What is new in intraneural perineurioma?
Acta Neurochir (Wien)
; 165(11): 3539-3547, 2023 11.
Article
em En
| MEDLINE
| ID: mdl-37684428
ABSTRACT
Since the initial description of intraneural (IN) perineurioma in 1964, advances in the understanding of the clinical presentation, diagnostic imaging, pathologic features, and genetic underpinnings have changed how this pathology is managed. IN perineuriomas are rare, benign peripheral nerve sheath tumors, most frequently coming to clinical attention when patients present with painless, progressive weakness or sensory loss in adolescence or young adulthood. The gold standard of diagnosis has traditionally been with targeted tissue biopsy demonstrating "pseudo-onion bulb" formation with positive epithelial membrane antigen (EMA) staining. However, modern magnetic resonance imaging is allowing some patients to forgo biopsy. Recent genetic studies of IN perineuriomas have demonstrated common TRAF7 point mutations and rare NF2 mutations, which may present targets for diagnosis or therapy in the future. Current advances have allowed for us to provide improved patient counseling with informed understanding for various clinical scenarios. With the workup and diagnosis now clearly defined, the next frontier is for improving the lives of patients with IN perineuriomas through the interaction between restoration of functional deficits and advances in our understanding of the genetics of this entity.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias do Sistema Nervoso Periférico
/
Neoplasias de Bainha Neural
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Neoplasias dos Nervos Cranianos
Limite:
Adolescent
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Adult
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Humans
Idioma:
En
Revista:
Acta Neurochir (Wien)
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos