Researchers Discover “Testicular Cancer-Associated Paraneoplastic Encephalitis,” an Autoimmune Disease

According to a story from Cancer Health, a team of scientists affiliated with Mayo Clinic, UC San Francisco, and the Chan Zuckerburg Biohub have discovered a new rare, autoimmune disease associated with testicular cancer. The new illness has been dubbed testicular cancer-associated paraneoplastic encephalitis. As with other autoimmune diseases, the illness is triggered by an erratic immune system response that causes it to attack healthy tissue.

About Testicular Cancer

Testicular cancer is a cancer the appears in the testicles. Symptoms often include pain or swelling in the scrotum or a noticeable lump near the testicle. Risk factors include family history or an undescended testicle (cryptorchidism). Most patients can be successfully cured of the disease, but treatment may result in infertility and an increased risk of other health problems. 

The Discovery of Testicular Cancer-Associated Paraneoplastic Encephalitis

This new disease is not a result of treatment and appears while a testicular cancer tumor is present. The presence of the tumor causes the immune system to attack the brain, resulting in serious neurological symptoms. Men with testicular cancer-associated pareneoplastic encephalitis may lose control of their limb and eye movement. Loss of speech is also possible. As the disease was previously undiscovered, anyone affected by it in the past was at best misdiagnosed and more likely undiagnosed, resulting in lack of treatment or treatment delays. 

The researchers were able to discover a unique and diagnostic biomarker for testicular cancer-associated paraneoplastic encephalitis with the utilization of programmable phage display technology. This tool allows for the scanning of up to 700,000 potential autoantibody targets. This technology was used on the cerebrospinal fluid of a patient. This analysis detected autoantibodies geared to target Kelch-like protein 11 (KLHL11). 

This protein is only found in certain areas of the brain and the testes. Further patient samples gathered from the Mayo Clinic served to confirm these findings. The biomarker will be an essential tool for diagnosing testicular cancer patients with this previously undescribed disease. 

Evidence of the existence of this disease has been turning up for years. In fact 20 years ago, a certain staining pattern in Mayo’s Neuroimmunology Lab, which the scientists dubbed “sparkles,” appeared in patients with testicular cancer-associated paraneoplastic encephalitis. However, there was no autoantibody target identified to prove that there was a new disease. 37 patients have been diagnosed so far.

The original study can be found in the New England Journal of Medicine.

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