{"success":true,"data":{"id":177,"title":"\u6d45\u8c08MSI\u4e0eMMR|\u52a9\u529b\u89e3\u6790MSI\u4e0eMMR\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4","summary":"\u672c\u6587\u7cfb\u7edf\u9610\u8ff0\u4e86MSI\uff08\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\uff09\u548cMMR\uff08\u9519\u914d\u4fee\u590d\uff09\u5728\u764c\u75c7\u8bca\u7597\u4e2d\u7684\u4e34\u5e8a\u610f\u4e49\uff0c\u5305\u62ec\u7b5b\u67e5\u6797\u5947\u7efc\u5408\u5f81\u3001\u6307\u5bfc\u5206\u5b50\u5206\u578b\u3001\u8bc4\u4f30\u9884\u540e\u53ca\u9884\u6d4b\u514d\u75ab\u6cbb\u7597\u7597\u6548\u3002\u6587\u7ae0\u6bd4\u8f83\u4e86IHC\u3001PCR\u548cNGS\u4e09\u79cdMSI\u68c0\u6d4b\u65b9\u6cd5\u7684\u7279\u70b9\uff0c\u5206\u6790\u4e86MSI\u4e0eMMR\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u591a\u79cd\u539f\u56e0\uff0c\u5e76\u63d0\u51fa\u4e86\u8054\u5408\u68c0\u6d4b\u4ee5\u63d0\u9ad8\u4e34\u5e8a\u51b3\u7b56\u51c6\u786e\u6027\u7684\u5efa\u8bae\u3002","highlights":["MSI\u662f\u6cdb\u764c\u79cd\u91cd\u8981\u5206\u5b50\u6807\u5fd7\u7269\uff0c\u53ef\u7528\u4e8e\u6797\u5947\u7efc\u5408\u5f81\u7b5b\u67e5\u548c\u514d\u75ab\u7597\u6548\u9884\u6d4b","MSI\u68c0\u6d4b\u65b9\u6cd5\u5305\u62ecIHC\u3001PCR\u548cNGS\uff0c\u5404\u6709\u4f18\u7f3a\u70b9\u9700\u6839\u636e\u4e34\u5e8a\u9700\u6c42\u9009\u62e9","MSI\u4e0eMMR\u68c0\u6d4b\u7ed3\u679c\u5b58\u572810%\u4e0d\u4e00\u81f4\u7387\uff0c\u6e90\u4e8e\u6280\u672f\u65b9\u6cd5\u548c\u751f\u7269\u5b66\u673a\u5236\u5dee\u5f02","MSI\u72b6\u6001\u6307\u5bfc\u7ed3\u76f4\u80a0\u764c\u3001\u80c3\u764c\u3001\u5b50\u5bab\u5185\u819c\u764c\u7b49\u591a\u79cd\u764c\u75c7\u7684\u6cbb\u7597\u51b3\u7b56"],"faq":[{"question":"\u8fd9\u7bc7\u6587\u7ae0\u8ba8\u8bba\u4e86\u54ea\u4e9b\u4e3b\u9898\uff1f","answer":"MSI,MMR,\u6797\u5947\u7efc\u5408\u5f81,\u514d\u75ab\u68c0\u67e5\u70b9\u6291\u5236\u5242,\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a,\u9519\u914d\u4fee\u590d\u7f3a\u9677,\u80bf\u7624\u6807\u5fd7\u7269,\u7cbe\u51c6\u533b\u7597"},{"question":"\u6587\u7ae0\u6838\u5fc3\u89c2\u70b9\u662f\u4ec0\u4e48\uff1f","answer":"MSI\u5df2\u7ecf\u6210\u4e3a\u5927\u591a\u6570\u764c\u79cd\u7684\u70ed\u70b9\u5206\u5b50\u6807\u5fd7\u7269\u4e4b\u4e00\uff