[1]李敬楠,白春英,房 芹.赤峰地区结直肠癌相关KRAS和PIK3CA基因多态性及临床意义[J].陕西医学杂志,2022,51(9):1137-1141,1166.[doi:DOI:10.3969/j.issn.1000-7377.2022.09.022]
　LI Jingnan,BAI Chunying,FANG Qin.Polymorphisms of KRAS and PIK3CA genes related to colorectal cancer in Chifeng area and their clinical significance[J].,2022,51(9):1137-1141,1166.[doi:DOI:10.3969/j.issn.1000-7377.2022.09.022]
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赤峰地区结直肠癌相关KRAS和PIK3CA基因多态性及临床意义
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《陕西医学杂志》[ISSN:1000-7377/CN:61-1281/TN]

卷:
51
期数:
2022年9期
页码:
1137-1141,1166
栏目:
临床检验
出版日期:
2022-09-05

文章信息/Info

Title:
Polymorphisms of KRAS and PIK3CA genes related to colorectal cancer in Chifeng area and their clinical significance
作者:
李敬楠1; 2; 白春英1; 3; 房 芹4
(1.锦州医科大学,辽宁 锦州 121001; 2.赤峰学院附属医院普通外科,内蒙古 赤峰 024000; 3.赤峰学院内蒙古人类遗传病研究重点实验室,内蒙古 赤峰 024000; 4.赤峰学院附属医院肿瘤内科,内蒙古 赤峰 024000)
Author(s):
LI Jingnan; BAI Chunying; FANG Qin
(Jinzhou Medical University,Jinzhou 121001,China)
关键词:
结直肠癌;  KRAS基因;  PIK3CA基因;  临床病理特征;  血常规;  肿瘤标志物
Keywords:
Colorectal cancer;  KRAS gene;  PIK3CA gene;  Clinicopathological feature;  Blood routine;  Tumor marker
分类号:
R 735.37
DOI:
DOI:10.3969/j.issn.1000-7377.2022.09.022
文献标志码:
A
摘要:
目的:分析赤峰地区结直肠癌(CRC)相关KRAS和PIK3CA基因多态性及临床意义。方法:以赤峰地区CRC患者107例为研究对象,并选取同期体检健康者376例为对照组。采用聚合酶链式反应(PCR)扩增-直接测序法检测KRAS、PIK3CA基因突变情况,并分析其与CRC患者临床病理特征、血常规及肿瘤标志物的关系。结果:107例CRC患者中,KRAS基因突变率为54.2%,PIK3CA基因突变率为24.3%,KRAS和PIK3CA基因同时突变率为16.8%。KRAS和PIK3CA基因突变与性别、年龄、肿瘤部位、病理类型、分化程度、TNM分期及远处器官转移无关(均P>0.05)。KRAS突变组和KRAS野生组红细胞(RBC)、血小板体积分布宽度(PDW)、中性粒细胞百分比(NEU%)、平均红细胞体积(MCV)、平均血红蛋白量(MCH)、淋巴细胞百分比(LYM%)、血红蛋白(Hb)、血细胞比容(HCT)、嗜碱性粒细胞百分比(BAS%)低于对照组(均P<0.05)。KRAS突变组白细胞(WBC)和血小板(PLT)高于对照组,平均血红蛋白浓度(MCHC)低于对照组(均P<0.05)。PIK3CA突变组和PIK3CA野生组RBC、MCV、MCH、LYM%、Hb低于对照组,NEU%、HCT高于对照组(均P<0.05)。PIK3CA突变组MCHC、Hb低于PIK3CA野生组(P<0.05)。PIK3CA突变组血小板比容(PCT)高于对照组,MCHC低于对照组(均P<0.05)。PIK3CA野生组PDW、BAS%低于对照组(P<0.05)。KRAS突变组血清癌胚抗原(CEA)、糖类抗原72-4(CA724)、糖类抗原 19-9(CA199)水平高于对照组,且CA199高于KRAS野生组(均P<0.05)。PIK3CA突变组和PIK3CA野生组血清CEA高于对照组(均P<0.05)。PIK3CA野生组血清CEA、CA724、CA199水平高于对照组,甲胎蛋白(AFP)低于对照组(均P<0.05)。结论:赤峰地区CRC患者KRAS、PIK3CA基因突变率较高,与临床病理特征无关,与RBC、PDW、NEU%、MCV、MCH、LYM%、Hb、HCT、BAS%及血清CA199、CEA水平有关,可作为CRC的筛查指标,且联合检测KRAS和PIK3CA基因对指导临床制定治疗方案具有重要意义。
Abstract:
Objective:To analyze the polymorphisms of KRAS and PIK3CA genes related to colorectal cancer(CRC)in Chifeng area and their clinical significance.Methods:A total of 107 CRC patients in Chifeng area were selected as the research object,and 376 healthy subjects during the same period were selected as the control group.Polymerase chain reaction(PCR)amplification-direct sequencing method was used to detect KRAS and PIK3CA genes mutation status,and their relationship