Neuroepithelial tumor with AAV integration after intracisternal magna vector delivery
Por: Ahrens-Nicklas, Rebecca C [Autor]
Colaborador(es): Kotch, Chelsea | Roche, Aoife M | Everett, John K | Reddy, Shantan | Santi, Mariarita | Madsen, Peter J | Martos-Rus, CristinaTipo de material: 
TextoIdioma: Inglés Descripción: páginas: 2126-2133Tema(s): TUMOR CEREBRAL | ENFERMEDADES INFANTILES | GENÉTICA GENERAL | NEUROLOGÍA | NEUROCIRUGÍA | PEDIATRÍA
En: The New England Journal of MedicineResumen: 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.
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Títulos de Revistas
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Biblioteca Central ESSALUD | Colección General | NEJM (Navegar estantería) | Vol.394, No.21 (2026) | Disponible | NEJM011 |
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.