Jornal Brasileiro de Patologia e Medicina Laboratorial ()

Molecular analysis of translocations associated with Ewing sarcoma: case report

  • Leonardo R. Soares,
  • Hugo A. Bayeh,
  • Izabela Cristina Albuquerque,
  • Marise A. R. Moreira,
  • Miguel A. C. Coutinho,
  • Debora F. Rodrigues,
  • Paula O. C. Queiroz,
  • Ruffo Freitas-Junior

DOI
https://doi.org/10.5935/1676-2444.20190020

Abstract

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ABSTRACT We report the case of a 25-year-old female patient having a large lesion in the right breast. The core biopsy revealed a high-grade fusocellular neoplasm. Immunostains show no evidence of a specific line of differentiation. The patient underwent radical surgery and adjuvant treatment. Due to the immunohistochemical profile and the rosette arrangement in fusocellular injury, a molecular evaluation of translocations associated to the Ewing sarcoma (ES) was made. However, translocations commonly associated with this disease [t(11;22)(q24;q12)] were not observed. The present report can contribute to the diagnostic investigation of similar cases and to the pre-test orientation of the molecular evaluation.

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