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.

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.
Authors	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
Journal	The American journal of surgical pathology (Am J Surg Pathol) Vol. 34 Issue 6 Pg. 757-66 (Jun 2010) ISSN: 1532-0979 [Electronic] United States
PMID	20421778 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References	Basic Helix-Loop-Helix Leucine Zipper Transcription Factors TFE3 protein, human
Topics	Adult Aged Basic Helix-Loop-Helix Leucine Zipper Transcription Factors (genetics) Carcinoma, Renal Cell (diagnosis, genetics) Chromosome Aberrations Chromosomes, Human, Pair 11 (genetics) Chromosomes, Human, X (genetics) Female Humans Immunohistochemistry In Situ Hybridization, Fluorescence (methods) Kidney Neoplasms (diagnosis, genetics) Male Middle Aged Paraffin Embedding Reverse Transcriptase Polymerase Chain Reaction Sarcoma, Alveolar Soft Part (diagnosis, genetics) Sensitivity and Specificity Translocation, Genetic

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