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  • Title: Pediatric Gliosarcoma With and Without Neurofibromatosis Type 1: A Whole-exome Comparison of 2 Patients.
    Author: Graham RT, Bell EH, Webb A, Zhao Y, Timmers C, Fleming JL, Sells BE, Robison NJ, Palmer JD, Finlay JL, Chakravarti A.
    Journal: J Pediatr Hematol Oncol; 2021 Nov 01; 43(8):e1201-e1204. PubMed ID: 33235140.
    Abstract:
    Gliosarcoma is rare among pediatric patients and among individuals with Neurofibromatosis Type 1 (NF1). Here we compare 2 pediatric gliosarcoma patients, one of whom has NF1. We performed whole-exome sequencing, methylation, and copy number analysis on tumor and blood for both patients. Whole-exome sequencing showed higher mutational burden in the tumor of the patient without NF1. Copy number analysis showed differences in chromosomal losses/gains between the tumors. Neither tumor showed O6-methylguanine-DNA methyltransferase (MGMT) promoter methylation. The NF1 patient survived without progression while the other expired. This is the first reported case of gliosarcoma in a child with NF1.
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