1. Discovery of two novel EWSR1/ATF1 transcripts in four chimerical transcripts-expressing clear cell sarcoma and their quantitative evaluation.
- Author
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Jakubauskas A, Valceckiene V, Andrekute K, Seinin D, Kanopka A, and Griskevicius L
- Subjects
- Activating Transcription Factor 1 metabolism, Adult, Calmodulin-Binding Proteins metabolism, Chromosome Breakpoints, Chromosomes, Human, Pair 22 genetics, Electrophoresis, Capillary, Gene Expression Regulation, Neoplastic, Humans, Immunohistochemistry, In Situ Hybridization, Fluorescence, Magnetic Resonance Spectroscopy, Male, RNA, Messenger genetics, RNA, Messenger metabolism, RNA-Binding Protein EWS, RNA-Binding Proteins metabolism, Reverse Transcriptase Polymerase Chain Reaction, Sarcoma, Clear Cell pathology, Tibia pathology, Activating Transcription Factor 1 genetics, Calmodulin-Binding Proteins genetics, RNA-Binding Proteins genetics, Sarcoma, Clear Cell genetics
- Abstract
The most common recurrent translocation in clear cell sarcoma t(12;22)(q13;q12) results in an EWSR1/ATF1 chimeric gene. We present a molecular analysis of tumor overgrowing right proximal tibia with bone destruction metastatic to two groin lymph nodes. Fluorescent in situ hybridization analysis performed on paraffin-embedded tissue sections of primary tumor sample indicated one rearranged locus of EWSR1 gene and one additional red signal. Reverse transcription-polymerase chain reaction analysis revealed the presence of four different EWSR1/ATF1 chimerical transcripts in the tumor sample as well as in both metastatic lymph nodes. Two previously described transcripts EWSR1exon7/ATF1exon5 and EWSR1exon8/ATF1exon4, and two novel transcripts EWSR1exon7/ATF1exon4 and EWSR1exon9/ATF1exon4 were identified. Both novel transcripts were out-of-frame fusions and, therefore, most likely had limited biological impact in oncogenesis of clear cell sarcoma. Quantitative evaluation demonstrated unequal distribution of these transcripts, with EWSR1exon8/ATF1exon4 type being overexpressed., (Copyright © 2010 Elsevier Inc. All rights reserved.)
- Published
- 2011
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