title: Familial schwannomatosis with a germline mutation of SMARCB1 in Japan.
abstract: Schwannomatosis is the third major form of neurofibromatosis (NF) and is distinct from NF1 and NF2. The disease is not well recognized in Asian countries and the role of germline SMARCB1 mutations requires investigation. A 35-year-old Japanese man complaining of headache underwent an MRI examination, which showed a cystic tumor at the left cerebellopontine angle. The tumor was surgically removed and diagnosed as vagus nerve schwannoma. He had a past medical history of multiple schwannomas of the neck, groin and intercostal nerves, which were also treated surgically. He had a family history of multiple schwannomas for his father and sister. Systemic examinations of these family members ruled out a diagnosis of NF1 or NF2, and thus schwannomatosis was suspected. Genetic analysis revealed a germline mutation (c. *82C > T) of SMARCB1, and a somatic mutation of NF2 without loss of heterozygosity at the chromosome 22 locus. This is the first report of familial schwannomatosis associated with a germline mutation of SMARCB1 in an Asian country.
authors: Department of Neurosurgery, Kobe City Medical Center General Hospital, Kobe, Japan, asai-osk@umin.ac.jp.
authors: Katsunori
authors: K
authors: Asai
authors: Shoichi
authors: S
authors: Tani
authors: Yohei
authors: Y
authors: Mineharu
authors: Yoshinori
authors: Y
authors: Tsurusaki
authors: Yukihiro
authors: Y
authors: Imai
authors: Yuji
authors: Y
authors: Agawa
authors: Koichi
authors: K
authors: Iwaki
authors: Naomichi
authors: N
authors: Matsumoto
authors: Nobuyuki
authors: N
authors: Sakai
mesh_terms: D000328:Adult; D044466:Asian People; D002868:Chromosomal Proteins, Non-Histone / Q000235:genetics*; D002875:Chromosomes / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics*; D005220:Fathers; D005260:Female; D016515:Genes, Neurofibromatosis 2; D018095:Germ-Line Mutation / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009442:Neurilemmoma / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D009464:Neuroma, Acoustic / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000071796:SMARCB1 Protein; D035781:Siblings; D014157:Transcription Factors / Q000235:genetics*; D014630:Vagus Nerve
chemical_list: D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors