that ctDNA analysis from blood samples allows us to detect cancer mutations from multiple different tumor sites within a patient and track how each of them responds," Dr. Murtaza said.

This type of blood test - known as a liquid biopsy - is less invasive, less costly and less risky than conventional tissue biopsies, which essentially are minor surgeries. Obtaining liquid biopsies could occur more frequently, too, thus providing physicians with up-to-date information about how a patient's cancer might be changing. This, in turn, could help in the selection of the best possible treatments to combat the cancer.

Read more in this news release from TGEN.

Read more about research in Mayo Clinic Center for Individualized Medicine

Journalists: Sound bites with Dr. Murtaza are available in the downloads.

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