PMID- 20513536
OWN - NLM
STAT- MEDLINE
DCOM- 20100617
LR  - 20171116
IS  - 1873-4456 (Electronic)
IS  - 0165-4608 (Linking)
VI  - 200
IP  - 1
DP  - 2010 Jul 1
TI  - Cryptic EWSR1-FLI1 fusions in Ewing sarcoma: potential pitfalls in the diagnostic 
      use of fluorescence in situ hybridization probes.
PG  - 60-4
LID - 10.1016/j.cancergencyto.2010.03.005 [doi]
AB  - Detection of EWSR1 translocations - particularly t(11;22)(q24;q12) - is of great 
      value in the differential diagnosis of the Ewing family of tumors. We report two 
      cases that highlight the problems and pitfalls of identifying Ewing tumors using 
      conventional chromosome analysis and a commercial EWSR1 fluorescence in situ 
      hybridization (FISH) probe. In both cases, the tumor karyotype was abnormal, but 
      a visible t(11;22)(q24;q12) was not present. The commercial EWSR1 "break-apart" 
      probe was not split in either case. Reverse-transcriptase polymerase chain 
      reaction (RT-PCR) analysis, however, identified EWSR1-FLI1 fusion transcripts in 
      both tumors, and the gene fusions were corroborated by FISH analysis with "in 
      house" probes and confirmed by sequencing RT-PCR products. The occurrence of 
      cryptic EWSR1-FLI1 fusions mandates that RT-PCR should be performed, particularly 
      in those cases in which the genetic findings are not in agreement with the 
      histologic picture.
CI  - 2010 Elsevier Inc. All rights reserved.
FAU - Newby, Rachel
AU  - Newby R
AD  - Institute for Human Genetics, Central Parkway, Newcastle upon Tyne, United 
      Kingdom.
FAU - Rowe, David
AU  - Rowe D
FAU - Paterson, Lindsay
AU  - Paterson L
FAU - Farquharson, Maura A
AU  - Farquharson MA
FAU - MacDuff, Elaine
AU  - MacDuff E
FAU - Coupe, Amanda
AU  - Coupe A
FAU - Hale, Juliet
AU  - Hale J
FAU - Dildey, Petra
AU  - Dildey P
FAU - Bown, Nick
AU  - Bown N
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Cancer Genet Cytogenet
JT  - Cancer genetics and cytogenetics
JID - 7909240
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (FLI1 protein, human)
RN  - 0 (Proto-Oncogene Protein c-fli-1)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Proteins)
SB  - IM
MH  - Adolescent
MH  - Bone Neoplasms/*genetics
MH  - Calmodulin-Binding Proteins/*genetics
MH  - Female
MH  - *Gene Fusion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Middle Aged
MH  - Proto-Oncogene Protein c-fli-1/*genetics
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Proteins/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma, Ewing/genetics
EDAT- 2010/06/02 06:00
MHDA- 2010/06/18 06:00
CRDT- 2010/06/02 06:00
PHST- 2009/10/23 00:00 [received]
PHST- 2010/03/08 00:00 [revised]
PHST- 2010/03/16 00:00 [accepted]
PHST- 2010/06/02 06:00 [entrez]
PHST- 2010/06/02 06:00 [pubmed]
PHST- 2010/06/18 06:00 [medline]
AID - S0165-4608(10)00117-2 [pii]
AID - 10.1016/j.cancergencyto.2010.03.005 [doi]
PST - ppublish
SO  - Cancer Genet Cytogenet. 2010 Jul 1;200(1):60-4. doi: 
      10.1016/j.cancergencyto.2010.03.005.