Adamantinoma-like Ewing's sarcoma: Genomic confirmation, phenotypic drift

Julia A. Bridge, Mary E. Fidler, James R. Neff, Joanne Degenhardt, Mei Wang, Craig Walker, Howard D. Dorfman, K. Scott Baker, Thomas A. Seemayer

Research output: Contribution to journalArticle

76 Scopus citations

Abstract

Ewing's sarcoma, a highly malignant neoplasm, is characterized by an 11;22 translocation [t(11 ;22) (q24;q12)], resulting in the fusion of genes FLII and EWS. Adamantinoma of extragnathic bones, a low-grade malignant neoplasm with epithelial features, is not typically considered in the differential diagnosis of Ewing's sarcoma. In this study, three osseous Ewing's sarcomas with histological, immunohistochemical, or ultrastructural epithelial features were subjected to reverse transcription-polymerase chain reaction and sequencing studies for the Ewing's sarcoma molecular rearrangement. (Two of the three cases were originally described as adamantinomas or nontypical Ewing's sarcoma before the availability of genetic characterization.) In addition, traditional cytogenetic analysis and a unique combined interphase molecular cytogenetic/ immunocytochemical approach with bicolor 11;22 translocation breakpoint flanking probes (cosmids) and pancytokeratin antibodies were performed on one neoplasm. A t(11;22) (q24;q12) was found in one neoplasm and a type II EWS/FLI-I fusion transcript was detected in all three neoplasms. The combined genetic/immunocytochemical approach revealed the presence of the 11;22 translocation in the nuclei of cytokeratin immunoreactive cells. These genotypic and phenotypic findings delineate a novel Ewing's sarcoma histologic variant, 'adamantinoma-like Ewing's sarcoma'.

Original languageEnglish (US)
Pages (from-to)159-165
Number of pages7
JournalAmerican Journal of Surgical Pathology
Volume23
Issue number2
DOIs
StatePublished - Feb 1 1999

Keywords

  • Adamantinoma
  • EWS/FLI1
  • Ewing's sarcoma
  • Karyotype
  • RT/PCR

ASJC Scopus subject areas

  • Anatomy
  • Surgery
  • Pathology and Forensic Medicine

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    Bridge, J. A., Fidler, M. E., Neff, J. R., Degenhardt, J., Wang, M., Walker, C., Dorfman, H. D., Baker, K. S., & Seemayer, T. A. (1999). Adamantinoma-like Ewing's sarcoma: Genomic confirmation, phenotypic drift. American Journal of Surgical Pathology, 23(2), 159-165. https://doi.org/10.1097/00000478-199902000-00004