胃肠道间质瘤中的DNA倍体与c-Kit突变
DNA ploidy and c-Kit mutation in gastrointestinal stromal tumors.
作者信息
Lee Ju Han, Zhang Xianglan, Jung Woon Yong, Chae Yang Seok, Park Jong Jae, Kim Insun
机构信息
Department of Pathology, Medical College, Korea University, Seoul, Korea.
出版信息
World J Gastroenterol. 2004 Dec 1;10(23):3475-9. doi: 10.3748/wjg.v10.i23.3475.
AIM
To investigate the prognostic significance of c-Kit gene mutation and DNA ploidy in gastrointestinal stromal tumors (GISTs).
METHODS
A total of 55 cases of GISTs were studied for the expression of c-Kit by immunohistochemistry, and the c-Kit gene mutations in exons 9, 11, 13, and 17 were detected by polymerase chain reaction-single strand confirmation polymarphism (PCR-SSCP) and denaturing high performance liquid chromatography (D-HPLC) techniques. DNA ploidy was determined by flow cytometry.
RESULTS
Of the 55 cases of GISTs, 53 cases (96.4%) expressed c-Kit protein. The c-Kit gene mutations of exons 11 and 9 were found in 30 (54.5%) and 7 cases (12.7%), respectively. No mutations were found in exons 13 and 17. DNA aneuploidy was seen in 10 cases (18.2%). The c-Kit mutation positive GISTs were larger in size than the negative GISTs. The aneuploidy tumors were statistically associated with large size, high mitotic counts, high risk groups, high cellularity and severe nuclear atypia, and epithelioid type. There was a tendency that c-Kit mutations were more frequently found in aneuploidy GISTs.
CONCLUSION
DNA aneuploidy and c-Kit mutations can be considered as prognostic factors in GISTs.
目的
探讨c-Kit基因突变及DNA倍体在胃肠道间质瘤（GISTs）中的预后意义。
方法
采用免疫组织化学法研究55例GISTs中c-Kit的表达，并用聚合酶链反应-单链构象多态性（PCR-SSCP）及变性高效液相色谱（D-HPLC）技术检测外显子9、11、13和17的c-Kit基因突变。通过流式细胞术测定DNA倍体。
结果
55例GISTs中，53例（96.4%）表达c-Kit蛋白。外显子11和9的c-Kit基因突变分别见于30例（54.5%）和7例（12.7%）。外显子13和17未发现突变。10例（18.2%）见DNA非整倍体。c-Kit突变阳性的GISTs比阴性的体积大。非整倍体肿瘤在统计学上与肿瘤体积大、核分裂象多、高危组、细胞丰富及重度核异型性和上皮样型相关。非整倍体GISTs中c-Kit突变更常见。
结论
DNA非整倍体和c-Kit突变可被视为GISTs的预后因素。
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