首页|结直肠癌患者KDM6A蛋白表达与基因突变及错配修复的关系

结直肠癌患者KDM6A蛋白表达与基因突变及错配修复的关系

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目的 探讨结直肠癌(CRC)组织中KDM6A蛋白表达与KRAS/NRAS/BRAF/PIK3CA基因突变及DNA错配修复(MMR)的关系.方法 收集111例手术切除CRC患者的标本,通过免疫组织化学检测KDM6A蛋白及DNA错配修复相关蛋白(MLH1、MSH2、MSH6和PMS2)表达,通过扩增阻碍突变系统(ARMS)法检测KRAS/NRAS/BRAF/PIK3CA基因突变,通过统计学分析KDM6A蛋白表达与KRAS/NRAS/BRAF/PIK3CA基因突变、MMR及临床病理特征、预后关系,并通过TCGA数据库CRC数据对预后进行验证分析.结果 KDM6A表达率在基因突变CRC患者中显著升高,KDM6A表达患者多为错配修复完整(pMMR)(P<0.05).有脉管侵犯CRC患者的KDM6A表达率显著高于无脉管侵犯者(P<0.05). KDM6A阳性组和阴性组CRC患者总生存期(OS)差异无统计学意义(P=0.470).结论 CRC患者中KDM6A表达与KRAS/NRAS/BRAF/PIK3C基因突变有关,更常见于pMMR患者,更易发生于有脉管侵犯患者,但与患者预后无关.
Relationship between KDM6A protein expression and gene mutation and mismatch repair in patients with colorectal cancer
Objective To investigate the relationship between KDM6A protein expression and gene mutation and mismatch repair in patients with colorectal cancer(CRC).Methods The 111 patients with surgically resected CRC cases were collected.KDM6A protein and MMR proteins(MLH1,MSH2,MSH6,and PMS2)expression was determined by immunohistochemistry,and KRAS/NRAS/BRAF/PIK3CA gene mutations were identified by the amplification refractory mutation system(ARMS),and analyzed statistically for the relationship between KDM6A expression and gene mutation,MMR,the clinicopathological features,and prognosis,which was validated by CRC data from the TCGA database.Results KDM6A expression rate was significantly elevated in CRC patients with mutations.CRC patients with KDM6A expression were likely to develop proficient mismatch repair(pMMR).KDM6A expression was significantly higher in CRC patients with vascular invasion than in those without vascular invasion.No significant differences were identified in overall survival(OS)between the KDM6A-positive and KDM6A-negative groups in patients with CRC cancer.Conclusion KDM6A expression in CRC patients is associated with mutations in the KRAS/NRAS/BRAF/PIK3CA genes,more common in patients with pMMR,and more likely occurs in patients with vascular invasion,but not associated with the prognosis.

Colorectal cancerKDM6AGene mutationMismatch repairPrognosis

武景波、刘慧、李小静、刘秀萍

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复旦大学附属上海市第五人民医院病理科,上海 200240

结直肠癌 KDM6A 基因突变 错配修复 预后

上海市闵行区科委自然科学研究项目上海市闵行区高层次专科骨干医师培养计划

2022MHZ0432020MZYS10

2024

诊断病理学杂志
北京军区总医院

诊断病理学杂志

CSTPCD
影响因子:0.663
ISSN:1007-8096
年,卷(期):2024.31(3)
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