title: Mutation spectrum and differential gene expression in cystic and solid vestibular schwannoma.
abstract: OBJECTIVE
  We sought to characterize the mutation spectrum of NF2 and the differential gene expression in cystic and solid vestibular schwannomas.
  
  
  METHODS
  We collected tumor tissue and blood samples of 31 cystic vestibular schwannomas and 114 solid vestibular schwannomas. Mutation screening of NF2 was performed in both tumor and blood DNA samples of all patients. cDNA microarray was used to analyze the differential gene expression between 11 cystic vestibular schwannomas and 6 solid vestibular schwannomas. Expression levels of top candidate genes were verified by quantitative reverse transcription PCR.
  
  
  RESULTS
  NF2 mutations were identified in 34.5% of sporadic vestibular schwannomas, with all mutations being exclusively somatic. No significant difference was found between the mutation detection rates of cystic vestibular schwannoma (35.5%) and solid vestibular schwannoma (34.2%). cDNA microarray analysis detected a total of 46 differentially expressed genes between the cystic vestibular schwannoma and solid vestibular schwannoma samples. The significantly decreased expression of four top candidate genes, C1orf130, CNTF, COL4A3, and COL4A4, was verified by quantitative reverse transcription PCR.
  
  
  CONCLUSIONS
  NF2 mutations are not directly involved in the cystic formation of vestibular schwannoma. In addition, the differential gene expression of cystic vestibular schwannoma reported in our study may provide useful insights into the molecular mechanism underlying this process.
authors.affiliation: 1] Department of Otolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China [2] Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Zhihua
authors.initials: Z
authors.lastname: Zhang
authors.affiliation: 1] Department of Otolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China [2] Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Zhaoyan
authors.initials: Z
authors.lastname: Wang
authors.affiliation: 1] Department of Otolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China [2] Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Lianhua
authors.initials: L
authors.lastname: Sun
authors.affiliation: 1] Department of Otolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China [2] Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Xiaohua
authors.initials: X
authors.lastname: Li
authors.affiliation: 1] Department of Otolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China [2] Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Qi
authors.initials: Q
authors.lastname: Huang
authors.affiliation: 1] Department of Otolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China [2] Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Tao
authors.initials: T
authors.lastname: Yang
authors.affiliation: 1] Department of Otolaryngology-Head & Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China [2] Ear Institute, Shanghai Jiaotong University School of Medicine, Shanghai, China.
authors.forename: Hao
authors.initials: H
authors.lastname: Wu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001324:Autoantigens / Q000235:genetics; D002648:Child; D020934:Ciliary Neurotrophic Factor / Q000235:genetics; D024141:Collagen Type IV / Q000235:genetics; D003550:Cystic Fibrosis / Q000175:diagnosis / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020869:Gene Expression Profiling; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009185:Myelin Proteins / Q000235:genetics; D025581:Neurofibromin 2 / Q000235:genetics*; D009464:Neuroma, Acoustic / Q000175:diagnosis / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D001324:Autoantigens; C466620:COL4A4 protein, human; D020934:Ciliary Neurotrophic Factor; D024141:Collagen Type IV; D009185:Myelin Proteins; C530917:NCMAP protein, human; D025581:Neurofibromin 2; C057112:type IV collagen alpha3 chain