0c\u5b83\u5177\u6709\u7b5b\u67e5\u6797\u5947\u7efc\u5408\u5f81\u3001\u6307\u5bfc\u764c\u79cd\u5206\u5b50\u5206\u578b\u3001\u8bc4\u4f30\u9884\u540e\u53ca\u8f85\u52a9\u6cbb\u7597\u3001\u9884\u6d4b\u514d\u75ab\u7597\u6548\u7b49\u591a\u91cd\u4e34\u5e8a\u610f\u4e49\u3002MSI\u72b6\u6001\u4e3b\u8981\u6839\u636eMMR\u86cb\u767d\u8868\u8fbe\u60c5\u51b5\u548c\uff08\u6216\uff09MSI\u68c0\u6d4b\u7ed3\u679c\u6765\u5224\u5b9a\uff0c\u5728\u5b9e\u9645\u5de5\u4f5c\u4e2d\uff0c\u4e24\u8005\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u51e0\u7387\u8fbe\u5230\u4e8610%\uff0c\u751a\u81f3\u66f4\u9ad8\u3002\u672c\u6587\u4e3a\u5927\u5bb6\u7b80\u8981\u5730\u4ecb\u7ecd\u4e86MSI\u4e0eMMR\uff0c\u68b3\u7406\u4e86\u4e24\u8005\u7684\u68c0\u6d4b\u65b9\u6cd5\u53ca\u5404\u68c0\u6d4b\u65b9\u6cd5\u7684\u7279\u70b9\uff0c\u540c\u65f6\u5217\u4e3e\u4e86MSI\u4e0eMMR\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u53ef\u80fd\u539f\u56e0\uff0c\u8fdb\u4e00\u6b65\u63a8\u8fdb"}],"keywords":"MSI,MMR,\u6797\u5947\u7efc\u5408\u5f81,\u514d\u75ab\u68c0\u67e5\u70b9\u6291\u5236\u5242,\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a,\u9519\u914d\u4fee\u590d\u7f3a\u9677,\u80bf\u7624\u6807\u5fd7\u7269,\u7cbe\u51c6\u533b\u7597","content":"MSI\u5df2\u7ecf\u6210\u4e3a\u5927\u591a\u6570\u764c\u79cd\u7684\u70ed\u70b9\u5206\u5b50\u6807\u5fd7\u7269\u4e4b\u4e00\uff0c\u5b83\u5177\u6709\u7b5b\u67e5\u6797\u5947\u7efc\u5408\u5f81\u3001\u6307\u5bfc\u764c\u79cd\u5206\u5b50\u5206\u578b\u3001\u8bc4\u4f30\u9884\u540e\u53ca\u8f85\u52a9\u6cbb\u7597\u3001\u9884\u6d4b\u514d\u75ab\u7597\u6548\u7b49\u591a\u91cd\u4e34\u5e8a\u610f\u4e49\u3002MSI\u72b6\u6001\u4e3b\u8981\u6839\u636eMMR\u86cb\u767d\u8868\u8fbe\u60c5\u51b5\u548c\uff08\u6216\uff09MSI\u68c0\u6d4b\u7ed3\u679c\u6765\u5224\u5b9a\uff0c\u5728\u5b9e\u9645\u5de5\u4f5c\u4e2d\uff0c\u4e24\u8005\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u51e0\u7387\u8fbe\u5230\u4e8610%\uff0c\u751a\u81f3\u66f4\u9ad8\u3002\u672c\u6587\u4e3a\u5927\u5bb6\u7b80\u8981\u5730\u4ecb\u7ecd\u4e86MSI\u4e0eMMR\uff0c\u68b3\u7406\u4e86\u4e24\u8005\u7684\u68c0\u6d4b\u65b9\u6cd5\u53ca\u5404\u68c0\u6d4b\u65b9\u6cd5\u7684\u7279\u70b9\uff0c\u540c\u65f6\u5217\u4e3e\u4e86MSI\u4e0eMMR\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u53ef\u80fd\u539f\u56e0\uff0c\u8fdb\u4e00\u6b65\u63a8\u8fdb\u6cdb\u764c\u79cd\u4eceMSI\u4e34\u5e8a\u8bca\u65ad\u4e2d\u83b7\u76ca\u7684\u53ef\u80fd\u6027\u3002 