摘要: |
[摘要] 目的 探讨胃肠间质瘤c-kit基因表达和外显子11突变与临床病理的关系。 方法 选取病理资料完整、诊断明确的胃肠间质瘤(gastrointestinal stromal tumor, GIST)标本60例(其中15例标本同时收集新鲜标本组织),用免疫组织化学(EnVision二步法)及Western-blot检测KIT蛋白表达;半定量RT-PCR方法检测c-kit基因的表达;通过聚合酶链式反应-单链构象多态(PCR-SSCP)方法筛选c-kit基因外显子11突变病例。 结果 免疫组织化学检测结果:与高分化GIST相比,KIT蛋白在低分化GIST中表达强度较高(P<0.05)。Western-blot结果发现,与低侵袭危险度GIST比,KIT成熟蛋白在中高侵袭危险程度GIST中表达量较高(P<0.05)。c-kit基因外显子11突变率为52%(31/60),发生在女性、肿瘤最大径>5 cm、核分裂数>5/50 HPF及中高度侵袭危险性的GIST外显子11突变率较高(P<0.05)。在外显子11突变的GIST中成熟型KIT蛋白表达量较高(P<0.05)。 结论 KIT成熟蛋白可能在GIST发生、发展中起重要作用,并且与GIST高度侵袭危险性的生物学行为相关;c-kit基因外显子11突变可能是GIST恶性生物学行为的指标。 |
关键词: 胃肠间质瘤 c-kit基因表达 外显子11突变;临床病理特点 |
DOI:10.11724/jdmu.2015.05.06 |
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Relationship of c-kit expression and mutation in the exon 11 to the clinicopathological features in gastrointestinal stromal tumor |
JI Rong-wei 1, LI Hui 2, WANG Li-fen 3, TANG Ying 31,2,3
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1.Department of Pathology, Xi′an XD Group Hospital, Xi′an 710077, China;2.Nursing School of Sias International University, Zhengzhou University, Xinzheng 451150,China;3.Department of Pathology, the Second Affiliated Hospital of Dalian Medical University, Dalian 116027,China
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Abstract: |
[Abstract] Objective To study the relationship of c-kit gene’s expression and mutation in the exon 11 to clinicopathological features of gastrointestinal stromal tumor (GIST). Methods A total of 60 GIST specimens (including 15 fresh samples) were obtained from the Second Affiliated Hospital of Dalian Medical University. Immunohistochemistry, Western-blot and RT-PCR were used to analyze c-kit gene expression, and PCR-SSCP was used to detecte c-kit exon 11 mutation. Results KIT protein expression detected by immunohistochemistry was higher in poorly differentiated GIST (P<0.05). The expression of KIT mature protein detected by western-blot was higher in the high invasion risk GIST (P<0.05). The frequency of c-kit gene exon 11 mutation was 52 % (26/50), mainly in the cases of women more than 60 years old, maximum tumor diameter>5 cm, and the high invasion risk GIST (P<0.05).KIT mature protein expression is higher in GIST with exon 11 mutation (P<0.05). Conclusions KIT mature protein expression might play an important role in the development of GIST and might associate with a high invasion risk c-kit gene exon 11 mutation might be an indicator of malignant biologic behavior in GIST. |
Key words: [Key words] gastrointestinal stromal tumor expression of c-kit gene mutation of the exon 11 clinicopathological features |