title: Choroid plexus tumors; management, outcome, and association with the Li-Fraumeni syndrome: the Children's Hospital Los Angeles (CHLA) experience, 1991-2010.
abstract: BACKGROUND
  Choroid plexus tumors (CPT) are rare, and predominate in early childhood. An association with the Li-Fraumeni syndrome (LFS) has been reported, but the biological and clinical implications of this association remain poorly defined. We have investigated the clinical features and overall survival of all CPT patients treated at Children's Hospital Los Angeles (CHLA) over a 20-year period, with particular attention to the association of CPT with LFS.
  
  
  METHODS
  A retrospective evaluation of the course of therapy and clinical outcome was undertaken on the 42 patients diagnosed with and treated for CPT at CHLA from January 1991 to December 2010. Any association with multiple primary tumors and family histories consistent with LFS was investigated in all patients.
  
  
  RESULTS
  Six of the 42 patients (16.7%), demonstrated either phenotypic and/or genotypic characteristics consistent with LFS, with either a distinct family history of cancer, a synchronous diagnosis of a different type of cancer, or the subsequent development of metachronous cancers. Of 11 patients with choroid plexus carcinoma tested for TP53 germline mutations, four (36.4%) were positive. A single patient with a choroid plexus papilloma had phenotypic characteristics of LFS but tested negative for TP53.
  
  
  CONCLUSIONS
  Children with CPC appear to have a high frequency of TP53 germline mutations in association with LFS. This raises the question whether all children with CPC should be tested for TP53 germline mutations in order to institute screening to enhance early detection and treatment of subsequent cancers.
authors: Children's Center for Cancer and Blood Diseases, Children's Hospital, Los Angeles, CA, USA.
authors: Alexa E
authors: AE
authors: Gozali
authors: Barbara
authors: B
authors: Britt
authors: Lisa
authors: L
authors: Shane
authors: Ignacio
authors: I
authors: Gonzalez
authors: Floyd
authors: F
authors: Gilles
authors: J Gordon
authors: JG
authors: McComb
authors: Mark D
authors: MD
authors: Krieger
authors: Robert S
authors: RS
authors: Lavey
authors: Adam
authors: A
authors: Shlien
authors: Judith G
authors: JG
authors: Villablanca
authors: Anat
authors: A
authors: Erdreich-Epstein
authors: Girish
authors: G
authors: Dhall
authors: Rima
authors: R
authors: Jubran
authors: Uri
authors: U
authors: Tabori
authors: David
authors: D
authors: Malkin
authors: Jonathan L
authors: JL
authors: Finlay
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002648:Child; D002675:Child, Preschool; D016545:Choroid Plexus Neoplasms / Q000150:complications* / Q000401:mortality* / Q000628:therapy; D003131:Combined Modality Therapy; D018572:Disease-Free Survival; D005260:Female; D018095:Germ-Line Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D053208:Kaplan-Meier Estimate; D016864:Li-Fraumeni Syndrome / Q000150:complications* / Q000401:mortality* / Q000628:therapy; D008297:Male; D008875:Middle Aged; D012189:Retrospective Studies; D016896:Treatment Outcome; D016159:Tumor Suppressor Protein p53 / Q000235:genetics; D055815:Young Adult
chemical_list: D016159:Tumor Suppressor Protein p53