Discovery of two novel EWSR1/ATF1 transcripts in four chimerical transcripts-expressing clear cell sarcoma and their quantitative evaluation

作者：Jakubauskas Arturas^*; Valceckiene Vilma; Andrekute Kristina; Seinin Dmitrij; Kanopka Arvydas; Griskevicius Laimonas

来源：Experimental and Molecular Pathology, 2011, 90(2): 194-200.

DOI：10.1016/j.yexmp.2010.12.005

• Clear cell sarcoma
• Chimerical transcript
• EWSR1/ATF1
• FISH
• qPCR

The most common recurrent translocation in clear cell sarcoma 412;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/ATF1 exon5 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.

• 出版日期2011-4