Pediatric Gliosarcoma With and Without Neurofibromatosis Type 1: A Whole-exome Comparison of 2 Patients

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...

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Bibliographic Details
Published inJournal of pediatric hematology/oncology Vol. 43; no. 8; p. e1201
Main Authors Graham, Richard T, Bell, Erica H, Webb, Amy, Zhao, Yue, Timmers, Cynthia, Fleming, Jessica L, Sells, Blake E, Robison, Nathan J, Palmer, Joshua D, Finlay, Jonathan L, Chakravarti, Arnab
Format Journal Article
LanguageEnglish
Published United States 01.11.2021
Subjects
Child
DNA Modification Methylases - genetics
DNA Repair Enzymes - genetics
Exome
Female
Gliosarcoma - complications
Gliosarcoma - genetics
Gliosarcoma - pathology
Humans
Male
Mutation
Neurofibromatosis 1 - complications
Neurofibromatosis 1 - genetics
Neurofibromatosis 1 - pathology
Prognosis
Promoter Regions, Genetic
Tumor Suppressor Proteins - genetics
Whole Exome Sequencing - methods
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Summary: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.
ISSN:1536-3678
DOI:10.1097/MPH.0000000000002020