Diagnostic utility of EWS break-apart fluorescence in situ hybridization in distinguishing between non-cutaneous melanoma and clear cell sarcoma

Pathol Int. 2010 Sep;60(9):608-13. doi: 10.1111/j.1440-1827.2010.02570.x.

Abstract

Clear cell sarcoma (CCS) is a rare soft tissue sarcoma with morphological similarities to malignant melanoma (MM), but with a distinct genetic background that includes the chromosomal translocation t(12;22)(q13;q12). Clear cell sarcoma is often misdiagnosed as MM because of similarities in target locations and immunophenotypes. Eighteen cases with MM in non-cutaneous sites were subjected to fluorescence in situ hybridization (FISH) to assess EWS gene breakage. Tissue microarrays were constructed using formalin-fixed, paraffin-embedded tissue and the EWSR1 (22q12) dual-color, break-apart rearrangement probe (Vysis) was used. Two patients were classified as CCS with EWS gene rearrangement, with a mean of 67.5% positive cells per sample according to break-apart FISH. The remaining 16 patients lacked break-apart signals of the EWS gene. The presence of type 1 (EWS exon 8-ATF1 exon 4) fusion transcripts was confirmed in FISH-positive patients by RT-PCR. Retrospective analysis revealed that the masses were located in the foot and buttock, respectively. Morphologically, tumor cells were not typical for those of CCS or MM. Break-apart FISH is an accurate and convenient method for differentiating between MM and CCS. Molecular detection of EWS gene rearrangement, either by break-apart FISH or RT-PCR, is mandatory in subjects with melanotic tumors of soft tissue.

Publication types

  • Evaluation Study

MeSH terms

  • Adult
  • Aged
  • Diagnosis, Differential
  • Exons / genetics
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence / methods*
  • Male
  • Melanoma / diagnosis*
  • Melanoma / genetics
  • Middle Aged
  • Oligonucleotide Array Sequence Analysis
  • RNA-Binding Protein EWS / genetics*
  • Retrospective Studies
  • Sarcoma, Clear Cell / diagnosis*
  • Sarcoma, Clear Cell / genetics
  • Soft Tissue Neoplasms / diagnosis*
  • Soft Tissue Neoplasms / genetics
  • Translocation, Genetic / genetics

Substances

  • RNA-Binding Protein EWS