A team of scientists from Mayo Clinic and two other institutions published a study in 2019 that showed the existence of an autoimmune disorder that affects men. The disorder causes the immune system to attack the brain, causing severe neurologic symptoms.

That's what happened to a Florida man, and his search for answers led him to experts at Mayo Clinic.

Reporter Jason Howland has his story.

Watch: Unique neurologic symptoms lead to surprising cancer diagnosis.

Journalists: Broadcast-quality video (2:42) is in the downloads at the end of this post. Please courtesy: "Mayo Clinic News Network." Read the script.

It started with some lightheadedness, loss of balance, vision changes and abnormal eye movements.

"I could be looking at somebody and my eyes are going all over the place," says Gregor Heinrich of Boca Raton, Florida. "It's kind of like you're getting off a merry-go-round, and things are moving all the time."

The 59-year-old knew something wasn't right, so he saw his local doctor.

"And he said, 'I think it's MS, but if it's not MS, we'll probably treat it as MS.' So I wasn't satisfied with that answer," Gregor says.

For more than six months, he searched for second opinions and still no answers.

"I thought maybe it was an ear crystal. I went to a physical therapist. I went to a heart doctor, probably four or five other doctors, and nobody could figure out what was going on," Gregor says.

Eventually, his bloodwork was sent to a special specialized neuroimmunology laboratory at Mayo Clinic in Rochester, Minnesota, for analysis. He then was referred to Dr. Sebastian Lopez, a neurologist at Mayo Clinic in Florida.

"When I first met Dr. Lopez, I remember him coming in the room and said, 'Well, we know what you have,'" Gregor says.

Surprisingly, it was testicular cancer.

"It's probably the last thing you would ever expect to hear," Gregor says.

"When a patient comes in to see a neurologist, they don't expect to be diagnosed with malignancies. But the clinical presentation, the inflammatory findings in the spinal fluid, in addition to the biomarker, the Kelch-11 antibody, was all very helpful to help us narrow down to diagnosis," says Dr. Lopez.

"It was malignant seminoma testicular cancer," Gregor says.

A cancerous tumor near Gregor's spine was creating an abnormal immune response in his nervous system, known as paraneoplastic encephalitis.

"In these rare paraneoplastic disorders, the immune system causes an inflammatory process that leads to neurologic dysfunction," says Dr. Lopez.

"Had it not been for these neurological issues, I would have never known that I had cancer," Gregor says.

The tumor, roughly the size of an egg, was removed on Dec. 12, 2019, at Dr. Lopez's recommendation even though two previous biopsies indicated that the tumor appeared to be benign.

"Fortunately, it was extremely close, by millimeters. It wasn't touching any other organs, and they were able to extract it," Gregor says.

Once a biopsy was conducted on the removed tumor, it reflected that it was actually malignant. Tests were done to locate the cancer source, and surgery to remove the cancer-causing testicle was conducted on Jan. 06, 2020.

Gregor started cancer treatment on Jan. 20, 2020.

"Had this gone untreated for some amount of time, additional, it would have easily spread and caused, certainly, issues that could have resulted in death or much worse conditions," Gregor says.

Today, Gregor is on the road to recovery. Those symptoms that provided the initial clues to his cancer still linger, but they have improved.

"It's a blessing in a way. It is blessing that I've had these neurological symptoms that led me to this," he says.

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Your skin is not only the biggest organ in your body, it’s also the most visible. Dermatology focuses on problems with skin, hair and nails. Conditions range from acne and hair loss to skin cancer. Dermatologists diagnose and treat more than 3,000 conditions. Many dermatological conditions are treated with medication and noninvasive therapy, but some require more invasive treatment, such as surgery.

On the next Mayo Clinic Radio program, Dr. Dawn Davis, a dermatologist at Mayo Clinic, will cover a wide variety of dermatology topics. Also on the program, Dr. Vanda Lennon, an immunologist at Mayo Clinic, will explain how research in Mayo Clinic's Neuroimmunology Laboratory is helping patients get the right diagnosis sooner. And Dr. Douglas Riegert, a medical geneticist at Mayo Clinic, will discuss hereditary cancers and the value of genetic testing.

