EWS/FLI-1 fusion transcript detection and MIC2 immunohistochemical staining in the diagnosis of Ewing's sarcoma

C. S. Lee, Melissa C. Southey, Keith Waters, George Kannourakis, Toula Georgiou, Jane E. Armes, Chung Wo Chow, Deon J. Venter

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Abstract

Ewing's sarcoma (ES) and other primitive peripheral neuroectodermal tumors (pPNETs) can present a significant diagnostic problem, as they may morphologically resemble other small round cell tumors (SRCTs) of childhood. However, ES/pPNET is known to carry a characteristic t(11;22)(q24;q12), the detection of which may aid diagnosis. The recent identification of the EWS and FLI-I genes flanking the translocation break point has enabled reverse transcriptase-polymerase chain reaction (RT-PCR) to be used to detect the putative chimeric transcription factor mRNA produced by the fusion gene. We have assessed the RT-PCR method detection by examining, 40 cases of ES for the presence of EWS/FLI-1 transcripts. Twenty-six (76%) of the 34 cases with intact mRNA yielded fusion transcripts. Four different transcript sizes were detected and two tumors contained two transcripts of different size. No transcripts were detected in a control group of non-ES/pPNET SRCTs. Eight cases with intact mRNA were transcript negative. The MIC2 cell surface antigen, which is reported to be present in over 95 % of ES/pPNETs, was present in 32 of 33 tumors (97%), including all 24 EWS/FLI-1 transcript- positive cases examined. Hence MIC2 is a useful screen for ES, with RT-PCR detection of t(11;22) being the optimal method for confirming the diagnosis.

Original languageEnglish
Pages (from-to)379-392
Number of pages14
JournalPediatric Pathology & Laboratory Medicine
Volume16
Issue number3
DOIs
Publication statusPublished - 1 Jan 1996
Externally publishedYes

Keywords

  • Ewing's sarcoma
  • MIC2
  • polymerase chain reaction
  • primitive neuroectodermal tumor

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