Rare NF1 Gene Mutation in Chinese Patient with Neurofibromatosis Type 1 and Anaplastic Astrocytoma.

Neurofibromatosis type 1 (NF1), a dysregulated neurocutaneous disorder, is an autosomal dominant genetic disease caused by mutations in the NF1 gene. Anaplastic astrocytoma is rare in NF1 patients, and research has proposed that high-grade astrocytomas could be due to larger germ-line mutations in NF1.We present a clinical and molecular study of a Chinese family with NF1. A 28-year-old male patient with NF1 presents with headache, vertigo, and dizziness. Histopathologic examination and molecular features identified a cerebellar anaplastic astrocytoma, IDH-wildtype. The patient underwent gross total resection of the lesion and received radiotherapy and chemotherapy. A rare splice error mutation (c.4110+945A>G) in intron 23-2 of NF1 was identified by next-generation sequencing in the proband. Sanger sequencing identified and confirmed it in some affected family members. We present a unique case of NF1 with anaplastic astrocytoma that revealed a rare splice error mutation in the NF1 gene in the family.