title: BCL10 single nucleotide polymorphism and its association with CSF dissemination of primary intracranial germ cell tumors.
abstract: BACKGROUND
  Intracranial germ cell tumors (GCTs) are rare neoplasms. Little is known about the pathogenesis of these tumors. The BCL10 gene, a proapoptotic signaling molecule involved in the Apaf-1/caspase-9 cell death pathway, may act as a tumor suppressor gene in multiple types of tumors including testicular GCTs.
  
  
  METHODS
  To evaluate whether alterations in the BCL10 gene play a role in the genesis of intracranial GCTs, we analyzed the BCL10 gene in 10 pure germinomas (PGs) and 10 nongerminomatous GCTs.
  
  
  RESULTS
  We found no inactivating mutations; however, 5 of 10 PGs and 1 of 10 nongerminomatous GCTs manifested specific single nucleotide polymorphisms (SNPs) that carried an amino acid substitution at codon 5 in exon 1 or codon 162 in exon 3. This SNP occurs at higher frequency in patients with PGs than healthy individuals (p = 0.07). CSF dissemination occurred in 4 of our 6 patients manifesting SNP (p = 0.037).
  
  
  CONCLUSIONS
  Our data suggest that this specific SNP in the BCL10 gene may be partly responsible for the tumorigenesis of PG in Japanese individuals, and may be associated with the aggressive nature of these tumors.
authors.affiliation: Department of Neurosurgery, Kanazawa University Hospital, Kanazawa, Japan. yuh@ns.m.kanazawa-u.ac.jp
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Takuya
authors.initials: T
authors.lastname: Watanabe
authors.forename: Mitsutoshi
authors.initials: M
authors.lastname: Nakada
authors.forename: Daisuke
authors.initials: D
authors.lastname: Kita
authors.forename: Yasuhiko
authors.initials: Y
authors.lastname: Hayashi
authors.forename: Naoyuki
authors.initials: N
authors.lastname: Uchiyama
authors.forename: Jun-ichiro
authors.initials: J
authors.lastname: Hamada
mesh_terms: D048868:Adaptor Proteins, Signal Transducing / Q000134:cerebrospinal fluid* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D000074018:B-Cell CLL-Lymphoma 10 Protein; D001932:Brain Neoplasms / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D018237:Germinoma / Q000134:cerebrospinal fluid* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D055815:Young Adult
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D000074018:B-Cell CLL-Lymphoma 10 Protein; C118591:BCL10 protein, human