RESUMEN

Neurofibromatosis type 1 (NF1; OMIM#162200) is a common neurocutaneous disorder that is characterized by multiple café-au-lait, skinfold freckling, Lisch nodules, and neurofibromas. Mutations in the NF1 gene, which encodes the neurofibromin protein, have been identified as the pathogenic gene of NF1. In this study, we present a clinical and molecular study of a Chinese patient with giant café-au-lait in NF1. The patient showed >6 café-au-lait spots on the body, axillary freckling, and multiple subcutaneous neurofibromas. He also had a malignant peripheral nerve sheath tumor and bone abnormalities. The germline mutational analysis of the NF1 gene revealed a novel missense mutation in exon 13. It is a novel heterozygous nucleotide G>A transition at position 2241 of the NF1 gene. We found no mutation in malignant peripheral nerve sheath tumor DNA from this patient. This expands the database for NF1 gene mutations in NF1. Its absence in the normal chromosomes suggests that it is responsible for the NF1 phenotype. To our knowledge, this is the first case of giant café-au-lait macule in NF1 associated with a malignant peripheral nerve sheath tumor and bone abnormality.

Asunto(s)

Pueblo Asiatico/genética , Huesos/anomalías , Manchas Café con Leche/genética , Mutación/genética , Neoplasias de la Vaina del Nervio/complicaciones , Neurofibromatosis 1/genética , Neurofibromina 1/genética , Adolescente , Secuencia de Aminoácidos , Secuencia de Bases , Manchas Café con Leche/complicaciones , Manchas Café con Leche/diagnóstico por imagen , Análisis Mutacional de ADN , Humanos , Masculino , Datos de Secuencia Molecular , Neoplasias de la Vaina del Nervio/diagnóstico por imagen , Neoplasias de la Vaina del Nervio/genética , Neurofibromatosis 1/complicaciones , Neurofibromatosis 1/diagnóstico por imagen , Neurofibromina 1/química , Radiografía Abdominal , Tomografía Computarizada por Rayos X