Neuroepithelial Tumor with AAV Integration after Intracisternal Magna Vector Delivery.
case_report · Level V
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- Record sourced from PubMed, PMID 42127296.
- Also identified by DOI 10.1056/NEJMoa2601608.
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Abstract
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 <i>PLAG1</i> and expression of a chimeric AAV-PLAG1 transcript.