PMID- 20421778 OWN - NLM STAT- MEDLINE DCOM- 20100615 LR - 20220208 IS - 1532-0979 (Electronic) IS - 0147-5185 (Print) IS - 0147-5185 (Linking) VI - 34 IP - 6 DP - 2010 Jun TI - 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. PG - 757-66 LID - 10.1097/PAS.0b013e3181dd577e [doi] AB - 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. FAU - Zhong, Minghao AU - Zhong M AD - Pathology and Laboratory Medicine, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark, NJ, USA. Hameedm@mskcc.org FAU - De Angelo, Patricia AU - De Angelo P FAU - Osborne, Lisa AU - Osborne L FAU - Keane-Tarchichi, Megan AU - Keane-Tarchichi M FAU - Goldfischer, Michael AU - Goldfischer M FAU - Edelmann, Lisa AU - Edelmann L FAU - Yang, Youfeng AU - Yang Y FAU - Linehan, W Marston AU - Linehan WM FAU - Merino, Maria J AU - Merino MJ FAU - Aisner, Seena AU - Aisner S FAU - Hameed, Meera AU - Hameed M LA - eng GR - Z01 BC010696/ImNIH/Intramural NIH HHS/United States GR - Z01 SC006659/ImNIH/Intramural NIH HHS/United States PT - Journal Article PT - Research Support, Non-U.S. Gov't PL - United States TA - Am J Surg Pathol JT - The American journal of surgical pathology JID - 7707904 RN - 0 (Basic Helix-Loop-Helix Leucine Zipper Transcription Factors) RN - 0 (TFE3 protein, human) SB - IM MH - Adult MH - Aged MH - Basic Helix-Loop-Helix Leucine Zipper Transcription Factors/genetics MH - Carcinoma, Renal Cell/diagnosis/*genetics MH - Chromosome Aberrations MH - Chromosomes, Human, Pair 11/*genetics MH - Chromosomes, Human, X/*genetics MH - Female MH - Humans MH - Immunohistochemistry MH - In Situ Hybridization, Fluorescence/*methods MH - Kidney Neoplasms/diagnosis/*genetics MH - Male MH - Middle Aged MH - Paraffin Embedding MH - Reverse Transcriptase Polymerase Chain Reaction MH - Sarcoma, Alveolar Soft Part/diagnosis/*genetics MH - Sensitivity and Specificity MH - Translocation, Genetic PMC - PMC7386799 MID - NIHMS1602313 EDAT- 2010/04/28 06:00 MHDA- 2010/06/16 06:00 PMCR- 2020/07/28 CRDT- 2010/04/28 06:00 PHST- 2010/04/28 06:00 [entrez] PHST- 2010/04/28 06:00 [pubmed] PHST- 2010/06/16 06:00 [medline] PHST- 2020/07/28 00:00 [pmc-release] AID - 10.1097/PAS.0b013e3181dd577e [doi] PST - ppublish SO - Am J Surg Pathol. 2010 Jun;34(6):757-66. doi: 10.1097/PAS.0b013e3181dd577e.