Chen Yi, Tzeng Ching-Cherng, Liou Chiou-Ping, Chang Ming-Yu, Li Chien-Feng, Lin Ching-Nan
Department of Surgery, Chi-Mei Foundation Hospital, 901 Chung-Hwa Road, Yungkang, Tainan 710, Taiwan, ROC.
J Biomed Sci. 2004 Jan-Feb;11(1):65-71. doi: 10.1007/BF02256550.
Gastrointestinal stromal tumors (GISTs) are the most common mesenchymal tumors of the gastrointestinal tract. Current criteria for the diagnosis of malignant GISTs do not always reliably predict patient outcomes. In order to search for genetic markers with prognostic potential, chromosomal imbalance aberrations (CIAs) were analyzed in 28 subjects with GIST using comparative genomic hybridization and correlated with clinicopathological features. Except for a small rectal tumor, CIAs were identified in all GISTs, including 14 from the stomach, 11 from the small intestine, 1 from the esophagus, and 1 from the rectum. Losses were more common than gains. The median number of CIAs in high-risk GISTs was significantly higher than that in low-risk GISTs (5.60 +/- 2.59 vs. 3.38 +/- 2.55; p < 0.05), especially for losses (4.60 +/- 1.84 vs. 2.63 +/- 2.13; p < 0.01). Loss of 14q was the most common CIA in both low-risk and high-risk GISTs, and can be regarded as an early event of GIST development. Losses of 1p and 15q were also very common, often coexisting, and were slightly more frequent in high-risk GISTs than in low-risk GISTs. Other recurrent CIAs, including losses of 10q, 13q, 15q, 18q, and 22q and gains of 5p, 12q, 17q, and 20q were relatively less common in this series. Among these CIAs, losses of 13q, 10q (with minimal overlapping on q11-q22), and 22q were most likely the chromosomal loci potentially harboring the tumor suppressor gene(s) which may be related to early recurrence and/or metastasis during malignant transformation of GISTs.
胃肠道间质瘤（GISTs）是胃肠道最常见的间充质肿瘤。目前诊断恶性GISTs的标准并不总能可靠地预测患者的预后。为了寻找具有预后潜力的基因标志物，采用比较基因组杂交技术对28例GIST患者的染色体不平衡畸变（CIA）进行分析，并与临床病理特征进行相关性研究。除1例小的直肠肿瘤外，所有GISTs均检测到CIA，其中胃来源14例，小肠来源11例，食管来源1例，直肠来源1例。缺失比获得更常见。高危GISTs的CIA中位数显著高于低危GISTs（5.60±2.59 vs. 3.38±2.55；p<0.05），尤其是缺失（4.60±1.84 vs. 2.63±2.13；p<0.01）。14q缺失是低危和高危GISTs中最常见的CIA，可被视为GIST发展的早期事件。1p和15q缺失也非常常见，常同时存在，且在高危GISTs中比在低危GISTs中略为频繁。其他复发性CIA，包括10q、13q、15q、18q和22q缺失以及5p、12q、17q和20q获得，在本系列中相对较少见。在这些CIA中，13q、10q（在q11-q22上有最小重叠）和22q缺失最有可能是潜在携带肿瘤抑制基因的染色体位点，这些基因可能与GISTs恶性转化过程中的早期复发和/或转移有关。
