PMID- 16258500
OWN - NLM
STAT- MEDLINE
DCOM- 20060302
LR  - 20230210
IS  - 0893-3952 (Print)
IS  - 0893-3952 (Linking)
VI  - 18
IP  - 12
DP  - 2005 Dec
TI  - Dual-color, break-apart fluorescence in situ hybridization for EWS gene 
      rearrangement distinguishes clear cell sarcoma of soft tissue from malignant 
      melanoma.
PG  - 1585-90
AB  - Clear cell sarcoma of soft tissue (malignant melanoma of soft parts) is a soft 
      tissue sarcoma with melanocytic differentiation that typically occurs in the 
      tendons and aponeuroses of young adults. As demonstrated by cytogenetics and 
      reverse-transcriptase polymerase chain reaction, between 70% and over 90% of 
      clear cell sarcomas have a t(12;22) translocation, fusing the EWS and ATF1 genes 
      on chromosomes 22q12 and 12q13, respectively. Identification of this 
      translocation distinguishes clear cell sarcoma from histologic mimics, most 
      importantly conventional malignant melanoma. We report our experience with a 
      commercially available, dual-color, break-apart fluorescence in situ 
      hybridization (FISH) probe, which allows detection of EWS (22q12) gene 
      rearrangement in formalin-fixed, paraffin-embedded tissues. Histologically and 
      immunophenotypically well-characterized cases of clear cell sarcoma (n = 10) and 
      malignant melanoma (n = 32) were evaluated with a 22q12 dual-color, break-apart 
      probe (Vysis, Downer's Grove, IL, USA), which spans the known common breakpoints 
      in the EWS gene on chromosome 22 (introns 7-10). Signals from tumor cell nuclei 
      were counted under a fluorescence microscope and the presence of red-green 
      break-apart signals was recorded. Of the clear cell sarcoma cases, seven of 10 
      showed evidence of an EWS gene rearrangement with a mean of 81.6% positive cells 
      per sample (range: 60-95%). All cases of malignant melanoma (n = 32) showed 
      virtually absent break-apart signals in the EWS gene (less than 4% cells per 
      case). FISH detects EWS gene rearrangement in a substantial proportion of clear 
      cell sarcomas, with excellent specificity. Importantly, EWS FISH is negative in 
      malignant melanoma, a clinically dissimilar tumor, which may closely mimic clear 
      cell sarcoma histologically and immunohistochemically. As the studied probe can 
      be utilized in routinely processed tissue, FISH provides an excellent alternative 
      to reverse-transcriptase polymerase chain reaction in cases where fresh tissue is 
      unavailable.
FAU - Patel, Rajiv M
AU  - Patel RM
AD  - Department of Pathology and Laboratory Medicine, Emory University, Atlanta, GA 
      30355, USA. rmpate5@emory.edu
FAU - Downs-Kelly, Erinn
AU  - Downs-Kelly E
FAU - Weiss, Sharon W
AU  - Weiss SW
FAU - Folpe, Andrew L
AU  - Folpe AL
FAU - Tubbs, Raymond R
AU  - Tubbs RR
FAU - Tuthill, Ralph J
AU  - Tuthill RJ
FAU - Goldblum, John R
AU  - Goldblum JR
FAU - Skacel, Marek
AU  - Skacel M
LA  - eng
PT  - Journal Article
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 (EWS-FLI fusion protein)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proto-Oncogene Protein c-fli-1)
RN  - 0 (RNA-Binding Protein EWS)
SB  - IM
MH  - Diagnosis, Differential
MH  - Gene Rearrangement/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Melanoma/diagnosis/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Proto-Oncogene Protein c-fli-1/*genetics
MH  - RNA-Binding Protein EWS
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sarcoma, Clear Cell/diagnosis/*genetics
MH  - Soft Tissue Neoplasms/diagnosis/*genetics
MH  - Tissue Array Analysis
EDAT- 2005/11/01 09:00
MHDA- 2006/03/03 09:00
CRDT- 2005/11/01 09:00
PHST- 2005/11/01 09:00 [pubmed]
PHST- 2006/03/03 09:00 [medline]
PHST- 2005/11/01 09:00 [entrez]
AID - S0893-3952(22)04510-0 [pii]
AID - 10.1038/modpathol.3800503 [doi]
PST - ppublish
SO  - Mod Pathol. 2005 Dec;18(12):1585-90. doi: 10.1038/modpathol.3800503.