Ahrens-Nicklas, Rebecca C. creator Autor Kotch, Chelsea Roche, Aoife M. Everett, John K. Reddy, Shantan Santi, Mariarita Madsen, Peter J. Martos-Rus, Cristina text pe monographic spa eng

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páginas: 2126-2133 Recombinant adeno-associated virus (AAV) vectors are predominantly nonintegrating, but rare genomic integration events have been associated with oncogenesis in neonatal murine models. Here we report a case of a neuroepithelial tumor that developed in a 5-year-old boy with severe mucopolysaccharidosis type I (MPSI, Hurler subtype) 4 years after intracisternal magna administration of AAV serotype 9 gene therapy. The patient underwent successful resection of the primary tumor. Postoperatively, he has continued to have advanced cognitive function for his age, a finding that indicates mitigation of MPSI. Molecular analysis of the tumor showed clonal integration of rearranged AAV vector elements into the gene PLAG1 and expression of a chimeric AAV-PLAG1 transcript. TUMOR CEREBRAL ENFERMEDADES INFANTILES GENÉTICA GENERAL NEUROLOGÍA NEUROCIRUGÍA PEDIATRÍA Massachusetts NEJM Group NEJM011 0028-4793 ESSALUD BMG 20260820162144.0 ESSALUD