title: Embryonal central nervous system neoplasms arising in infants and young children: a pediatric brain tumor consortium study.
abstract: BACKGROUND
  Medulloblastomas (MBs) and atypical teratoid/rhabdoid tumors (AT/RTs) arising in infants and children can be difficult to distinguish; however, histologic characterization is prognostically important.
  
  
  OBJECTIVE
  To determine histologic and phenotypic markers associated with utility with progression-free survival (PFS) and overall survival (OS) in children younger than 3 years with MBs and AT/RTs.
  
  
  METHODS
  We undertook a histologic and immunophenotypic study of MBs and AT/RTs arising in infants and children younger than 3 years treated in a Pediatric Brain Tumor Consortium study. The 41 girls and 55 boys ranged in age from 2 to 36 months at enrollment. These infants and children exhibited 51 MBs, 26 AT/RTs, and 24 other tumors (not further studied). Median follow-up of the patients was 17.2 months from diagnosis (range: 1.4-93 months).
  
  
  RESULTS
  Infants and children with AT/RT exhibited a statistically significant shorter PFS and OS when compared to infants and children with MBs (both P < .001). A lack of nuclear BAF47 immunohistochemical reactivity proved reliable in identifying AT/RTs. Among MBs, our data suggest an association of nodularity and prolonged PFS and OS, which must be independently confirmed. Anaplasia correlated with OTX2 reactivity and both OTX2 and moderate to severe anaplasia correlated with PFS but not with OS.
  
  
  CONCLUSIONS
  Distinguishing AT/RT from MBs is clinically important. For expert neuropathologists, the diagnoses of AT/RT and MB can be reliably made from hematoxylin-eosin stains in the vast majority of cases. However certain rare small cell variants of AT/RT can be confused with MB. We also found that immunohistochemical reactivity for BAF47 is clinically useful in distinguishing MBs from AT/RTs and for identifying certain small cell AT/RTs. Among MBs, nodularity may be an important prognostic factor for improved PFS and OS in infants and children.
authors.affiliation: Department of Pathology, Duke University Medical Center, Durham, North Carolina 27710, USA. roger.mclendon@duke.edu
authors.forename: Roger E
authors.initials: RE
authors.lastname: McLendon
authors.forename: Adesina
authors.initials: A
authors.lastname: Adekunle
authors.forename: Veena
authors.initials: V
authors.lastname: Rajaram
authors.forename: Mehmet
authors.initials: M
authors.lastname: Koçak
authors.forename: Susan M
authors.initials: SM
authors.lastname: Blaney
mesh_terms: D014408:Biomarkers, Tumor / Q000378:metabolism; D016543:Central Nervous System Neoplasms / Q000378:metabolism / Q000401:mortality / Q000473:pathology*; D002675:Child, Preschool; D002868:Chromosomal Proteins, Non-Histone / Q000378:metabolism; D004268:DNA-Binding Proteins / Q000378:metabolism; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008527:Medulloblastoma / Q000378:metabolism / Q000401:mortality / Q000473:pathology*; D011379:Prognosis; D018335:Rhabdoid Tumor / Q000378:metabolism / Q000401:mortality / Q000473:pathology*; D000071796:SMARCB1 Protein; D015996:Survival Rate; D013724:Teratoma / Q000378:metabolism / Q000401:mortality / Q000473:pathology*; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D014408:Biomarkers, Tumor; D002868:Chromosomal Proteins, Non-Histone; D004268:DNA-Binding Proteins; D000071796:SMARCB1 Protein; C513266:SMARCB1 protein, human; D014157:Transcription Factors