TY  - BOOK
AU  - Ahrens-Nicklas, Rebecca C. 
AU  - Kotch, Chelsea 
AU  - Roche, Aoife M. 
AU  - Everett, John K.  
AU  - Reddy, Shantan 
AU  - Santi, Mariarita 
AU  - Madsen, Peter J. 
AU  - Martos-Rus, Cristina 
TI  - Neuroepithelial tumor with AAV integration after intracisternal magna vector delivery
KW  - TUMOR CEREBRAL
KW  - ENFERMEDADES INFANTILES
KW  - GENÉTICA GENERAL
KW  - NEUROLOGÍA
KW  - NEUROCIRUGÍA
KW  - PEDIATRÍA
N2  - 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
ER  -