微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)(Microsatellite,MS)是(shi)(shi)指基(ji)(ji)因組(zu)中的(de)(de)(de)(de)短(duan)串聯重(zhong)復(fu)序列。與正常組(zu)織相(xiang)比(bi),腫瘤組(zu)織的(de)(de)(de)(de)微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)由(you)于重(zhong)復(fu)單位(wei)(wei)的(de)(de)(de)(de)插入(ru)或缺(que)失而導致(zhi)(zhi)微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)長度的(de)(de)(de)(de)改(gai)變,就(jiu)叫做(zuo)微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)不(bu)(bu)穩定(ding)(ding)(ding)性(xing)(xing)(Microsatellite Instability,MSI)。大量研(yan)究(jiu)表明(ming),MSI是(shi)(shi)由(you)于錯配修復(fu)(MMR)基(ji)(ji)因發(fa)生缺(que)陷引起(qi)的(de)(de)(de)(de),與腫瘤的(de)(de)(de)(de)發(fa)生密(mi)切相(xiang)關。約15-20%的(de)(de)(de)(de)結(jie)(jie)直(zhi)(zhi)腸(chang)癌(CRC)主要是(shi)(shi)由(you)MSI引起(qi)。 Lynch綜(zong)合(he)征(zheng)(zheng),又稱遺傳性(xing)(xing)非息肉病性(xing)(xing)結(jie)(jie)直(zhi)(zhi)腸(chang)癌(HNPCC),是(shi)(shi)由(you)MMR基(ji)(ji)因胚(pei)系突變所致(zhi)(zhi)的(de)(de)(de)(de)顯性(xing)(xing)遺傳病。研(yan)究(jiu)表明(ming),90%以上(shang)(shang)的(de)(de)(de)(de)Lynch綜(zong)合(he)征(zheng)(zheng)具(ju)有MSI特征(zheng)(zheng),而在散發(fa)性(xing)(xing)結(jie)(jie)直(zhi)(zhi)腸(chang)癌中MSI發(fa)生率約15%。NCI建議通過(guo)檢測基(ji)(ji)因組(zu)上(shang)(shang)的(de)(de)(de)(de)5個(ge)(ge)單核(he)苷酸重(zhong)復(fu)的(de)(de)(de)(de)微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)位(wei)(wei)點(dian)(NR-21,NR-24,BAT-25,BAT-26,MONO-27),來判(pan)斷微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)不(bu)(bu)穩定(ding)(ding)(ding)性(xing)(xing)程(cheng)度。與正常組(zu)織相(xiang)比(bi),5個(ge)(ge)微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)位(wei)(wei)點(dian)中2個(ge)(ge)或2個(ge)(ge)以上(shang)(shang)不(bu)(bu)穩定(ding)(ding)(ding)為(wei)高度微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)不(bu)(bu)穩定(ding)(ding)(ding)(MSI-H),1個(ge)(ge)位(wei)(wei)點(dian)不(bu)(bu)穩定(ding)(ding)(ding)為(wei)低度微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)不(bu)(bu)穩定(ding)(ding)(ding)(MSI-L),5個(ge)(ge)位(wei)(wei)點(dian)均(jun)穩定(ding)(ding)(ding)則為(wei)微(wei)(wei)(wei)(wei)衛(wei)(wei)星(xing)穩定(ding)(ding)(ding)(MSS)。研(yan)究(jiu)表明(ming),Ⅱ期MSI-H結(jie)(jie)直(zhi)(zhi)腸(chang)癌患(huan)者可(ke)能預(yu)后(hou)良(liang)好(hao)且無法從5-FU的(de)(de)(de)(de)輔助化療中受益(yi)。臨床(chuang)上(shang)(shang)已將MSI作為(wei)結(jie)(jie)直(zhi)(zhi)腸(chang)癌預(yu)后(hou)和制定(ding)(ding)(ding)輔助治療方(fang)案的(de)(de)(de)(de)重(zhong)要分子標志物,并應用于協助Lynch綜(zong)合(he)征(zheng)(zheng)篩查。