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首页> 外文期刊>World Journal of Gastroenterology >DNA ploidy and c-Kit mutation in gastrointestinal stromal tumors
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DNA ploidy and c-Kit mutation in gastrointestinal stromal tumors

机译：胃肠道间质瘤中的DNA倍性和c-Kit突变

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AIM: To investigate the prognostic significance of c-Kit gene mutation and DNA ploidy in gastointestinal 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.
机译：目的：探讨c-Kit基因突变和DNA倍体在胃肠道间质瘤（GISTs）中的预后意义。方法：采用免疫组织化学方法对55例GIST的c-Kit表达进行了研究，并通过聚合酶链反应-单链确证多态性检测了9、11、13和17外显子的c-Kit基因突变（ PCR-SSCP）和变性高效液相色谱（D-HPLC）技术。 DNA倍性通过流式细胞术确定。结果：55例GIST中，有53例（96.4％）表达c-Kit蛋白。分别在30例（54.5％）和7例（12.7％）中发现外显子11和9的c-Kit基因突变。在第13外显子和第17外显子中未发现突变。在10例病例中发现了DNA非整倍性（18.2％）。 c-Kit突变阳性GIST的大小大于阴性GIST。非整倍性肿瘤在统计学上与大尺寸，高有丝分裂计数，高危人群，高细胞密度和严重核非典型性以及上皮样类型有关。有一种趋势是，在非整倍性GIST中更经常发现c-Kit突变。结论：DNA非整倍性和c-Kit突变可被认为是GIST的预后因素。

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