Inherited mutation in ELP1 predisposes children to medulloblastoma

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April 03, 2020 – Medulloblastoma is the most common malignant pediatric brain tumor. Medulloblastomas are invasive, rapidly growing tumors that, unlike most brain tumors, spread through the cerebrospinal fluid and frequently metastasize to different locations along the surface of the brain and spinal cord. Transcriptional profiling shows the existence of four main subgroups (Wnt, Shh, Group 3, and Group 4), of which the SHH subgroup accounts for about 30% of all pediatric medulloblastoma cases and represents mosty infants with good prognosis. Previous research suggested that this subgroup is affected by genetic predisposition from abnormalities in the germline (inherited) DNA of patients affecting  known genes predisposing to cancer, among them PTCH1/SMO/SUFU mutations, GLI2 amplifications, or MYCN amplifications.

ELP1 normally functions as part of a multi-subunit complex called elongator. Elongator plays a role in regulating translation, the process of translating genetic information into proteins. The present finding supports investigations into how dysregulation of translation contributes to medulloblastoma. So far, ELP1 has not been part of routine genetic testing offered to patients and families, but the present work suggests that it should be included for medulloblastoma. The researchers also found that ELP1 may help guide prognosis. Patients with this mutation tend to do well on currently available therapies. Researchers are continuing to study ELP1 in the laboratory to determine if the identified mutations could be used to tailor medulloblastoma therapy in the future.

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Joseph Gut - thasso Ph.D.; Professor in Pharmacology and Toxicology. Senior expert in theragenomic and personalized medicine and individualized drug safety. Senior expert in pharmaco- and toxicogenetics. Senior expert in human safety of drugs, chemicals, environmental pollutants, and dietary ingredients.

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