临床与实验病理学杂志2024,Vol.40Issue(12) :1276-1281.DOI:10.13315/j.cnki.cjcep.2024.12.007

结直肠微乳头状癌错配修复缺陷及KRAS、NRAS、PIK3CA、BRAF基因突变的研究

Mismatch repair deficiency and mutations of KRAS,NRAS,PIK3CA and BRAF genes in colorectal micropapillary carcinoma

吴晨鹏 李军 刘颖 李雪梅 张志勇 王磊
临床与实验病理学杂志2024,Vol.40Issue(12) :1276-1281.DOI:10.13315/j.cnki.cjcep.2024.12.007

结直肠微乳头状癌错配修复缺陷及KRAS、NRAS、PIK3CA、BRAF基因突变的研究

Mismatch repair deficiency and mutations of KRAS,NRAS,PIK3CA and BRAF genes in colorectal micropapillary carcinoma

吴晨鹏 1李军 2刘颖 2李雪梅 1张志勇 1王磊3
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作者信息

  • 1. 唐山市工人医院病理科,唐山 063000
  • 2. 唐山市工人医院检验科,唐山 063000
  • 3. 唐山市人民医院病理科,唐山 063001
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摘要

目的 探讨结直肠微乳头状癌(micropapillary carcinoma,MPC)的临床病理及分子特征,为结直肠MPC的诊断及个体化治疗提供依据.方法 收集461例结直肠癌患者的临床病理及分子检测资料,其中结直肠MPC 56例,结直肠腺癌非特殊型(not otherwise specified,NOS)405例,应用免疫组化法检测4项错配修复蛋白MLH1、PMS2、MSH2、MSH6及p53蛋白的表达,采用ARMS-PCR法检测KRAS、NRAS、PIK3CA及BRAF基因热点突变情况,分析结直肠MPC与腺癌NOS临床病理及分子特征的差异.结果 结直肠MPC脉管侵犯率及淋巴结转移率显著高于腺癌NOS(42.9%vs 23.0%,P=0.001;67.9%vs 46.2%,P=0.002);结直肠MPC错配修复缺陷发生率显著低于腺癌NOS(3.6%vs 13.8%,P=0.030);结直肠MPC的KRAS基因外显子2、3、4区域热点突变率显著高于腺癌NOS(58.9%vs 42.2%,P=0.018),尤其是KRAS G13D位点突变率(17.9%vs 8.1%,P=0.019).结直肠MPC成分所占比例与临床病理及分子特征无关.结直肠MPC与腺癌NOS伴高级别肿瘤出芽的临床病理及分子特征无显著差异.结论 结直肠MPC的临床病理及分子特征与腺癌NOS有差异,准确诊断该亚型可为治疗方案的制定及预后评估提供一定帮助.

Abstract

Purpose To investigate the clinicopathological and molecular features of colorectal micropapillary carcinoma(MPC),and to provide evidence for the diagnosis and individu-al treatment of colorectal MPC.Methods The clinicopathologi-cal and molecular data of 461 patients with colorectal cancer were collected retrospectively,including 56 cases of colorectal MPC and 405 cases of colorectal adenocarcinoma not otherwise specified(NOS).The expression of 4 mismatch repair proteins(MLH1,PMS2,MSH2,MSH6)and p53 protein was detected by immunohistochemistry.The hot spot mutations of KRAS,NRAS,PIK3CA and BRAF genes were detected by ARMS-PCR,to analyze the difference of clinicopathological and molec-ular features between colorectal MPC and adenocarcinoma NOS.Results The vessel invasion rate and lymph node metastasis rate of colorectal MPC were significantly higher than those of ad-enocarcinoma NOS(42.9%vs 23.0%,P=0.001;67.9%vs 46.2%,P=0.002).The incidence of mismatch repair defi-ciency in colorectal MPC was significantly lower than that in ade-nocarcinoma NOS(3.6%vs 13.8%,P=0.030).The hot spot mutation rate in exon 2,3 and 4 of KRAS gene in colorectal MPC was significantly higher than that in adenocarcinoma NOS(58.9%vs 42.2%,P=0.018),especially in KRAS G13D(17.9%vs 8.1%,P=0.019).The proportion of colorectal MPC components was not associated with clinicopathological and molecular features.There were no significant differences in clin-icopathological and molecular features between colorectal MPC and adenocarcinoma NOS with high-grade tumor budding.Con-clusion The clinicopathologic and molecular features of color-ectal MPC are different from those of adenocarcinoma NOS,and the diagnosis of this subtype may provide help for the formulation of treatment plan and the evaluation of prognosis.

关键词

结直肠微乳头状癌/错配修复缺陷/KRAS/NRAS/PIK3CA/BRAF

Key words

colorectal micropapillary carcinoma/mismatch re-pair deficiency/KRAS/NRAS/PIK3CA/BRAF

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出版年

2024
临床与实验病理学杂志
安徽医科大学,中华医学会安徽分会

临床与实验病理学杂志

CSTPCD北大核心
影响因子:0.776
ISSN:1001-7399
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