title: Detection of SYT and EWS gene rearrangements by dual-color break-apart CISH in liquid-based cytology samples of synovial sarcoma and Ewing sarcoma/primitive neuroectodermal tumor.
abstract: To improve cytologic diagnostic accuracy for translocation-associated sarcomas, we explored dual-color break-apart (dc) chromogenic in situ hybridization (CISH) on liquid-based cytology (LBC) samples of 2 prototypic sarcomas: synovial sarcoma (SS) and Ewing sarcoma/primitive neuroectodermal tumor (ES/PNET). LBC samples of 10 cases of SS and 9 cases of ES/PNET were subjected to dc-CISH using probes for the specifically rearranged genes in each tumor entity: SYT in SS and EWS in ES/PNET. Rearranged SYT was successfully detected in all SSs but not in any ES/PNETs. In contrast, EWS rearrangement was identified in all ES/PNETs but not in any SSs. These results were validated by dc-fluorescence in situ hybridization and reverse transcription-polymerase chain reaction. dc-CISH on LBC samples is a reliable modality to detect gene rearrangements in sarcomas. This system has a clear advantage over other methods, enabling simultaneous visualization of the genetic abnormality and well-preserved, nonoverlapping cytomorphologic features with clear background under bright-field microscope.
authors.affiliation: Dept. of Pathology, Teikyo University School of Medicine, Kaga, Itabashi-ku, Tokyo 173-8605, Japan.
authors.forename: Arisa
authors.initials: A
authors.lastname: Kumagai
authors.forename: Toru
authors.initials: T
authors.lastname: Motoi
authors.forename: Kaori
authors.initials: K
authors.lastname: Tsuji
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Imamura
authors.forename: Toshio
authors.initials: T
authors.lastname: Fukusato
mesh_terms: D001859:Bone Neoplasms / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015321:Gene Rearrangement; D006801:Humans; D017403:In Situ Hybridization; D007223:Infant; D018241:Neuroectodermal Tumors, Primitive, Peripheral / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D034802:RNA-Binding Protein EWS / Q000235:genetics*; D012097:Repressor Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012512:Sarcoma, Ewing / Q000235:genetics*; D013584:Sarcoma, Synovial / Q000235:genetics*
chemical_list: D011518:Proto-Oncogene Proteins; D034802:RNA-Binding Protein EWS; D012097:Repressor Proteins; C093961:SS18 protein, human