[肾癌中3号染色体短臂杂合性缺失]

[The loss of heterozygosity on the short arm of chromosome 3 in renal carcinoma].

作者信息

Maestro de las Casas M L, del Barco Barriuso V, Moreno Sierra J, Izquierdo López L, Sanz Casla M T, Zanna I, Redondo González E, Chicharro Almarza J, Fernández Pérez C, Resel Estévez L

机构信息

Servicio de Análisis Clínicos, Biología Tumoral, Hospital Universitario San Carlos, Madrid.

出版信息

Arch Esp Urol. 1999 Jan-Feb;52(1):3-9.

PMID:10101881

Abstract

OBJECTIVE

Renal cancer accounts for 2% of tumors. The most common chromosome abnormality found in renal cancer is the loss of heterozygosity (LOH) on the short arm of chromosome 3 (3p), which suggests that near the gene responsible for von Hippel-Lindau disease, there may be one or more tumor suppressor genes between 3p14 and 3p21 with a relevant role in the development of renal cancer.

METHODS

41 patients with sporadic renal cancer were tested for three microsatellites mapped to the short arm of chromosome 3 (3p14.1-3p14.3, 3p21.2-3p21.3 and 3p25) by polymerase chain reaction. The results were compared with patient habits and tumor features.

RESULTS/CONCLUSIONS: 43.9% of the patients showed LOH on at least one locus. Thirty-four percent showed LOH only on one locus, 4.9% on two loci and 7.3% on the three loci tested. All the patients who showed LOH on 3p21 had a tumor size greater than 25 mm. There is a risk 1.76 times higher of no loss in tumors less than 25 mm in size than in tumors greater than 25 mm (Cl 95% 1.33-2.33).

摘要

目的

肾癌占肿瘤的2%。肾癌中最常见的染色体异常是3号染色体短臂（3p）的杂合性缺失（LOH），这表明在与冯·希佩尔-林道病相关基因附近，3p14和3p21之间可能存在一个或多个在肾癌发生中起相关作用的肿瘤抑制基因。

方法

通过聚合酶链反应对41例散发性肾癌患者进行了位于3号染色体短臂（3p14.1 - 3p14.3、3p21.2 - 3p21.3和3p25）的三个微卫星检测。将结果与患者的习惯和肿瘤特征进行比较。

结果/结论：43.9%的患者在至少一个位点显示杂合性缺失。34%的患者仅在一个位点显示杂合性缺失，4.9%在两个位点，7.3%在检测的三个位点。所有在3p21显示杂合性缺失的患者肿瘤大小均大于25 mm。小于25 mm的肿瘤无缺失的风险比大于25 mm的肿瘤高1.76倍（95%置信区间1.33 - 2.33）。