Malignant Transformation of a Desmoplastic Infantile Ganglioglioma in an Infant Carrier of a Nonsynonymous TP53 Mutation

摘要: Abstract Introduction Desmoplastic infantile ganglioglioma is a rare intracranial neoplasm classified as World Health Organization grade I tumor under neuronal and mixed neuronal-glial tumors (2007 brain classification). It usually good prognosis, but 40% of patients require further medical, radiation, and/or surgical intervention, 15% develop leptomeningeal spread or die from desmoplastic ganglioglioma. Transformation to malignant glioblastoma occurs, the genetic alterations associated with transformation are generally unknown. Methods We describe in 2-month-old boy, which showed aggressive behavior, requiring debulking at 2.5 months age chemotherapy 10 after progression. At 8.5 years he developed glioblastoma. Chromosome microarray analysis using oligo array genomic sequencing was performed on biopsy specimen 2 subsequent transformed Results After being clinically stable for 7.5-years, occurred. He did well 1 year subsequently died obtained 2 months not reveal significant abnormalities; there were deletions duplications These included multiple losses involving 4q Y, gains 5q, amplification 12q14. Genomic revealed single nucleotide variant, p.R248Q exon 7 TP53 , primary multiforme. Conclusions The nonsynonymous variant (p.R248Q 7) gene predicted alter structure L2/L3 motif DNA binding domain p53 protein. detected This child illustrates recurrence caused by mutation, providing explanation other benign transformations. known site alteration that predisposes tumors, this case indicates it might also be involved behavior outcome Therefore more genetic testing recommended may provide biologic prognostic markers.