01 DNA\u9519\u914d\u4fee\u590d\uff08MMR\uff09 1.1MMR\u7684\u5b9a\u4e49DNA\u5728\u590d\u5236\u8fc7\u7a0b\u4e2d\u53ef\u80fd\u6574\u5408\u9519\u8bef\u7684\u6838\u82f7\u9178\uff0cDNA\u9519\u914d\u4fee\u590d\uff08Mismatch repair\uff0cMMR\uff09\u7cfb\u7edf\u7684\u529f\u80fd\u662f\u8bc6\u522b\u5e76\u7ea0\u6b63DNA\u590d\u5236\u8fc7\u7a0b\u51fa\u73b0\u7684\u9519\u8bef\uff0c\u786e\u4fdd\u590d\u5236\u8fc7\u7a0b\u7684\u201c\u4fdd\u771f\u6027\u201d\u3002MMR\u6839\u636e\u5176\u57fa\u56e0\u5bb6\u65cf\u86cb\u767d\uff08MLH1\u3001MSH2\u3001MSH6\u3001PMS2\uff09\u8868\u8fbe\u6a21\u5f0f\u88ab\u5206\u4e3a2\u7c7b\uff1a\u9519\u914d\u4fee\u590d\u7f3a\u9677\uff08dMMR\uff09\u548c\u9519\u914d\u4fee\u590d\u529f\u80fd\u5b8c\u6574\uff08pMMR\uff09\u3002\u5176\u4e2d\uff0cdMMR\u662f\u9020\u6210\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\uff08Microsatellite instability\uff0cMSI\uff09\u7684\u4e3b\u8981\u539f\u56e0\u3002 1.2MMR\u7684\u4f5c\u7528\u65b9\u5f0f\u9519\u914d\u4fee\u590d\u86cb\u767d\u5305\u62ecMutS\u548cMutL\u4e24\u5927\u5bb6\u65cf\uff0c\u524d\u8005\u5305\u62ecMSH2\u3001MSH3\u548cMSH6\u7b49\uff0c\u540e\u8005\u5305\u62ecMLH1\u3001MLH3\u3001PMS1\u548cPMS2\u3002MSH2\u548cMLH1\u5206\u522b\u4e0e\u5176\u540c\u6e90\u9519\u914d\u4fee\u590d\u86cb\u767d\u7ec4\u6210\u5f02\u6e90\u4e8c\u805a\u4f53\u800c\u53d1\u6325\u4f5c\u7528\u3002MSH2\u5206\u522b\u4e0eMSH6\u3001MSH3\u7ec4\u6210\u590d\u5408\u4f53MutS\u03b1\u3001MutS\u03b2\u3002MLH1\u5219\u5206\u522b\u4e0ePMS2\u3001PMS1\u6216MLH3\u5f62\u6210\u590d\u5408\u4f53MutL\u03b1\u3001MutL\u03b2\u6216MutL\u03b3\u3002MutS\u03b1\u6216MutS\u03b2\u8bc6\u522b\u4e86\u9519\u914d\u78b1\u57fa\u540e\uff0c\u4e0eDNA\u78b1\u57fa\u7ed3\u5408\uff0c\u518d\u4e0eMutL\u7ed3\u5408\uff0c\u6fc0\u6d3bATP\u9176\uff0c\u6c34\u89e3\u9519\u914d\u7684\u78b1\u57fa\uff0c\u540c\u65f6\u6fc0\u6d3b\u6838\u9178\u5185\u5207\u91761\uff0c\u5207\u9664\u5e76\u4fee\u590d\u9519\u914d\u7684\u78b1\u57fa\u3002DNA\u9519\u914d\u4fee\u590d\u529f\u80fd\u793a\u610f\u56fe 