PMID- 19561568
OWN - NLM
STAT- MEDLINE
DCOM- 20091110
LR  - 20230210
IS  - 1530-0285 (Electronic)
IS  - 0893-3952 (Linking)
VI  - 22
IP  - 9
DP  - 2009 Sep
TI  - Detection and characterization of EWSR1/ATF1 and EWSR1/CREB1 chimeric transcripts 
      in clear cell sarcoma (melanoma of soft parts).
PG  - 1201-9
LID - 10.1038/modpathol.2009.85 [doi]
AB  - Unlike melanoma, clear cell sarcoma harbors either a t(12;22)(q13;q12) recurrent 
      translocation, resulting in an EWSR1/ATF1 chimeric gene, or less commonly a 
      t(2;22)(q34;q12) translocation fusing EWSR1 and CREB1. Few studies have examined 
      the prevalence of all chimeric types and variants to assess the usage of 
      ancillary genetic testing in routine diagnosis. We investigated rearrangement 
      prevalence in 17 clear cell sarcomas, two positive control cell lines, and two 
      melanomas (negative controls). Fluorescence in situ hybridization (FISH) analysis 
      using the LSI EWSR1 break-apart probe and a reverse transcription polymerase 
      chain reaction (RT-PCR) assay optimized for formalin-fixed paraffin-embedded 
      tissue to detect all four reported EWSR1/ATF1 clear cell sarcoma chimeric types 
      and the EWSR1/CREB1 variant was performed. All 15 cases available for testing by 
      FISH were positive for EWSR1 rearrangement including two cases with insufficient 
      RNA for RT-PCR. Thirteen of 15 cases successfully tested by RT-PCR harbored a 
      type 1 chimeric transcript (EWSR1 exon 8/ATF1 exon 4), of which five tumors 
      simultaneously carried a type 2 chimeric transcript (EWSR1 exon 7/ATF1 exon 5). 
      One case carried a type 2 transcript alone and one case contained an EWSR1/CREB1 
      transcript. Both control cases were positive by both techniques with one case 
      carrying both types 1 and 2 chimeric transcripts and the other types 2 and 3 
      (EWSR1 exon 10/ATF1 exon 5). Consequently, both techniques are equally effective 
      in assessing for an EWSR1 rearrangement and are useful ancillary diagnostic tests 
      for clear cell sarcoma. They also reinforce the prevalence of this translocation 
      in these tumors. In addition, EWSR1-CREB1 was identified in a clear cell sarcoma 
      of soft tissue providing further evidence that this chimeric variant is not 
      exclusive to gastrointestinal clear cell sarcomas and should be included in 
      RT-PCR assays of soft tissue clear cell sarcomas.
FAU - Wang, Wei-Lien
AU  - Wang WL
AD  - Department of Pathology, The University of Texas M.D. Anderson Cancer Center, 
      Houston, TX 77030-2313, USA.
FAU - Mayordomo, Empar
AU  - Mayordomo E
FAU - Zhang, Wenyong
AU  - Zhang W
FAU - Hernandez, Vivian S
AU  - Hernandez VS
FAU - Tuvin, Daniel
AU  - Tuvin D
FAU - Garcia, Lisa
AU  - Garcia L
FAU - Lev, Dina C
AU  - Lev DC
FAU - Lazar, Alexander Jf
AU  - Lazar AJ
FAU - Lopez-Terrada, Dolores
AU  - Lopez-Terrada D
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20090626
PL  - United States
TA  - Mod Pathol
JT  - Modern pathology : an official journal of the United States and Canadian Academy 
      of Pathology, Inc
JID - 8806605
RN  - 0 (Calmodulin-Binding Proteins)
RN  - 0 (EWS-ATF1 fusion protein, human)
RN  - 0 (EWSR1 protein, human)
RN  - 0 (EWSR1-CREB1 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (RNA-Binding Protein EWS)
RN  - 0 (RNA-Binding Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 2.3.1.48 (CREB-Binding Protein)
RN  - EC 2.3.1.48 (CREBBP protein, human)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - CREB-Binding Protein/*genetics
MH  - Calmodulin-Binding Proteins/*genetics
MH  - Child
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Middle Aged
MH  - Oncogene Proteins, Fusion/*genetics
MH  - RNA-Binding Protein EWS
MH  - RNA-Binding Proteins/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma, Clear Cell/*genetics
MH  - Soft Tissue Neoplasms/*genetics
MH  - Transcription Factors/*genetics
MH  - Young Adult
EDAT- 2009/06/30 09:00
MHDA- 2009/11/11 06:00
CRDT- 2009/06/30 09:00
PHST- 2009/06/30 09:00 [entrez]
PHST- 2009/06/30 09:00 [pubmed]
PHST- 2009/11/11 06:00 [medline]
AID - S0893-3952(22)02472-3 [pii]
AID - 10.1038/modpathol.2009.85 [doi]
PST - ppublish
SO  - Mod Pathol. 2009 Sep;22(9):1201-9. doi: 10.1038/modpathol.2009.85. Epub 2009 Jun 
      26.