Dual-color, break-apart FISH assay on paraffin-embedded tissues as an adjunct to diagnosis of Xp11 translocation renal cell carcinoma and alveolar soft part sarcoma

Minghao Zhong, Patricia De Angelo, Lisa Osborne, Megan Keane-Tarchichi, Michael Goldfischer, Lisa Edelmann, Youfeng Yang, W. Marston Linehan, Maria J. Merino, Seena Aisner, Meera Hameed

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99 Scopus citations

Abstract

Both Xp11.2 translocation renal cell carcinoma (RCC) and alveolar soft part sarcoma (ASPS) are characterized by various translocations disrupting chromosome Xp11.2, which result in gene fusions involving the TFE3 transcription factor gene. Diagnostic tools to detect translocations involving the TFE3 gene on chromosome X would be valuable in the evaluation of these tumors. We developed a dual-color, break-apart fluorescence in situ hybridization (FISH) assay to identify the chromosomal break point in paraffin-embedded tissue. This assay was validated using 4 cases of Xp11.2 RCC [proven by karyotype and/or reverse-transcriptase polymerase chain reaction (RT-PCR)], 2 cases of ASPS (proven by karyotype or RT-PCR), the UOK109 cell line carrying the inv(X) (p11;q12), and several negative controls (both neoplastic and non-neoplastic). This break-apart FISH assay is a relatively quick procedure for detecting Xp11.2 RCC and ASPS translocations and can be applied to archival paraffin-embedded tissue.

Original languageEnglish
Pages (from-to)757-766
Number of pages10
JournalAmerican Journal of Surgical Pathology
Volume34
Issue number6
DOIs
StatePublished - Jun 2010

Keywords

  • Alveolar soft part sarcoma
  • FISH
  • Xp11 translocation renal cell carcinoma

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