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

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...

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Published in:	The American journal of surgical pathology Vol. 34; no. 6; pp. 757 - 766
Main Authors:	MINGHAO ZHONG, DE ANGELO, Patricia, HAMEED, Meera, OSBORNE, Lisa, KEANE-TARCHICHI, Megan, GOLDFISCHER, Michael, EDELMANN, Elisa, YOUFENG YANG, LINEHAN, W. Marston, MERINO, Maria J, AISNER, Seena
Format:	Journal Article
Language:	English
Published:	Hagerstown, MD Lippincott Williams & Wilkins 01-06-2010
Subjects:	Adult Aged Basic Helix-Loop-Helix Leucine Zipper Transcription Factors - genetics Biological and medical sciences Carcinoma, Renal Cell - diagnosis Carcinoma, Renal Cell - genetics Chromosome Aberrations Chromosomes, Human, Pair 11 - genetics Chromosomes, Human, X - genetics Female Humans Immunohistochemistry In Situ Hybridization, Fluorescence - methods Investigative techniques, diagnostic techniques (general aspects) Kidney Neoplasms - diagnosis Kidney Neoplasms - genetics Kidneys Male Medical genetics Medical sciences Middle Aged Nephrology. Urinary tract diseases Paraffin Embedding Pathology. Cytology. Biochemistry. Spectrometry. Miscellaneous investigative techniques Reverse Transcriptase Polymerase Chain Reaction Sarcoma, Alveolar Soft Part - diagnosis Sarcoma, Alveolar Soft Part - genetics Sensitivity and Specificity Translocation, Genetic Tumors of the urinary system Chromosomal aberration Carcinoma alveolar soft part sarcoma Break Paraffin Assay Tissue Fluorescence in situ hybridization Grawitz tumor Fish X-Chromosome Diagnosis Coloration Chromosome translocation Kidney disease Urinary system disease Color Xp11 translocation renal cell carcinoma Malignant tumor Alveolar sarcoma Anatomic pathology Kidney cancer Cytogenetics Abnormal chromosome Soft tissue Cancer
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Summary:	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.
ISSN:	0147-5185 1532-0979
DOI:	10.1097/pas.0b013e3181dd577e