Pedeutour F, Simon M P, Minoletti F, Sozzi G, Pierotti M A, Hecht F, Turc-Carel C
Laboratoire de Génetique Moléculaire des Cancers Humains, Centre National de la Recherche Scientifique URA 1462, Faculté de Médecine, Nice, France.
Cancer Res. 1995 Jun 1;55(11):2400-3.
Ring chromosomes have been found with some regularity as solid tumors have come increasingly under cytogenetic study. The full genetic content and significance of these rings remain unclear. Dermatofibrosarcoma protuberans, a tumor of the deep dermis, consistently has supernumerary ring chromosomes, sometimes as the sole detectable cytogenetic change. Using a modified method for comparative genomic hybridization and fluorescent in situ hybridization with a panel of various probes, we found that these ring chromosomes consistently contain the chromosome 22 centromere along with interstitial sequences from chromosomes 17 and 22, specifically from regions 17q23-24 and 22q11-12. The ring chromosomes in dermatofibrosarcoma protuberans are vehicles for a particular pattern of relatively low-level genomic amplification of selected sequences.
随着实体瘤越来越多地接受细胞遗传学研究,人们已较频繁地发现环状染色体。这些环的完整基因内容及意义仍不清楚。隆突性皮肤纤维肉瘤是一种真皮深层肿瘤,始终存在额外的环状染色体,有时这是唯一可检测到的细胞遗传学改变。我们使用改良的比较基因组杂交方法及一系列不同探针进行荧光原位杂交,发现这些环状染色体始终包含22号染色体着丝粒以及17号和22号染色体的间质序列,具体来自17q23 - 24和22q11 - 12区域。隆突性皮肤纤维肉瘤中的环状染色体是特定模式的选定序列相对低水平基因组扩增的载体。