论著基于脑脊液和血液样本的乳腺癌脑转移相关耐药基因突变的鉴定及功能分析∗杨梅谭越∗∗李纲李雪莲(上海市闵行区肿瘤医院肿瘤内科,上海２００２４０)[摘要]【目的】探讨乳腺癌脑转移患者脑脊液和血液来源的基因突变情况,筛查耐药基因及分析耐药机制.【方法】本院收治的７０例乳腺癌脑转移患者为研究对象,采用二代基因测序技术检测患者脑脊液和血液样本中的循环肿瘤DNA(ctDNA)了解基因突变情况,并进行耐药性筛查及分析其与突变基因的关联性.【结果】７０例患者中主要检测出TP５３、HER２、PIK３CA、BRCA１和BRCA２五个主要突变基因,脑脊液来源的样品中基因突变的检出率为１００％(７０/７０),高于血液来源样品的６５．７１％(４６/７０)(P＜０．０５).以不带有HER２和PIK３CA突变的２１例样品为对照组,HER２突变的患者对曲妥珠单抗的耐药性比例高于对照组(P＜０．０５);PIK３CA突变的患者对曲妥珠单抗、阿替利珠单抗、紫杉醇和阿霉素４种药的耐药性比例与对照组比较,差异均无统计学意义(P＞０．０５).同时,HER２突变患者对阿替利珠单抗、紫杉醇和阿霉素的耐药性比例与对照组比较,差异均无统计学意义(P＞０．０５).【结论】乳腺癌脑转移患者的脑脊液比血液更能准确反映脑转移情况,若检出HER２突变,则提示可能有对应的耐药基因存在,这对用药指导、耐药监测等意义重大.[关键词]乳腺肿瘤/遗传学;肿瘤转移;基因;药物耐受性IdentificationandFunctionalVerificationofDrugＧResistantGeneMutationsAssociatedwithBreastCancerBrainMetastasisBasedonCerebrospinalFluidandBloodSamplesYANGMei,TANYue,LIGang,etal(DepartmentofOncology,MinhangDistrictCancerHospital,Shanghai２００２４０)[Abstract]【Objective】Thisstudyaimstoinvestigatethegenemutationprofileincerebrospinalfluid(CSF)/bloodＧderivedsamplesfrompatientswithbrainmetastasesofbreastcancerforscreeningdrugＧresistantgenestoverifytheirresistancemechanisms．【Methods】Atotalof７０patientswithbrainmetastasesfrombreastcancertreaＧtedinourhospitalwereselectedforthestudy．SecondＧgenerationsequencingtechnologywasusedtodetectcircuＧlatingtumorDNA(ctDNA)inCSFandbloodsamplestounderstandthegenemutationstatus,andtoscreendrugresistanceandanalyzetheassociationwithmutantgenes．【Results】Themaingenemutationsdetectedinthe７０paＧtientsincludedTP...
