Pediatric Gliosarcoma With and Without Neurofibromatosis Type 1: A Whole-exome Comparison of 2 Patients.
J Pediatr Hematol Oncol
; 43(8): e1201-e1204, 2021 11 01.
Article
em En
| MEDLINE
| ID: mdl-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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Metilases de Modificação do DNA
/
Neurofibromatose 1
/
Gliossarcoma
/
Proteínas Supressoras de Tumor
/
Enzimas Reparadoras do DNA
/
Exoma
/
Sequenciamento do Exoma
/
Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Pediatr Hematol Oncol
Assunto da revista:
HEMATOLOGIA
/
NEOPLASIAS
/
PEDIATRIA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Tunísia