with clinicopathological features,blood routine and tumor markers was analyzed.Results:The KRAS gene mutation rate,PIK3CA gene mutation rate,and simultaneous mutation rate of KRAS and PIK3CA genes were 54.2%,24.3% and 16.8%,respectively.KRAS and PIK3CA genes mutations were not related to gender,age,tumor location,pathological type,differentiation degree,TNM stage or distant organ metastasis(all P>0.05).Red blood cell(RBC),platelet distribution width(PDW),percentage of neutrophil(NEU%),mean corpuscular volume(MCV),mean corpuscular hemoglobin(MCH),percentage of lymphocyte(LYM%),hemoglobin(Hb),hematocrit(HCT)and percentage of basophil(BAS%)in the KRAS mutant group and the KRAS wild-type group were lower than those in the control group(all P<0.05).White blood cell(WBC)and platelet(PLT)in the KRAS mutant group were higher than those in the control group,and mean corpuscular hemoglobin concentration(MCHC)was lower than that in the control group(all P<0.05).RBC,MCV,MCH,LYM% and Hb in the PIK3CA mutant group and the PIK3CA wild-type group were lower than those in the control group,while NEU% and HCT were higher than those in the control group(all P<0.05).MCHC and Hb in the PIK3CA mutant group were lower than those in the PIK3CA wild-type group(all P<0.05).PCT in the PIK3CA mutant group was higher than that in the control group,and MCHC was lower than that in the control group(all P<0.05).PDW and BAS in the PIK3CA wild-type group were lower than those in the control group(all P<0.05).The levels of serum carcinoembryonic antigen(CEA),carbohydrate antigen 72-4(CA724)and carbohydrate antigen 19-9(CA199)in the KRAS mutant group were higher than those in the control group,and the level of CA199 was higher than that in the KRAS wild-type group(all P<0.05).CEA levels in the PIK3CA mutant group and the PIK3CA wild-type group were higher than that in the control group(all P<0.05).The levels of serum CEA,CA724 and CA199 in the PIK3CA wild-type group were higher than those in the control group,and the level of alpha fetoprotein(AFP)was lower than that in the control group(all P<0.05).Conclusion:The KRAS and PIK3CA gene mutation rate is high in CRC patients in Chifeng area,which is not related to clinicopathological features but related to RBC,PDW,NEU%,MCV,MCH,LYM%,Hb,HCT,BAS%,and serum CA199 and CEA levels.The results indicate that the two can be used as screening indicators of CRC,and combined detection of KRAS and PIK3CA gene is of great significance for the development of clinical treatment plan.

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备注/Memo

备注/Memo:
基金项目:国家自然科学基金资助项目(81860496); 内蒙古人类遗传病研究重点实验室开放课题(YC202103)
更新日期/Last Update: 2022-09-05