1.3dMMR\u7684\u5f62\u6210\u539f\u56e0 MMR\u57fa\u56e0\uff08MLH1\u3001MSH2\u3001MSH6\u3001PMS2\uff09\u53d1\u751f\u80da\u7cfb\u6216\u4f53\u7cfb\u81f4\u75c5\u7a81\u53d8\uff1b EPCAM\u57fa\u56e0\u7f3a\u5931\u5bfc\u81f4MSH2\u542f\u52a8\u5b50\u9ad8\u5ea6\u7532\u57fa\u5316\u5f15\u8d77\u7684MSH2\u57fa\u56e0\u8868\u8fbe\u6c89\u9ed8\uff1b MLH1\u542f\u52a8\u5b50\u533a\u9ad8\u7532\u57fa\u5316\u6216MLH1\u7ec4\u6210\u6027\u8868\u7a81\u53d8\u5f15\u8d77MLH1\u8868\u8fbe\u7f3a\u5931\uff1b \u6ce8\uff1a\u8868\u7a81\u53d8\uff08Epimutation\uff09\u662f\u6307\u57fa\u56e0\u8868\u8fbe\u8c03\u63a7\u7684\u8868\u89c2\u9057\u4f20\u5b66\u5f02\u5e38\uff0c\u5bfc\u81f4\u6b63\u5e38\u6d3b\u6027\u57fa\u56e0\u7684\u8f6c\u5f55\u6291\u5236\uff0c\u6216\u6b63\u5e38\u6c89\u9ed8\u57fa\u56e0\u7684\u6d3b\u5316\uff0c\u4f46\u5728\u7d2f\u53ca\u57fa\u56e0\u4e2d\u5e76\u4e0d\u5b58\u5728DNA\u5e8f\u5217\u7684\u6539\u53d8\u3002\u7ec4\u6210\u6027\u8868\u7a81\u53d8\uff08Constitutional epimutation\uff09\u662f\u6307\u5b58\u5728\u4e8e\u4e2a\u4f53\u7684\u6240\u6709\u7ec6\u80de\u3001\u5e76\u6784\u6210\u75be\u75c5\u8868\u578b\u57fa\u7840\u7684\u8868\u7a81\u53d8\uff0c\u4f46\u5b83\u672a\u5fc5\u662f\u80da\u7cfb\u6c34\u5e73\u7684\u7a81\u53d8\u3002 02 \u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\uff08MSI\uff09 2.1MSI\u7684\u5b9a\u4e49\u5fae\u536b\u661f\uff08Microsatellite\uff0cMS\uff09\u662f\u6307\u7ec6\u80de\u57fa\u56e0\u7ec4\u4e2d\u4ee5\u5c11\u6570\u51e0\u4e2a\u6838\u82f7\u9178\uff08\u591a\u4e3a1 ~ 6\u4e2a\uff09\u4e3a\u5355\u4f4d\u4e32\u8054\u91cd\u590d\u7684DNA\u5e8f\u5217\uff0c\u53c8\u79f0\u77ed\u4e32\u8054\u91cd\u590d\uff08Short tandem repeat\uff0cSTR\uff09\u3002\u7136\u800c\uff0c\u5f53\u53d1\u751fdMMR\u65f6\uff0c\u5fae\u536b\u661f\u51fa\u73b0\u7684\u590d\u5236\u9519\u8bef\u5f97\u4e0d\u5230\u7ea0\u6b63\u5e76\u4e0d\u65ad\u7d2f\u79ef\uff0c\u4f7f\u5f97\u5fae\u536b\u661f\u5e8f\u5217\u957f\u5ea6\u6216\u78b1\u57fa\u7ec4\u6210\u53d1\u751f\u6539\u53d8\uff0c\u79f0\u4e3a\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\u6027\uff08Microsatellite