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

Am J Clin Pathol. 2010 Aug;134(2):323-31. doi: 10.1309/AJCPTLSM15XKPDDU.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Neoplasms / genetics*
  • Child
  • Child, Preschool
  • Gene Rearrangement
  • Humans
  • In Situ Hybridization
  • Infant
  • Neuroectodermal Tumors, Primitive, Peripheral / genetics*
  • Proto-Oncogene Proteins / genetics*
  • RNA-Binding Protein EWS / genetics*
  • Repressor Proteins / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction
  • Sarcoma, Ewing / genetics*
  • Sarcoma, Synovial / genetics*

Substances

  • Proto-Oncogene Proteins
  • RNA-Binding Protein EWS
  • Repressor Proteins
  • SS18 protein, human