Pellín A, Monteagudo C, López-Ginés C, Carda C, Boix J, Llombart-Bosch A
Department of Pathology, Medical School, University of Valencia, Spain.
Genes Chromosomes Cancer. 1998 Dec;23(4):358-60.
We report a new case of clear cell sarcoma (CCS) harboring the t(12;22)(q13;q12). Reverse transcription-polymerase chain reaction (RT-PCR) analysis revealed the presence of a chimeric transcript between the EWS and ATFI genes, both in primary and metastatic tissue. Sequencing studies disclosed an in-frame fusion between EWS gene codon 265 and ATFI gene codon 110. This breakpoint has not been reported previously and indicates an important in vivo loss of EWS and ATFI gene domains, which could be associated with the unusually aggressive behavior of this tumor.
我们报告了一例携带t(12;22)(q13;q12)的透明细胞肉瘤（CCS）新病例。逆转录聚合酶链反应（RT-PCR）分析显示，在原发性和转移性组织中均存在EWS和ATF1基因之间的嵌合转录本。测序研究揭示了EWS基因密码子265与ATF1基因密码子110之间的读码框内融合。该断点此前未见报道，表明EWS和ATF1基因结构域在体内发生了重要缺失，这可能与该肿瘤异常侵袭性的行为有关。
