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乳腺癌患者一定要做基因检测吗?
- 2020-3-2

zhenduiruxianaidejiyinjianceyouhaojikuan,henduohuanzhesihubingbuqingchutamendezuoyong,zhishizaiyishengdejianyixiajiuxilihutudizuolejiance。jiyinjiancedaodiyoushenmezuoyong?meigehuanzhedougaizuojiyinjiancema?womenyiqilejieyixia。

mubiao:bimianguozhiliaojiyucefufa

womenzhidao,duiyuzaoqiruxianaihuanzheeryan,chulejinxingjubushoushuqiechuyiwai,haixuyaojinxingyewolinbajiefenqiyijiduizhongliuzuzhidejisushouti(er、hr)、shengzhangyinzishouti(her2)jinxingpinggu,cainengjinyibuzhidingyaowuquanshenzhiliaodejutifangan。

这一治疗思路已经被NCCN(美国国立综合癌症网络)接纳,成为早期乳腺癌患者诊疗的基本流程。这是因为激素受体的情况决定了内分泌治疗是否有效,而生长因子受体HER2则决定了可否使用相应的靶向药——qutuozhudankang,houzhedelinchuangyouxiaolvshixianzhugaoyuchuantonghualiaode。

mubiao:huodegengduozhiliaoxuanze

随着二代测序(NGS)的发展,基因检测技术不仅可为早期乳腺癌患者的“精准”诊疗带来福音,也为进展期(远处转移或复发)的患者带来希望。

muqian,zhuyaoderuxianaixiangguanjiyin,zhuyaodejiuzhiyouer、her2、pik3caheakt1。muqianjuyoulinchuangyingyongqianjingdebaxiangzhiliaozhuyaoyeshizhenduitamende。

1 pik3cayizhiji

qizhongdedianxinglizi,moguoyupik3cayizhijialpelisibkeyufulvestrant(fuweisiqun)delianheshiyong。yanjiubiaoming,yijingliguodaliangzhiliaohoufashengzhuanyidejuejinghouruxianai,gailianheyongyaorengjuyouzaoqiliaoxiao。

而使用这项治疗的必要条件则是:肿瘤细胞ER阳性、PIK3CA基因改变必须存在。

2 PARP抑制剂

chulezhongliuxibaoyichuanbianyixiangguandebaxiangzhiliaowai,yanjiurenyuanyuelaiyueguanzhudnasunshangxiufujiyinxiangguandepeixijiyinquexian,yejiushiyinfazhongliufashengdeneixiexiantianxingdejiyinquexian,ru——brca1/2。

yinci,nccnzaizhidingfufahuozhuanyixingruxianaidehualiaofanganshi,duibrca1/2zhongxibianyidehuanzhe,tebiejienaleparpyizhiji——aolapali,zuoweiher-2yinxingzhongliuhuanzhedeyixianzhiliao。

brca1/2jiyinshiruxianaidelianggezhuyaoyiganjiyin,chengchangransetixianxingyichuan,erbrcajiyintubiandaozhidesanyinxingruxianaiyuezhansanyinxingruxianaide20%。

xiangguanyanjiujieguoxianshi,brca1/2jiyintubianderuxianaixibaoduishunbo、kabo、siliemeisudengyaowugengjiamingan。liru2014nianmeiguosheng·andongniaoruxianaihuiyishoucibaodao,2018niangengxinjieguodetntyanjiujieguoxianshi,brca1/2peixitubianhuanzhezhongjieshoukabozhiliaozudekeguanhuanjielvweiduoxitasaizhiliaozude2bei,wujinzhanshengcunqiyanzhang2.2geyue。

中国乳腺癌患者BRCA1/2基因检测与临床应用专家共识(2018版)建议,在晚期或者复发转移行乳腺癌患者中,若存在BRCA1/2胚系突变,制定化疗方案时可以优先考虑铂类药物而非紫杉醇类药物。

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