Kim Hyo Jung, Kang Chang Don, Lee Sung Joon, Cho Sung Jin, Kim Jae Seon
Department of Internal Medicine, Kangwon National University College of Medicine, Chuncheon, Korea.
Korean J Gastroenterol. 2006 Sep;48(3):188-94.
BACKGROUNDS/AIM: Intrahepatic cholangiocarcinoma is the second most common intrahepatic neoplasm. Carcinogenesis is believed to be a multistage process that occurs as a result of mutations in oncogenes and tumor suppressor genes. Loss of heterozygosity (LOH) is the phenotype of genetic instability which has been used as a tool for detecting genetic phenotype alterations. Large number of the molecular alterations have been described in human cancer. Among them, that of p53 is quite common. The aim of this study was to determine the frequency of LOH at chromosome 17p related with p53.
Twenty cases who underwent hepatic resection due to intrahepatic cholangiocarcinoma, were included. LOH was analysed with four microsatellite markers by PCR. For the clinicopathologic parameters, tumor size, differentiation, and metastasis were evaluated.
Fifteen patients (75%) showed LOH at one of the loci at the least. Five patients were LOH-high and 10 were LOH-low. The highest frequency of LOH was observed at D17S5 by 38.9%. Those of TP53, D17S796 and D17S513 were 29.4%, 21.4% and 35.3%, respectively. In addition, LOH tended to be more frequent when the tumor is mass forming type, poorly differentiated, or has tumor emboli or vascular invasion.
This study showed that LOH was positive in 75% on chromosome 17p in intrahepatic cholangiocarcinoma which was relatively frequent at D17S5.
背景/目的：肝内胆管癌是第二常见的肝内肿瘤。癌变被认为是一个多阶段过程，是由癌基因和肿瘤抑制基因的突变导致的。杂合性缺失（LOH）是遗传不稳定的表型，已被用作检测遗传表型改变的工具。人类癌症中已描述了大量的分子改变。其中，p53的改变相当常见。本研究的目的是确定与p53相关的17号染色体短臂上杂合性缺失的频率。
纳入因肝内胆管癌接受肝切除术的20例患者。通过聚合酶链反应（PCR）用四个微卫星标记分析杂合性缺失。对于临床病理参数，评估肿瘤大小、分化程度和转移情况。
15例患者（75%）至少在一个位点显示杂合性缺失。5例患者杂合性缺失程度高，10例患者杂合性缺失程度低。在D17S5位点观察到的杂合性缺失频率最高，为38.9%。TP53、D17S796和D17S513位点的杂合性缺失频率分别为29.4%、21.4%和35.3%。此外，当肿瘤为肿块形成型、低分化或有肿瘤栓子或血管侵犯时，杂合性缺失往往更常见。
本研究表明，肝内胆管癌17号染色体短臂上杂合性缺失阳性率为75%，在D17S5位点相对常见。
