title: A novel TP53 somatic mutation involved in the pathogenesis of pediatric choroid plexus carcinoma.
abstract: BACKGROUND
  Choroid plexus carcinoma (CPC) is an uncommon, aggressive, malignant, central nervous system neoplasm that typically occurs in children, presenting with the signs and symptoms of intracranial hypertension and cerebrospinal fluid obstruction.
  
  
  METHODS
  We report the case of a 2.5-year-old girl with CPC. The tumor was subtotally removed by microsurgery, followed by gamma knife radiosurgery for the residual lesion. H&E staining indicated that this was a rare case of CPC. Neuropathological studies, assayed by immunohistochemical staining, showed that the tumor sample was positive to antibodies against S-100, CgA, AE1/AE3 (cytokeratin), Ki-67, INI1 and TP53, and was negative to antibodies against Nestin, GFAP, CD133, EMA and AFP. Moreover, stainings for transthyretin and vimentin were focally positive. Interestingly, direct DNA sequencing of the paraffin-embedded tumor sample identified a novel R248Q mutation in the TP53 gene. In contrast to previous reports suggesting that TP53 germline mutations were associated with the pathogenesis of CPC, here we provide a rare case of CPC with TP53 somatic mutation, as evidence that the peritumoral tissue possesses the non-mutant TP53 allele.
  
  
  CONCLUSIONS
  Our finding suggests that TP53 somatic mutations, in addition to its germline mutations, may also be involved in the pathogenesis of pediatric CPC.
authors.affiliation: Department of Neurosurgery, Xinqiao Hospital, Third Military Medical University, Chongqing, China. lvsq0518@yahoo.com.cn
authors.forename: Sheng-Qing
authors.initials: SQ
authors.lastname: Lv
authors.forename: Ye-Chun
authors.initials: YC
authors.lastname: Song
authors.forename: Jian-Ping
authors.initials: JP
authors.lastname: Xu
authors.forename: Hai-Feng
authors.initials: HF
authors.lastname: Shu
authors.forename: Zheng
authors.initials: Z
authors.lastname: Zhou
authors.forename: Ning
authors.initials: N
authors.lastname: An
authors.forename: Qi-Lin
authors.initials: QL
authors.lastname: Huang
authors.forename: Hui
authors.initials: H
authors.lastname: Yang
mesh_terms: D002675:Child, Preschool; D016545:Choroid Plexus Neoplasms / Q000235:genetics*; D017809:Fatal Outcome; D016158:Genes, p53; D018095:Germ-Line Mutation; D006801:Humans; D007150:Immunohistochemistry; D008297:Male