PMID- 15208645
OWN - NLM
STAT- MEDLINE
DCOM- 20040928
LR  - 20230216
IS  - 0023-6837 (Print)
IS  - 0023-6837 (Linking)
VI  - 84
IP  - 9
DP  - 2004 Sep
TI  - A novel FISH assay for SS18-SSX fusion type in synovial sarcoma.
PG  - 1185-92
AB  - Synovial sarcoma is a morphologically, clinically and genetically distinct entity 
      that accounts for 5-10% of all soft tissue sarcomas. The t(X;18)(p11.2;q11.2) is 
      the cytogenetic hallmark of synovial sarcoma and is present in more than 90% of 
      the cases. It produces three types of fusion gene formed in part by SS18 from 
      chromosome 18 and by SSX1, SSX2 or, rarely, SSX4 from the X chromosome. The 
      SS18-SSX fusions do not seem to occur in other tumor types, and it has been shown 
      that in synovial sarcoma a clear correlation exists between the type of fusion 
      gene and histologic subtype and, more importantly, clinical outcome. Previous 
      analyses regarding the type of fusion genes have been based on PCR amplification 
      of the fusion transcript, requiring access to good-quality RNA. In order to 
      obtain an alternative tool to diagnose and follow this malignancy, we developed a 
      fluorescence in situ hybridization (FISH) assay that could distinguish between 
      the two most common fusion genes, that is, SS18-SSX1 and SS18-SSX2. The 
      specificity of the selected bacterial artificial chromosome clones used in the 
      detection of these fusion genes, as well as the sensitivity of the analysis in 
      metaphase and interphase cells, was examined in a series of 28 synovial sarcoma 
      samples with known fusion gene status. In all samples, the type of fusion was 
      correctly identified by FISH. Thus, the assay described here should be useful for 
      clarifying unresolved chromosome markers and for identifying fusion gene status 
      in samples from which RNA of sufficient quality for PCR could not be extracted.
FAU - Surace, Cecilia
AU  - Surace C
AD  - Department of Clinical Genetics, Lund University Hospital, Lund, Sweden.
FAU - Panagopoulos, Ioannis
AU  - Panagopoulos I
FAU - Palsson, Eva
AU  - Palsson E
FAU - Rocchi, Mariano
AU  - Rocchi M
FAU - Mandahl, Nils
AU  - Mandahl N
FAU - Mertens, Fredrik
AU  - Mertens F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Lab Invest
JT  - Laboratory investigation; a journal of technical methods and pathology
JID - 0376617
RN  - 0 (Antigens, Neoplasm)
RN  - 0 (DNA, Neoplasm)
RN  - 0 (Genetic Markers)
RN  - 0 (Neoplasm Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (Proteins)
RN  - 0 (Proto-Oncogene Proteins)
RN  - 0 (Repressor Proteins)
RN  - 0 (SS18 protein, human)
RN  - 0 (SS18-SSX1 fusion protein)
RN  - 164289-47-8 (synovial sarcoma X breakpoint proteins)
SB  - IM
MH  - Antigens, Neoplasm/genetics/metabolism
MH  - Artificial Gene Fusion
MH  - Chromosomes, Artificial, Bacterial
MH  - DNA, Neoplasm/analysis
MH  - Female
MH  - Genetic Markers
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Male
MH  - Neoplasm Proteins/*genetics/metabolism
MH  - Oncogene Proteins, Fusion/*genetics/metabolism
MH  - Proteins/*genetics/metabolism
MH  - Proto-Oncogene Proteins
MH  - Repressor Proteins/*genetics/metabolism
MH  - Sarcoma, Synovial/*genetics/metabolism/pathology
MH  - Soft Tissue Neoplasms/*genetics/metabolism/pathology
MH  - Spectral Karyotyping
EDAT- 2004/06/23 05:00
MHDA- 2004/09/29 05:00
CRDT- 2004/06/23 05:00
PHST- 2004/06/23 05:00 [pubmed]
PHST- 2004/09/29 05:00 [medline]
PHST- 2004/06/23 05:00 [entrez]
AID - S0023-6837(22)60209-5 [pii]
AID - 10.1038/labinvest.3700142 [doi]
PST - ppublish
SO  - Lab Invest. 2004 Sep;84(9):1185-92. doi: 10.1038/labinvest.3700142.