摘要
目的探究乳腺癌患者癌组织中KRAS、PIK3CA基因突变与临床病理特征及预后的关系。方法选择2015年1月至2021年6月于西藏自治区人民政府驻成都办事处医院乳腺科进行手术治疗的256例乳腺癌患者为研究对象。对乳腺癌组织进行基因组DNA的提取,分别对PIK3CA基因和KRAS基因突变热点区域进行PCR扩增,并对扩增产物进行测序分析。探讨PIK3CA基因和KRAS基因突变与乳腺癌临床病理特征的关系。对患者随访10个月,依据复发情况分为复发组(n=47)和未复发组(n=209),探究患者术后复发的影响因素,并构建预测模型。采用Kaplan Meier生存曲线分析PIK3CA基因和KRAS基因不同突变情况患者的复发率。结果256例乳腺癌组织标本中共检测出77例PIK3CA基因突变和58例KRAS基因突变,突变率分别为30.08%和22.66%。PIK3CA基因突变与ER、PR以及HER-2的阳性表达率、临床分期、分化程度以及淋巴结转移有关(P<0.05);KRAS基因突变与ECOG评分有关(P<0.05)。与未复发组相比,复发组患者ECOG评分较高、肿瘤直径较大、ER和PR阳性表达率较低、HER-2阳性表达率较高、临床分期趋向Ⅲ~Ⅳ期、分化程度趋向低分化、更易发生淋巴结转移、PIK3CA和KRAS基因突变率较高(P<0.05)。多因素Logistic回归分析结果显示,肿瘤直径≥5 cm、肿瘤低分化、淋巴结转移、PIK3CA基因突变是乳腺癌患者术后复发的独立危险因素(P<0.05)。PIK3CA基因突变型和野生型的乳腺癌患者10个月的复发率分别为37.66%和10.06%,差异有统计学意义(P<0.05)。KRAS基因突变型和野生型的乳腺癌患者10个月的复发率分别为20.69%和17.68%,差异无统计学意义(P<0.05)。结论PIK3CA基因与乳腺癌的临床病理特征密切相关,是乳腺患者术后复发的独立危险因素,其突变可能提示患者预后不良。KRAS基因与乳腺癌患者ECOG评分相关,与患者预后无明显关系。
Objective Objective to explore the relationship between KRAS and PIK3CA gene mutation and clinicopathological features and prognosis in breast cancer patients.Methods Methods 256 patients with breast cancer who underwent operation from January 2015 to June 2021 in the breast Department of the Tibet Autonomous Region People’s Government Office in Chengdu were selected as the research subjects.Genomic DNA was extracted from breast cancer tissues,and PIK3CA gene and KRAS gene mutation hotspots were amplified by PCR and sequenced.Objective to investigate the relationship between PIK3CA gene and KRAS gene mutation and clinicopathological characteristics of breast cancer.The patients were followed up for 10 months and divided into recurrence group(n=47)and non recurrence group(n=209)according to the recurrence.The influencing factors of postoperative recurrence were explored and the prediction model was constructed.The recurrence rates of patients with different states of PIK3CA gene and KRAS gene were analyzed by Kaplan Meier survival curve.Results In 256 breast cancer specimens,77 PIK3CA mutations and 58 KRAS mutations were detected,with mutation rates of 30.08%and 22.66%respectively.PIK3CA gene mutation was related to the positive expression rate of Er,PR and HER-2,clinical stage,degree of differentiation and lymph node metastasis(P<0.05).KRAS gene mutation was related to ECoG score(P<0.05).The positive rates of recurrence(P<0.05),recurrence(P<0.05),differentiation(P<0.05),and recurrence(P<0.05),recurrence(P<0.05),and metastasis(P<0.05)were higher in patients with recurrence(P<0.05).Multivariate Logistic regression analysis showed that tumor diameter of more than 5 cm,poorly differentiated tumor,lymph node metastasis and PIK3CA gene mutation were independent risk factors for postoperative recurrence of breast cancer(P<0.05).The recurrence rate of PIK3CA gene and wild type breast cancer patients was 37.66%and 10.06%at 10 months,respectively,and the difference was statistically significant(P<0.05).The recurrence rate of KRAS gene and wild type breast cancer patients was 20.69%and 17.68%at 10 months,respectively,and the difference was not statistically significant(P>0.05).Conclusion PIK3CA gene is closely related to the clinicopathological characteristics of breast cancer,and is an independent risk factor for postoperative recurrence of breast cancer.KRAS gene is associated with ECOG score in breast cancer patients,and has no significant relationship with prognosis.
作者
刘林
陈祯勇
LIU Lin;CHEN Zhenyong(Department of General Surgery,Chengdu Office Hospital of The People’s Government of Tibet Autonomous Region,Chengdu,Sichuan 610041,China)
出处
《中国优生与遗传杂志》
2022年第10期1767-1774,共8页
Chinese Journal of Birth Health & Heredity
关键词
乳腺癌
基因突变
临床病理特征
预后
预测模型
mammary cancer
gene mutation
clinicopathological features
prognosis
prediction model
