A rare NF1 gene mutation in a Chinese patient with neurofibromatosis type 1 and anaplastic astrocytoma

Abstract Background Neurofibromatosis type 1 (NF1), a dysregulated neurocutaneous disorder, is an autosomal dominant genetic diease caused by mutations in the NF1 gene. Anaplastic astrocytoma is very 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. Clinical case A 28-year-old male patient with neurofibromatosis type 1 presents with headache, vertigo and dizziness. Histopathological 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 and was identified and confirmed by Sanger sequencing in some affected family members. Conclusions We present a unique case of NF1 with anaplastic astrocytoma and revealed a rare splice error mutation in NF1 gene in the family.