title: 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.affiliation: Pathology and Laboratory Medicine, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ, USA. Hameedm@mskcc.org
authors.forename: Minghao
authors.initials: M
authors.lastname: Zhong
authors.forename: Patricia
authors.initials: P
authors.lastname: De Angelo
authors.forename: Lisa
authors.initials: L
authors.lastname: Osborne
authors.forename: Megan
authors.initials: M
authors.lastname: Keane-Tarchichi
authors.forename: Michael
authors.initials: M
authors.lastname: Goldfischer
authors.forename: Lisa
authors.initials: L
authors.lastname: Edelmann
authors.forename: Youfeng
authors.initials: Y
authors.lastname: Yang
authors.forename: W Marston
authors.initials: WM
authors.lastname: Linehan
authors.forename: Maria J
authors.initials: MJ
authors.lastname: Merino
authors.forename: Seena
authors.initials: S
authors.lastname: Aisner
authors.forename: Meera
authors.initials: M
authors.lastname: Hameed
mesh_terms: D000328:Adult; D000368:Aged; D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000175:diagnosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007680:Kidney Neoplasms / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016612:Paraffin Embedding; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018234:Sarcoma, Alveolar Soft Part / Q000175:diagnosis / Q000235:genetics*; D012680:Sensitivity and Specificity; D014178:Translocation, Genetic
chemical_list: D051778:Basic Helix-Loop-Helix Leucine Zipper Transcription Factors; C069203:TFE3 protein, human