Examining ELP1
July/August 2020

LONDON—A multi-institute research team recently published a paper in Nature detailing a newly identified culprit in pediatric medulloblastoma. The gene in question, ELP1, is a predisposition gene for the SHH subgroup of pediatric medulloblastoma. In comparing the exomes of medulloblastoma patients with those of individuals without cancer, the team found that the ELP1 gene was mutated in 14 to 15 percent of children with this cancer type. On the bright side, the researchers noted that there is also prognostic potential for this finding, as patients with ELP1 mutations generally respond well to existing therapies.
“ELP1 has not been part of routine genetic testing offered to patients and families, but this work suggests that it should be included for medulloblastoma,” commented co-first author Dr. Giles Robinson of the St. Jude Department of Oncology.

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