Translocation of chromosomes 11 and 22 in choroidal metastatic Ewing sarcoma detected by fluorescent in situ hybridization

Am J Ophthalmol. 1999 Feb;127(2):226-8. doi: 10.1016/s0002-9394(98)00295-5.

Abstract

Purpose: To describe a patient with metastasis of Ewing sarcoma to the choroid and the molecular genetics of the tumor.

Methods: A 26-year-old woman with metastatic Ewing sarcoma developed large choroidal masses in the left eye and died 2 months later. Autopsy of the eyes was performed. Dual-color fluorescent in situ hybridization was used to detect genetic alteration in the ocular tumor with EWS and FLI-1 probes.

Results: Histopathology confirmed choroidal metastatic Ewing sarcoma. Molecular analysis showed chromosomal translocation t(11;22)(q24;q12) or EWS/FLI-1 rearrangement in the malignant cells of the eye.

Conclusions: Ewing sarcoma can rarely metastasize to the uvea. Molecular detection of the t(11;22)(q24;q12) translocation in Ewing sarcoma is valuable in the differential diagnosis of small round cell tumors.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Bone Neoplasms / genetics*
  • Bone Neoplasms / pathology
  • Choroid Neoplasms / genetics*
  • Choroid Neoplasms / secondary
  • Chromosomes, Human, Pair 11 / genetics*
  • Chromosomes, Human, Pair 22 / genetics*
  • DNA, Neoplasm / analysis
  • Fatal Outcome
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Oncogene Proteins, Fusion / genetics
  • Pelvic Bones
  • Proto-Oncogene Protein c-fli-1
  • RNA-Binding Protein EWS
  • Sarcoma, Ewing / genetics*
  • Sarcoma, Ewing / secondary
  • Transcription Factors / genetics
  • Translocation, Genetic*

Substances

  • DNA, Neoplasm
  • EWS-FLI fusion protein
  • Oncogene Proteins, Fusion
  • Proto-Oncogene Protein c-fli-1
  • RNA-Binding Protein EWS
  • Transcription Factors