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

作者：Kumagai Arisa; Motoi Toru^*; Tsuji Kaori; Imamura Tetsuo; Fukusato Toshio

来源：American Journal of Clinical Pathology, 2010, 134(2): 323-331.

DOI：10.1309/AJCPTLSM15XKPDDU

• Synovial sarcoma
• Ewing sarcoma
• Chromosomal translocation
• Liquid-based cytology
• Chromogenic in situ hybridization

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 scrcoma/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 hut 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.

• 出版日期2010-8