PMID- 11679945
OWN - NLM
STAT- MEDLINE
DCOM- 20011205
LR  - 20151119
IS  - 0046-8177 (Print)
IS  - 0046-8177 (Linking)
VI  - 32
IP  - 10
DP  - 2001 Oct
TI  - Chromosome 22q dosage in composite extrarenal rhabdoid tumors: clonal evolution 
      or a phenotypic mimic?
PG  - 1102-8
AB  - Composite extrarenal rhabdoid tumors (CERTs) represent a diverse group of 
      neoplasms with rhabdoid shape in combination with one of several distinctive 
      tumor types. Like the classic renal and extrarenal malignant rhabdoid tumor 
      (MRT), as well as the atypical teratoid/rhabdoid tumor (AT/RT) of the central 
      nervous system, CERTs typically show aggressive clinical behavior. Deletions and 
      mutations of the INII gene on 22q11.2 have been identified in most classic MRTs 
      and AT/RTs; however, it is not known whether the rhabdoid components in CERTs 
      have similar genetic abnormalities. Using fluorescence in situ hybridization 
      (FISH) on archival, paraffin-embedded tissue with a commercially available probe 
      in close proximity to the INII locus (bcr), as well as other chromosome 22 
      probes, we studied 4 cases of MRT, 13 of AT/RT, and 16 of CERT (3 melanoma, 4 
      meningioma, 7 carcinoma, 1 rhabdomyosarcoma, and 1 neuroblastoma). Deletion of 
      the 22q11.2 locus was demonstrated in 10 (77%) of 13 AT/RTs and 3 (75%) of 4 MRT, 
      including 1 congenital MRT. Of the 16 CERTs, only 2 (a rhabdoid meningioma and a 
      carcinoma with rhabdoid features; 13%) harbored a deletion at this locus. This 
      difference was statistically significant (P <.001). We conclude that deletion of 
      22q11.2, typical of most classic MRTs and AT/RTs, is infrequently seen in CERTs. 
      This suggests that the rhabdoid component of CERTs does not evolve by way of the 
      genetic alteration characteristic of MRTs or AT/RTs, but represents instead a 
      distinct phenotype shared by a number of tumors as they undergo anaplastic 
      progression.
CI  - Copyright 2001 by W.B. Saunders Company
FAU - Fuller, C E
AU  - Fuller CE
AD  - Division of Neuropathology, Department of Pathology and Immunology, Barnes-Jewish 
      and St Louis Children's Hospitals, Washington University Medical Center, St 
      Louis, MO 63110, USA.
FAU - Pfeifer, J
AU  - Pfeifer J
FAU - Humphrey, P
AU  - Humphrey P
FAU - Bruch, L A
AU  - Bruch LA
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
RN  - 0 (Biomarkers, Tumor)
RN  - 0 (Neoplasm Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Biomarkers, Tumor/analysis
MH  - Child, Preschool
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 22
MH  - Clone Cells
MH  - Female
MH  - Gene Deletion
MH  - *Gene Dosage
MH  - Humans
MH  - Immunohistochemistry
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Middle Aged
MH  - Neoplasm Proteins/analysis
MH  - Neoplasms/chemistry/*genetics/pathology/surgery
MH  - Phenotype
MH  - Rhabdoid Tumor/chemistry/*genetics/pathology/surgery
MH  - Teratoma/chemistry/*genetics/pathology/surgery
EDAT- 2001/10/27 10:00
MHDA- 2002/01/05 10:01
CRDT- 2001/10/27 10:00
PHST- 2001/10/27 10:00 [pubmed]
PHST- 2002/01/05 10:01 [medline]
PHST- 2001/10/27 10:00 [entrez]
AID - S0046-8177(01)38545-3 [pii]
AID - 10.1053/hupa.2001.28252 [doi]
PST - ppublish
SO  - Hum Pathol. 2001 Oct;32(10):1102-8. doi: 10.1053/hupa.2001.28252.