Newswise — ROCHESTER, Minn. — Mayo Clinic Laboratories has launched a first-of-its-kind autoimmune test for the Kelch-like protein 11 antibody, or KLHL11, which is used to detect autoimmune disease associated with testicular cancer. The test is available nationally and internationally.
A 2019 study made the breakthrough discovery of a disease called "testicular cancer-associated paraneoplastic encephalitis." This disease causes severe neurological symptoms in men, where they progressively lose control of their limbs, eye movements and, in some cases, speech. While the disease begins with a testicular tumor, it appears to cause the immune system to attack the brain, leading to numerous misdiagnosed or undiagnosed patients.
"The availability of this test to providers is a first step to ensure accurate diagnosis of this debilitating disease," says Divyanshu Dubey, M.B.B.S., a Mayo Clinic neurologist and laboratory medicine physician. "We want providers to know this autoimmune disease is out there, and we have a tool to diagnose it. Early diagnosis and treatment can help prevent irreversible neurological damage."
Steven Wopperer of Temecula, California, knows firsthand about misdiagnosis for testicular cancer-associated paraneoplastic encephalitis. After struggling for three years to find an answer to his vision and balance problems, the 2019 study published in The New England Journal of Medicine led Wopperer to Mayo Clinic for the test and the subsequent diagnosis of the disease. Now he receives steroids and plasma exchange to stop his symptoms from progressing.
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Since the discovery of the Kelch-like protein 11 antibody, more cases have been identified. With an estimated prevalence of 2.8 per 100,000 men, Kelch-like protein 11 is one of the most common autoantibodies associated with paraneoplastic ataxia in men. As test is now available to order through Mayo Clinic Laboratories, the reference laboratory of Mayo Clinic, more cases are likely to be diagnosed. Once a specimen is sent to Mayo Clinic Laboratories, the testing will be performed in Mayo Clinic's Neuroimmunology Laboratory.
"Annually, our Neuroimmunology Laboratory screens around 200,000 patients for a wide range of autoimmune neurological diseases," says Sean Pittock, M.D., director of Mayo Clinic's Neuroimmunology Laboratory and the Marilyn A. Park and Moon S. Park, M.D., Director of Mayo Clinic's Center for Multiple Sclerosis and Autoimmune Neurology. "Offering this test outside of Mayo Clinic will assist physicians in making the correct diagnosis for their patients, allowing for early initiation of immunotherapy, as well as early detection and treatment for underlying testicular cancers. The test will initially be rolled out as a stand-alone test, but it will soon be incorporated into our comprehensive autoimmune/paraneoplastic movement disorders, and encephalitis serum and spinal fluid evaluations."
The laboratory applies patients' biospecimen samples — serum or cerebrospinal fluid — to thin slices of brain tissue from mice. Some patients with autoimmune neurological diseases harbor antibodies that bind to tissue with a specific pattern of staining. Mayo researchers first came across the "sparkles" staining, the key pattern found in testicular cancer- associated paraneoplastic encephalitis, over two decades ago.
A 2019 collaborative research study by Chan Zuckerberg Biohub, Mayo Clinic and University of California, San Francisco made the breakthrough discovery of testicular cancer-associated paraneoplastic encephalitis.
Dr. Dubey and Dr. Pittock report a patent pending for KLHL11 autoantibodies as a biomarker of paraneoplastic encephalitis associated with testicular cancer.
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