Neurofibromatosis type 1 associated to peripheral nerve sheath and colon malignant tumor

Neurofibromatosis type 1 is a dominant autosomal disease caused by mutation of the neurofibrin gene located in chromosome 17q11.2. This disease presents a variety of clinical manifestations and predisposition to develop tumors, leading to high mortality. We report the case of a patient with neurofib...

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Detalles Bibliográficos
Autores: Valle, Rubén, Valencia, Víctor, Huamán-Muñante, José
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2009
País:Perú
Institución:Universidad Nacional Mayor de San Marcos
Repositorio:Revistas - Universidad Nacional Mayor de San Marcos
Idioma:español
OAI Identifier:oai:revistasinvestigacion.unmsm.edu.pe:article/942
Acceso en línea:https://revistasinvestigacion.unmsm.edu.pe/index.php/anales/article/view/942
Access Level:acceso abierto
Palabra clave:Neurofibromatosis 1
neurofibroma
sarcoma
neoplasias
colon.
neoplasms
Descripción
Sumario:Neurofibromatosis type 1 is a dominant autosomal disease caused by mutation of the neurofibrin gene located in chromosome 17q11.2. This disease presents a variety of clinical manifestations and predisposition to develop tumors, leading to high mortality. We report the case of a patient with neurofibromatosis type 1 diagnosis who developed a malignant tumor of peripheral nerve sheath and colon cancer. The authors review the literature as well as the clinical factors, imaging and histological features associated to neurofibromas malignant transformation.