PMID- 11230702
OWN - NLM
STAT- MEDLINE
DCOM- 20010405
LR  - 20041117
IS  - 0046-8177 (Print)
IS  - 0046-8177 (Linking)
VI  - 32
IP  - 2
DP  - 2001 Feb
TI  - A role for fluorescence in situ hybridization detection of chromosome 22q dosage 
      in distinguishing atypical teratoid/rhabdoid tumors from medulloblastoma/central 
      primitive neuroectodermal tumors.
PG  - 156-62
AB  - It has been postulated that infants with medulloblastomas/central primitive 
      neuroectodermal tumors (MB/PNET) may fare worse than older patients because some 
      of them harbor unrecognized atypical teratoid/rhabdoid tumors (AT/RT), rare 
      intracranial neoplasms that are typically unresponsive to therapy and rapidly 
      fatal. Although small primitive cells are common to both entities, chromosome 
      22q11.2 deletions are common only in AT/RTs. Using fluorescence in situ 
      hybridization (FISH) on archival, paraffin-embedded biopsy tissue with 
      commercially available probes to 22q11.2, the region associated with RTs, we 
      studied 8 cases of AT/RT, 12 cases of MB/PNET, and 4 cases of primitive central 
      nervous system (CNS) neoplasms, which were difficult to classify. 22q Deletions 
      were identified in 6 of 8 (75%) conventional AT/RTs and 0 of 12 (0%) children 
      with classic MB/PNET. Of the 4 originally "difficult to classify" cases, 3 had 
      deletions of 22q. In light of the FISH results, review of the morphology and 
      immunophenotype resulted in 3 tumors being reclassified as AT/RTs and 1 as a 
      large cell MB. These 4 cases highlight the potential diagnostic use of FISH for 
      selected cases of primitive CNS malignancies in children and substantiate the 
      notion that misdiagnosed AT/RTs may, in part account for the worse prognosis 
      associated with "MB/PNET" in children younger than 2 years of age.
FAU - Bruch, L A
AU  - Bruch LA
AD  - Department of Pathology (Neuropathology) and Anatomic Pathology, Washington 
      University School of Medicine, St Louis, MO 63110, USA.
FAU - Hill, D A
AU  - Hill DA
FAU - Cai, D X
AU  - Cai DX
FAU - Levy, B K
AU  - Levy BK
FAU - Dehner, L P
AU  - Dehner LP
FAU - Perry, A
AU  - Perry A
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Hum Pathol
JT  - Human pathology
JID - 9421547
SB  - IM
MH  - Adolescent
MH  - Central Nervous System Neoplasms/chemistry/*diagnosis/genetics
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 22
MH  - Diagnosis, Differential
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Infant
MH  - Male
MH  - Medulloblastoma/chemistry/*diagnosis/genetics
MH  - Neuroectodermal Tumors, Primitive/chemistry/*diagnosis/genetics
MH  - Prognosis
MH  - Rhabdoid Tumor/chemistry/*diagnosis/genetics
MH  - Teratoma/chemistry/*diagnosis/genetics
EDAT- 2001/03/07 10:00
MHDA- 2001/04/06 10:01
CRDT- 2001/03/07 10:00
PHST- 2001/03/07 10:00 [pubmed]
PHST- 2001/04/06 10:01 [medline]
PHST- 2001/03/07 10:00 [entrez]
AID - S0046-8177(01)87801-1 [pii]
AID - 10.1053/hupa.2001.21572 [doi]
PST - ppublish
SO  - Hum Pathol. 2001 Feb;32(2):156-62. doi: 10.1053/hupa.2001.21572.