Florida

JACKSONVILLE, Fla. — April 10, 2012.   Mayo Clinic researchers have discovered a new class of molecular mutation in various forms of breast cancer, a finding that may shed new light on development and growth of different types of breast tumors. Called fusion transcripts, the mutated forms of RNA may also provide a way to identify tumor subtypes and offer new strategies to treat them, investigators say. Their study, published in the April 15 issue of Cancer Research, is the first to systematically search for fusion genes and fusion transcripts linked to different types of breast tumors. Oncologists currently recognize three basic types of breast tumors — estrogen-receptor (ER)-positive, HER2-positive, and triple negative. "But breast cancer is much more complex than indicated by these three subtypes, and one of the challenges of treating the disease is to identify gene markers that predict how a tumor will respond to a specific treatment," says senior investigator Edith Perez, M.D., deputy director of the Mayo Clinic Comprehensive Cancer Center in Florida and director of the Breast Cancer Translational Genomics Program, which involves researchers at all three Mayo Clinic campuses. "The discovery of subtype-specific fusion transcripts in breast cancer represents a step in this direction," she says. "Our findings indicate that fusion transcripts are much more common in breast cancer than had been realized. They represent a new class of mutation whose role in breast cancer is not understood at all." "Fusion transcripts have the power to produce proteins that are relevant to tumor development, growth, and sensitivity to treatment, so we may have a brand new set of genomic changes that may help us understand, and treat, breast cancer in a new way," says E. Aubrey Thompson, Ph.D., professor of Biology at Mayo Clinic's Comprehensive Cancer Center, and co-director of the Breast Cancer Translational Genomics Program. "This is a novel discovery that will now require additional investigation," he says. "We need to understand what these fusion transcripts and proteins are doing." Fusion transcripts are created when chromosomes break apart and recombine, an event that commonly occurs in cancer cells. During this process, fusion genes are created when two halves of normal genes become linked. Fusion genes (DNA) create fusion transcripts (RNA), which then produce fusion proteins. "Mistakes are made," Dr. Thompson says. "That is one of the salient properties of tumor cells, because they are defective in repairing damage to their genes." "These mutated proteins may have an entirely new, cancer-promoting function, or they may interfere with normal cellular functions." Fusion transcripts are common in blood cancers, such as leukemia and lymphoma. Before this discovery, however, few were found in solid cancers such as breast tumors. Because fusion genes, transcript, and protein are generally found only in tumors, they make ideal biomarkers to identify tumor cells, Dr. Perez says.

JACKSONVILLE, Fla. — Findings of an extensive investigation at Mayo Clinic, published in the April 3 issue of the Annals of Internal Medicine, serve as a warning to other health care institutions that drug diversion by a health care worker can spread hepatitis C, a potentially fatal viral infection, to patients. The report details the effort that Mayo Clinic in Florida undertook to find the source of a genetically related hepatitis C virus that appeared in three patients over a 2 to 3 year period of time. Investigators eventually traced the source to a radiology technician who was using a portion of narcotics contained within syringes intended for patients, and then replacing the missing fluid with saline. The process contaminated the syringes with hepatitis C. Mayo Clinic then identified 3,929 patients who were at risk for exposure to hepatitis C, and invited them to be screened. Of the 3,444 patients who were tested, two additional cases of genetically related hepatitis C infection attributed to the employee were identified. The report, written by infectious disease experts and epidemiologists at Mayo Clinic, the Florida Department of Health, and the U.S. Centers for Disease Control and Prevention, is the most thoroughly documented instance of hepatitis C transmission caused by drug diversion in an American hospital or clinic, according to the report's lead author, Walter Hellinger, M.D., a health care epidemiologist. Four other instances have been reported to date in the United States and, of these, only one in which narcotic diversion was suspected but not confirmed has been published in a peer-reviewed medical journal, he says. "We owe our patients the best care possible, which meant conducting a thorough, investigation," says Dr. Hellinger, who also serves as chair of Infection Control at the Mayo Clinic campus in Florida.

JACKSONVILLE, Fla. — Researchers have identified a gene that causes adult-onset primary cervical dystonia, an often-painful condition in which patients' necks twist involuntarily. The discovery by a team from the Jacksonville, Fla., campus of Mayo Clinic and the University of Tennessee Health Sciences Center sheds light on a movement disorder that physicians previously could seldom explain. Their research appears in the Annals of Neurology. In 1990, a man with a crooked neck came to see Ryan Uitti, M.D., a neurologist then at Mayo Clinic in Rochester, Minn. Dr. Uitti knew about adult-onset primary cervical dystonia, which results in involuntary twisting of the neck to the left or right, backward or forward. Most people who have it suffer from muscle pain and abnormalities in head position. Some don't think it is all that unusual and may not seek medical help, Dr. Uitti says. "They think they slept wrong at some point, or, because the twisting might straighten out with another maneuver, such as walking backwards, they might actually be accused of being a little crazy," Dr. Uitti says. Dr. Uitti had been taught that there is usually no explanation for the disorder, when it shows up in adulthood. But working with a team of neurologists who have found the genetic causes of other rare conditions, Dr. Uitti began to investigate.

JACKSONVILLE, Fla. — Satilla Health Services, Inc., parent company of Satilla Regional Medical Center, joins with the Jacksonville campus of Mayo Clinic effective March 1. Satilla will be renamed "Mayo Clinic Health System in Waycross." Satilla's integration with Mayo Clinic means health care consumers in Waycross will have access to all of the knowledge and expertise of Mayo Clinic available right in their own community. Satilla and Mayo Clinic have identified several areas in which they share common goals and philosophies, such as preserving and enhancing health care services available to patients in the greater Waycross region. Both organizations are committed to patients receiving the great majority of their health care services in Waycross. The boards of Mayo Clinic and Satilla, as well as the Georgia Attorney General, have approved the integration of the two organizations. At closing, Mayo Clinic will become the sole member, parent organization of Satilla. Kenneth T. Calamia, M.D., currently a physician at Mayo Clinic, has been appointed chief executive officer of Mayo Clinic Health System in Waycross. Robert Trimm, president and chief executive officer of Satilla, has been appointed chief administrative officer of Mayo Clinic Health System in Waycross. "This is a wonderful opportunity to work together with Mayo Clinic in an effort to bring the best health care possible to the people in our surrounding communities," Trimm says. "We're interested in expanding the availability of health care resources locally and ensuring the continuing presence of excellent, community health care for the future."

JACKSONVILLE, Fla. — A research team led by investigators at Mayo Clinic in Florida has found that a small device worn on a patient's brow can be useful in monitoring stroke patients in the hospital. The device measures blood oxygen, similar to a pulse oximeter, which is clipped onto a finger. VIDEO ALERT: Additional audio and video resources, including comments by Dr. Freeman about the new device, are available online. Their study, published in the Feb. 1 issue of Neurosurgical Focus, suggests this tool, known as frontal near-infrared spectroscopy (NIRS), could offer hospital physicians a safe and cost-effective way to monitor patients who are being treated for a stroke, in real time. "About one-third of stroke patients in the hospital suffer another stroke, and we have few options for constantly monitoring patients for such recurrences," says the study's senior investigator, neurocritical care specialist William Freeman, M.D., an associate professor of neurology at Mayo Clinic. "This was a small pilot study initiated at Mayo Clinic's campus in Florida, but we plan to study this device more extensively and hope that this bedside tool offers significant benefit to patients by helping physicians detect strokes earlier and manage recovery better," he says.