Minoletti F, Miozzo M, Pedeutour F, Sard L, Pilotti S, Azzarelli A, Turc-Carel C, Pierotti M A, Sozzi G
Division of Experimental Oncology, Istituto Nazionale Tumori, Milan, Italy.
Genes Chromosomes Cancer. 1995 May;13(1):62-5. doi: 10.1002/gcc.2870130110.
Literature on the cytogenetics of dermatofibrosarcoma protuberans (DFSP) is limited; only 10 cases with chromosome aberrations have been reported. They are karyotypically characterized by the presence of supernumerary ring(s), either as the sole cytogenetic abnormality or together with a few additional structural or numerical changes. We report the cytogenetic and fluorescence in situ hybridization (FISH) analysis of three new DFSP, one primary and two recurrent tumors. In two cases we found a supernumerary ring as the sole change, whereas the third had two copies of a marker chromosome and monosomy of chromosome 22. Sequences of chromosomes 17 and 22 were identified by FISH in the supernumerary rings and in the markers. The fluorescence pattern suggested that additional sequences were present in the two rings, but showed that the marker chromosomes were entirely painted by chromosome 17 and 22 probes. The findings indicate that juxtaposition and/or amplification of chromosome 17 and 22 sequences could be crucial in the pathogenesis of DFSP.
隆突性皮肤纤维肉瘤（DFSP）细胞遗传学方面的文献有限；仅报道了10例有染色体畸变的病例。它们的核型特征是存在额外的环状染色体，这要么是唯一的细胞遗传学异常，要么与一些其他结构或数目改变同时存在。我们报告了3例新的DFSP的细胞遗传学和荧光原位杂交（FISH）分析结果，其中1例为原发性肿瘤，2例为复发性肿瘤。在2例病例中，我们发现额外的环状染色体是唯一的改变，而第3例有一条标记染色体的两个拷贝以及22号染色体单体性。通过FISH在额外的环状染色体和标记染色体中鉴定出了17号和22号染色体的序列。荧光模式表明两个环状染色体中存在额外的序列，但显示标记染色体完全被17号和22号染色体探针标记。这些发现表明17号和22号染色体序列的并置和/或扩增可能在DFSP的发病机制中起关键作用。
