el-Rifai W, Sarlomo-Rikala M, Miettinen M, Knuutila S, Andersson L C
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Cancer Res. 1996 Jul 15;56(14):3230-3.
The DNA copy number changes were investigated in 13 malignant, 3 borderline, and 16 benign gastrointestinal stromal tumors (GISTs) by comparative genomic hybridization. A consistent finding was the loss of DNA copy numbers in chromosome 14q. This was detected in 75% of the benign tumors, in 62% of the malignant tumors, and in two out of the three borderline tumors with a minimal overlapping region located to 14q22. Losses of DNA copy numbers were more frequent than gains, with 2-10 changes in malignant GISTs and 1-3 changes in benign tumors. High-level DNA amplifications, detected only in malignant GISTs, were assigned to 3q26-q29 (40%), 5p (30%), and 8q22-24 (40%). Our results indicate that copy number losses in 14q are an early change during oncogenesis of GISTs and suggest the possibility that a new tumor suppressor gene at 14q22 might be involved in the regulation of differentiation or proliferation of such mesenchymal cells.
通过比较基因组杂交技术,对13例恶性、3例交界性和16例良性胃肠道间质瘤(GIST)进行了DNA拷贝数变化研究。一个一致的发现是14号染色体长臂(14q)的DNA拷贝数缺失。在75%的良性肿瘤、62%的恶性肿瘤以及3例交界性肿瘤中的2例中检测到了这种缺失,最小重叠区域定位于14q22。DNA拷贝数缺失比增加更为常见,恶性GIST中有2 - 10处变化,良性肿瘤中有1 - 3处变化。仅在恶性GIST中检测到的高水平DNA扩增定位于3q26 - q29(40%)、5p(30%)和8q22 - 24(40%)。我们的结果表明,14q的拷贝数缺失是GIST肿瘤发生过程中的早期变化,并提示14q22处可能存在一个新的肿瘤抑制基因,它可能参与调控此类间充质细胞的分化或增殖。