Gambichler Thilo, Pantelaki Ioanna, Othlinghaus Nick, Moritz Rose K C, Stricker Ingo, Skrygan Marina
Department of Dermatology, Ruhr-University Bochum, Bochum, Germany.
Cancer Genet. 2012 Apr;205(4):182-5. doi: 10.1016/j.cancergen.2012.02.001.
Clear cell sarcoma (CCS) of tendons and aponeuroses is an aggressive neoplasm that is characterized by a pathognomonic translocation, t(12;22)(q13;q12), resulting in an EWSR1-ATF1 chimeric gene. We report for the first time a female patient with CCS exhibiting both EWSR1-ATF1 fusion transcripts and hereditary homozygous point mutations in introns 11 and 16 of the KIT gene. Her parents and two brothers each had heterozygous point mutations in intron 11 or intron 16 of the KIT gene. The functional significance of these germline deep intronic point mutations and their relationship to the pathogenesis of CCS are unclear. Future studies investigating KIT intron mutations in a larger cohort of CCS patients are warranted.
腱膜透明细胞肉瘤（CCS）是一种侵袭性肿瘤，其特征为具有特征性的易位t(12;22)(q13;q12)，导致EWSR1-ATF1嵌合基因的产生。我们首次报告了一名患有CCS的女性患者，其同时表现出EWSR1-ATF1融合转录本以及KIT基因第11和16内含子中的遗传性纯合点突变。她的父母和两个兄弟在KIT基因的第11内含子或第16内含子中均有杂合点突变。这些种系深内含子点突变的功能意义及其与CCS发病机制的关系尚不清楚。有必要开展进一步研究，在更大规模的CCS患者队列中调查KIT内含子突变情况。