instability\uff0cMSI\uff09\uff0c\u540c\u65f6\u5bfc\u81f4\u57fa\u56e0\u7ec4\u5448\u73b0\u9ad8\u7a81\u53d8\u8868\u578b\u3002MSI\u6839\u636e\u7a0b\u5ea6\u88ab\u5206\u4e3a3\u7c7b\uff1a\u5fae\u536b\u661f\u9ad8\u5ea6\u4e0d\u7a33\u5b9a\u6027\uff08MSI-high\uff0cMSI-H\uff09\u3001\u5fae\u536b\u661f\u4f4e\u5ea6\u4e0d\u7a33\u5b9a\u6027\uff08MSI-low\uff0cMSI-L\uff09\u3001\u5fae\u536b\u661f\u7a33\u5b9a\uff08Microsatellite stability, MSS\uff09\u3002 2.2MSI\u7684\u4e34\u5e8a\u610f\u4e491993\u5e74\uff0cJacobs\u7b49\u4eba\u5728\u7ed3\u76f4\u80a0\u764c\u4e2d\u9996\u6b21\u53d1\u73b0MSI\u5728\u80bf\u7624\u8bca\u7597\u8fc7\u7a0b\u4e2d\u7684\u91cd\u5927\u4f5c\u7528\u3002\u968f\u540e\uff0c\u4e34\u5e8a\u7814\u7a76\u8868\u660eMSI-H\u5728\u4e0d\u540c\u764c\u79cd\u4e2d\u90fd\u6709\u4e00\u5b9a\u7684\u53d1\u751f\u7387\uff0c\u4f8b\u5982\u5df2\u77e5MSI-H\u53d1\u751f\u7387\u8f83\u9ad8\u7684\u5b9e\u4f53\u7624\u5305\u62ec\u5b50\u5bab\u5185\u819c\u764c\uff0820% ~ 30%\uff09\u3001\u80c3\u764c\uff0815% ~ 20%\uff09\u548c\u7ed3\u76f4\u80a0\u764c\uff0812% ~ 15%\uff0c\u5176\u4e2d\u2163\u671f\u7ed3\u76f4\u80a0\u764c4% ~ 5%\uff09\u7b49\u3002\u76ee\u524d\uff0cMSI\u5728\u6797\u5947\u7efc\u5408\u5f81\u7b5b\u67e5\u3001\u5206\u5b50\u5206\u578b\u3001\u9884\u540e\u53ca\u8f85\u52a9\u6cbb\u7597\u3001\u514d\u75ab\u6cbb\u7597\u7b49\u591a\u65b9\u9762\u5177\u6709\u91cd\u8981\u7684\u4e34\u5e8a\u610f\u4e49\u3002NCCN\u3001ESMO\u3001CSCO\u7b49\u56fd\u5185\u5916\u6743\u5a01\u764c\u75c7\u8bca\u7597\u3001\u7b5b\u67e5\u6307\u5357\u4ee5\u53ca\u5171\u8bc6\u5747\u63a8\u8350\uff0c\u5bf9\u5305\u62ec\u7ed3\u76f4\u80a0\u764c\u3001\u5b50\u5bab\u5185\u819c\u764c\u3001\u80c3\u764c\u5728\u5185\u7684\u591a\u79cd\u764c\u75c7\u60a3\u8005\u8fdb\u884cMSI\u68c0\u6d4b\u3002 MSI\u521d\u7b5b\u6797\u5947\u7efc\u5408\u5f81\u6797\u5947\u7efc\u5408\u5f81\uff08Lynch syndrome\uff0cLS\uff09\u53c8\u540d\u9057\u4f20\u6027\u975e\u606f\u8089\u6027\u7ed3\u76f4\u80a0\u764c\uff0c\u4e3a\u6700\u5e38\u89c1\u7684\u9057\u4f20\u6613\u611f\u6027\u7ed3\u76f4\u80a0\u764c\uff08\u9057\u4f20\u7387\u53ef\u8fbe50%\uff09\uff0c\u662f\u4e00\u79cd\u5e38\u67d3\u8272\u4f53\u663e\u6027\u9057\u4f20\u6027\u80bf\u7624\u7efc\u5408\u5f81\u3002\u4e00\u822c\u6797\u5947\u7efc\u5408\u5f81\u60a3\u8005\u63d0\u5347\u7ed3\u76f4\u80a0\u53ca\u5176\u4ed6\u591a\u90e8\u4f4d\uff08\u5305\u62ec\u5b50\u5bab\u3001\u5375\u5de2\u3001\