Genomic analysis reveals frequent TRAF7 mutations in intraneural perineuriomas.
Ann Neurol
; 81(2): 316-321, 2017 Feb.
Article
em En
| MEDLINE
| ID: mdl-28019650
ABSTRACT
Intraneural perineuriomas are benign peripheral nerve sheath tumors that cause progressive debilitating focal extremity weakness. The etiology of perineuriomas is largely unknown. We utilized whole exome sequencing, copy number algorithm evaluation, and high-resolution whole genome microarray to investigate for a genetic causal link to intraneural perineuriomas. Ten of 16 (60%) tumor cases had mutations in the WD40 domain of TRAF7, the same location for causal mutations of meningiomas. Two additional perineurioma cases had large chromosomal abnormalities in multiple chromosomes, including chromosome 22q. This study identifies a common cause for intraneural perineuriomas and an unexpected shared pathogenesis with intracranial meningiomas. Ann Neurol 2017;81316-321.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Neoplasias de Bainha Neural
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Peptídeos e Proteínas Associados a Receptores de Fatores de Necrose Tumoral
Tipo de estudo:
Prognostic_studies
Limite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
Ann Neurol
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Mongólia