title: [Analysis of SYT/SSX1 and SYT/SSX2 fusion genes from synovial sarcoma].
abstract: The t(X;18)(p11;q11) translocation has been shown to be the specific alteration for synovial sarcomas. The translocation leads to production of chimeric protein SYT/SSX by fusion of SYT and SSX genes involved. The expression analysis of SYT/SSX1 and SYT/SSX2 chimeric transcripts was performed in formalin-fixed soft tissue tumour specimens and the diagnostic validity of immunohistochemistry, FISH and RT-PCR methods was compared. The chimeric transcripts were detected in 12 from 16 synovial sarcomas: 7 SYT/SSX1 and 5 SYT/SSX2 fusion variants; by fluorescence hybridization in situ (FISH) the translocation was found in 13 from 16 sarcoma samples. As synovial sarcoma represents a diagnostically challenging group, genetic analysis of translocations and chimeric transcripts is an extremely useful confirmatory diagnostic tool providing higher sensitivity than immunohistochemistry markers do.
authors.forename: T V
authors.initials: TV
authors.lastname: Kekeeva
authors.forename: A A
authors.initials: AA
authors.lastname: Riazantseva
authors.forename: L É
authors.initials: LÉ
authors.lastname: Zavalishina
authors.forename: Iu Iu
authors.initials: IuIu
authors.lastname: Andreeva
authors.forename: O V
authors.initials: OV
authors.lastname: Babenko
authors.forename: D V
authors.initials: DV
authors.lastname: Zaletaev
authors.forename: G A
authors.initials: GA
authors.lastname: Frank
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001483:Base Sequence; D014408:Biomarkers, Tumor / Q000032:analysis / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000737:chemistry / Q000235:genetics*; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D005260:Female; D005557:Formaldehyde; D015870:Gene Expression; D050939:Gene Fusion; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D015514:Oncogene Proteins, Fusion / Q000032:analysis / Q000235:genetics*; D016612:Paraffin Embedding; D057089:Pathology, Molecular / Q000379:methods*; D012333:RNA, Messenger / Q000032:analysis / Q000096:biosynthesis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013584:Sarcoma, Synovial / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D012983:Soft Tissue Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D016707:Tissue Fixation; D014158:Transcription, Genetic; D014178:Translocation, Genetic
chemical_list: D014408:Biomarkers, Tumor; D017931:DNA Primers; D015514:Oncogene Proteins, Fusion; D012333:RNA, Messenger; C116512:SYT-SSX fusion protein; D005557:Formaldehyde