u80c3\u3001\u5c0f\u80a0\u3001\u80f0\u817a\u3001\u809d\u80c6\u7cfb\u7edf\u3001\u4e0a\u5c3f\u9053\u3001\u8111\u548c\u76ae\u80a4\u7b49\uff09\u7f79\u60a3\u6076\u6027\u80bf\u7624\u7684\u98ce\u9669\uff0c\u56e0\u6b64\u5bf9\u7efc\u5408\u5f81\u7684\u7b5b\u67e5\u5728\u4e34\u5e8a\u4e0a\u663e\u5f97\u5c24\u4e3a\u91cd\u8981\u3002\u57fa\u4e8e\u5206\u5b50\u68c0\u6d4b\u65b9\u6cd5\uff0c\u6797\u5947\u7efc\u5408\u5f81\u4e3b\u8981\u662f\u7531\u4e8eMMR\u57fa\u56e0\uff08MLH1\u3001MSH2\u3001MSH6\u6216PMS2\uff09\u4e4b\u4e00\u53d1\u751f\u80da\u7cfb\u81f4\u75c5\u6027\u7a81\u53d8\u6240\u81f4\uff0c\u6216\u7531EPCAM\u57fa\u56e0\u7f3a\u5931\u5bfc\u81f4MSH2\u4e0d\u8868\u8fbe\u6240\u81f4\uff0c\u5176\u8868\u73b0\u5f80\u5f80\u4e3adMMR\u548c\uff08\u6216\uff09MSI-H\u8868\u578b\u3002 \u300a\u9057\u4f20\u6027\u7ed3\u76f4\u80a0\u764c\u4e34\u5e8a\u8bca\u6cbb\u548c\u5bb6\u7cfb\u7ba1\u7406\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6\uff082018\uff09\u300b\u6307\u51fa\uff0c\u5728\u6761\u4ef6\u5141\u8bb8\u7684\u60c5\u51b5\u4e0b\uff0c\u6240\u6709\u7ed3\u76f4\u80a0\u764c\uff08CRC\uff09\u60a3\u8005\u90fd\u8981\u8fdb\u884cMMR\u86cb\u767d\/MSI\u68c0\u6d4b\uff0c\u4ee5\u8fdb\u884c\u6797\u5947\u7efc\u5408\u5f81\u7684\u521d\u7b5b\u3002\u540c\u65f6\uff0c\u5bf9\u4e8e\u7ecf\u521d\u7b5b\u786e\u5b9a\u7684dMMR\/MSI-H\u60a3\u8005\uff0c\u518d\u8003\u8651\u6797\u5947\u7efc\u5408\u5f81\u76f8\u5173\u57fa\u56e0\u7684\u80da\u7cfb\u7a81\u53d8\u68c0\u6d4b\uff0c\u4ee5\u660e\u786e\u8bca\u65ad\u3002\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0cMMR\u86cb\u767d\/MSI\u68c0\u6d4b\u4f5c\u4e3a\u6797\u5947\u7efc\u5408\u5f81\u7684\u521d\u7b5b\u624b\u6bb5\uff0c\u53d1\u751f\u90e8\u5206\u6797\u5947\u60a3\u8005\u7684\u6f0f\u68c0\u4e5f\u662f\u4e0d\u53ef\u907f\u514d\u7684\u3002MMR\u86cb\u767d\u8868\u8fbe\u53caMSI\u72b6\u6001\u5224\u5b9a\u5bf9Lynch\u7efc\u5408\u5f81\u7684\u68c0\u6d4b\u654f\u611f\u5ea6\u5206\u522b\u4e3a83\uff05\u548c77% ~ 89%\uff0c\u63d0\u793a\u5373\u4f7f\u5bf9\u6240\u6709CRC\u60a3\u8005\u8fdb\u884cMMR\u6216MSI\u666e\u7b5b\uff0c\u4e5f\u53ef\u80fd\u5b58\u5728\u9ad8\u8fbe10%\u7684\u6f0f\u8bca\u7387\u3002Lynch\u7efc\u5408\u5f81\u7b5b\u67e5\u8bca\u65ad\u6d41\u7a0b