Here's your Mayo Clinic Radio podcast.

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Vanda Lennon, M.D., Ph.D., and colleagues identified the new biomarker in spinal fluid and blood serum of patients with a neurological disorder called autoimmune meningoencephalomyelitis. The biomarker is an antibody. Antibodies are molecules used by the immune system to fight infections or cancer. When an antibody is directed against healthy tissue by a misguided immune system, as it is in this disorder, it is called an autoantibody. In autoimmune meningoencephalomyelitis, the autoantibody targets a protein called glial fibrillary acidic protein within cells called astrocytes that are found in the brain and spinal cord.

“Headache is a prominent symptom reported by the patients,” says Dr. Lennon, who is senior author on the study. “It is accompanied by neurological findings of varying severity. Inflammatory cells in the spinal fluid and MRI images raise suspicion for brain infection, other inflammatory brain disease or a cancer spreading to the lining of the brain.”

Dr. Lennon notes that this disease rapidly reverses with therapy directed at the immune system, such as prednisone, in contrast to infections that need antibiotics and cancer that requires aggressive treatment. A positive test for glial fibrillary acidic protein autoantibody should bring the correct diagnosis earlier and hasten the most appropriate treatment.

The glial fibrillary acidic protein antibody biomarker initially was identified in Mayo Clinic’s Neuroimmunology Laboratory, which is within the Department of Laboratory Medicine and Pathology. The biomarker was identified using a test developed in the 1960s. The process involves applying a patient’s serum or spinal fluid to thin sections of mouse tissues. If an autoantibody is present, it will stick to the targeted tissue. After the serum or spinal fluid is washed off, a probe in the form of another antibody is applied to the tissue to detect any human antibody that remains bound to the tissue. The probe antibody is tagged with a fluorescent dye. When viewed under a fluorescence microscope, the tagged antibody shows the location of the bound human autoantibody, revealing the cells targeted by the immune system. In this case, the pattern of binding to mouse brain tissue resembles the pattern of abnormalities seen in MRI images of the patients’ brain and spinal cord.

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“That method has been a tremendous tool of discovery as well as a diagnostic tool for the last 35 years since I set up this lab,” says Dr. Lennon. “It had fallen out of fashion about 20 years ago when we were encouraged to use modern molecular techniques. Well, we certainly do use molecular techniques, which are important validation steps, but we did not give up on the valuable older technology as a component of our 21st-century screening protocol to detect informative autoantibodies. In the process, we have continued to discover new autoantibodies of clinical importance.”

With the discovery of this biomarker, Dr. Lennon and the team expect that diagnosis and treatment for patients will improve in another important way. “At this stage, we’ve identified about 103 patients,” says Dr. Lennon. “And about a third of them are turning out to have an unsuspected cancer in a remote part of the body.”

The research team suspects that, because cancer cells and the nervous system use some of the same mechanisms for communication, the immune response that is attacking a cancer is causing collateral damage to the nervous system in the process.

“It appears from evidence to date that the antibody does not itself cause the brain inflammation,” says Dr. Lennon. “It is a proxy marker of a more aggressive component of the immune system called killer T cells, which target the same brain protein.”

The next steps are to verify the glial fibrillary acidic protein autoantibody’s diagnostic performance. At that point, Mayo Clinic’s Neuroimmunology Laboratory anticipates offering this test for diagnostic purposes.

Dr. Lennon’s co-authors are:

• Boyan Fang, M.D., Ph.D., Mayo Clinic
• Andrew McKeon, M.B., B.Ch., M.D., Mayo Clinic
• Shannon Hinson, Ph.D., Mayo Clinic
• Thomas Kryzer, Mayo Clinic
• Sean Pittock, M.D., Mayo Clinic
• Allen Aksamit, M.D., Mayo Clinic

This study was funded by the Mayo Clinic Foundation. Dr. Fang, a visiting associate professor of neurology, was supported by the China Scholarship Council Exchange. The authors and Mayo Clinic in general disclose conflicts of interest related to this research in the published paper.

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