Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1
pubmed:dateCreated
2003-2-20
pubmed:abstractText
Synovial sarcoma is the most common nonrhabdomyosarcomatous soft tissue sarcoma in children and adolescents and is characterized by a reciprocal t(X;18)(p11;q11) which results in the fusion of the SYT gene on chromosome 18q11 to either of two closely related genes, SSX1 (Xp11.23) or SSX2 (Xp11.21). Detection of this translocation or its resultant gene fusion by molecular methods is helpful in the pathologic diagnosis of synovial sarcoma, especially in poorly differentiated tumors. This study was designed to evaluate the utility of a real-time reverse transcriptase-polymerase chain reaction (RT-PCR) assay to detect and distinguish SYT-SSX1 and SYT-SSX2 fusions in fresh and archival specimens of synovial sarcoma in pediatric patients seen at St. Jude Children's Research Hospital. In addition, the clinicopathologic features of the tumors with SYT-SSX1 vs. SYT-SSX2 fusions were compared. The 25 patients studied had a median age of 13 years 9 months (range 5 to 19 years). Estimates of survival and event-free survival at 5 years were 78.7 +/- 10.5% and 56.2 +/- 13.2%, respectively. Seventeen (68%) tumors were monophasic, eight (32%) were biphasic. Seven tumors contained poorly differentiated areas. Positive results for either SYT-SSX1 or SYT-SSX2 were obtained in 21/25 (84%) cases. Three cases did not have a detectable gene fusion and one had no amplifiable RNA. SYT-SSX1 transcripts were found in 18/24 (75%) of the tumors while SYT-SSX2 transcripts were identified in 3/24 (12.5%). All of the poorly differentiated tumors and seven out of eight tumors from patients who developed lung metastases had an SYT-SSX1 fusion transcript. Real-time PCR is useful in detecting and distinguishing SYT-SSX1 from SYT-SSX2 gene fusions in synovial sarcoma. Valuable aspects of this methodology are the applicability to both frozen and formalin-fixed samples, decreased labor costs, and the rapidity of results. In addition, distinguishing SYT-SSX1 from SYT-SSX2 fusions with these methods allow for prospective collection of information that may clarify issues of prognostic relevance.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1093-5266
pubmed:author
pubmed:issnType
Print
pubmed:volume
6
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
24-34
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:12469233-Adolescent, pubmed-meshheading:12469233-Adult, pubmed-meshheading:12469233-Child, pubmed-meshheading:12469233-Child, Preschool, pubmed-meshheading:12469233-Costs and Cost Analysis, pubmed-meshheading:12469233-DNA Primers, pubmed-meshheading:12469233-Female, pubmed-meshheading:12469233-Hospitals, Pediatric, pubmed-meshheading:12469233-Humans, pubmed-meshheading:12469233-Male, pubmed-meshheading:12469233-Oncogene Proteins, Fusion, pubmed-meshheading:12469233-RNA, Neoplasm, pubmed-meshheading:12469233-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:12469233-Sarcoma, Synovial, pubmed-meshheading:12469233-Soft Tissue Neoplasms, pubmed-meshheading:12469233-Survival Rate, pubmed-meshheading:12469233-Tennessee, pubmed-meshheading:12469233-Tumor Markers, Biological
pubmed:articleTitle
Real-time polymerase chain reaction as an aid for the detection of SYT-SSX1 and SYT-SSX2 transcripts in fresh and archival pediatric synovial sarcoma specimens: report of 25 cases from St. Jude Children's Research Hospital.
pubmed:affiliation
Department of Pathology, St Jude Children's Research Hospital, 332 N Lauderdale Street, Memphis, TN 38105, USA. hill@path.wustl.edu
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't