Malignant peripheral nerve sheath tumor on a patient with a maternally inherited novel NF1 gene pathogenic germline variant: Case report.
Cancer Genet
; 274-275: 72-74, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: covidwho-2317387
ABSTRACT
INTRODUCTION:
Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome caused by pathogenic variants in NF1, which negatively regulates the RAS pathway. Knowledge of the genotype-phenotype correlation in this disease is an important tool for prognostic evaluation and early detection of malignant peripheral nerve sheath tumors (MPNST), present in approximately 10% of these patients. We present the case of a teenager with a left jaw MPNST and a previously unreported germline pathogenic variant on NF1. CASE PRESENTATION An 11-year-old female with a NF1 clinical diagnosis was referred to our hospital with a MPNST in an advanced state. A previously unreported NF1 pathogenic variant was obtained (GRCh37 NM_182493.2 c.3299C>G, p.Ser1100*). Despite great efforts from the surgical and medical teams, the tumor progression couldn't be halted, resulting in the patient's death.DISCUSSION:
As MPNSTs are refractory to current treatment regimens, early diagnosis, and development of new therapies, such as MEK inhibitors, is necessary for reducing morbidity and mortality within NF1 patients. This increases the importance of a more widespread genetic testing strategy.CONCLUSION:
The report of a novel NF1 pathogenic variant in a patient with maternally inherited neurofibromatosis type 1 and a MPNST increases the knowledge of the genotype-phenotype correlation in the disease.Palabras clave
Texto completo:
Disponible
Colección:
Bases de datos internacionales
Base de datos:
MEDLINE
Asunto principal:
Neurofibromatosis 1
/
Neurofibrosarcoma
/
Neoplasias de la Vaina del Nervio
Tipo de estudio:
Reporte de caso
/
Estudios diagnósticos
/
Estudio experimental
/
Estudio pronóstico
Tópicos:
Variantes
Límite:
Niño
/
Femenino
/
Humanos
Idioma:
Inglés
Revista:
Cancer Genet
Año:
2023
Tipo del documento:
Artículo
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