MSI\u6307\u5bfc\u80bf\u7624\u5206\u5b50\u5206\u578b\u3001\u9884\u540e\u53ca\u8f85\u52a9\u6cbb\u7597\u5b50\u5bab\u5185\u819c\u764c\u662f\u5973\u6027\u751f\u6b96\u9053\u6700\u5e38\u89c1\u7684\u6076\u6027\u80bf\u7624\uff0c\u300a2022.V1\u7248\u5b50\u5bab\u5185\u819c\u764cNCCN\u6307\u5357\u300b\u6307\u51faMMR\u86cb\u767d\/MSI\u68c0\u6d4b\u662f\u5176\u5206\u5b50\u5206\u578b\u7684\u91cd\u8981\u73af\u8282\uff0c\u6709\u52a9\u4e8e\u5b8c\u5584\u5bf9\u5b50\u5bab\u5185\u819c\u764c\u80bf\u7624\u7ec4\u7ec7\u5206\u578b\u7684\u5927\u4f53\u75c5\u7406\u5b66\u68c0\u67e5\u3002MSI-H\u5728\u5b50\u5bab\u5185\u819c\u764c\u4e2d\u5360\u6bd420% ~ 30%\uff0c\u8be5\u578b\u5b50\u5bab\u5185\u819c\u764c\u5177\u6709\u7a81\u53d8\u9891\u7387\u9ad8\u3001\u62f7\u8d1d\u6570\u4f4e\u7684\u7279\u70b9\u3002MSI-H\u578b\u7684\u5b50\u5bab\u5185\u819c\u764c\u60a3\u8005\u9884\u540e\u4e2d\u7b49\uff0c\u5e76\u4e14\u8be5\u7c7b\u578b\u60a3\u8005\u4e00\u822c\u91c7\u7528\u653e\u7597\u6216\u653e\u7597\u8054\u5408\u5316\u7597\u7684\u65b9\u5f0f\u8fdb\u884c\u8f85\u52a9\u6cbb\u7597\uff0c\u76f8\u5bf9\u4e8e\u9776\u5411\u6cbb\u7597\uff0c\u8be5\u7c7b\u578b\u7684\u60a3\u8005\u66f4\u9002\u5408\u514d\u75ab\u6cbb\u7597\u3002 \u80c3\u764c\u5728\u6211\u56fd\u7684\u53d1\u75c5\u7387\u4f4d\u5c45\u7b2c\u4e09\uff0c\u6b7b\u4ea1\u7387\u4e5f\u8f83\u9ad8\u3002MSI\u4f5c\u4e3a\u80c3\u764c\u8bca\u7597\u6307\u5357\u4e2d\u2160\u7ea7\u63a8\u8350\u68c0\u6d4b\u7684\u5206\u5b50\u6807\u5fd7\u7269\uff0c\u6709\u52a9\u4e8e\u80c3\u764c\u5206\u5b50\u5206\u578b\uff0c\u8ba9\u60a3\u8005\u5f97\u5230\u5408\u7406\u7684\u6cbb\u7597\u3002\u80c3\u764c\u4e2dMSI-H\u60a3\u8005\u6bd4\u4f8b\u9ad8\u8fbe20%\uff0cMSI-H\u80c3\u764c\u503e\u5411\u4e8e\u80a0\u578b\u80c3\u764c\uff0c\u9884\u540e\u8f83\u597d\u3002\u4e34\u5e8a\u7814\u7a76\u62a5\u9053\uff0c\u9488\u5bf9MSI-H\/dMMR\u80c3\u764c\u60a3\u8005\uff0c\u4e0e\u5355\u7eaf\u624b\u672f\u76f8\u6bd4\uff0c\u63a5\u53d7\u672f\u524d\u5316\u7597+\u624b\u672f\u7684\u9884\u540e\u4e0d\u4f73\u3002\u603b\u7684\u6765\u8bf4\uff0c\u76f8\u8f83\u4e8eMSI-H\u60a3\u8005\uff0cMSI-L\/MSS\u66f4\u80fd\u4ece\u65b0\u8f85\u52a9\u5316\u7597\u4e2d\u83b7\u76ca\uff0c\u8fd9\u4e5f\u63d0\u793aMSI\/MMR\u72b6\u6001\u53ef\u80fd\u5e2e\u52a9\u80c3\u764c\u60a3\u8005\u51b3\u5b9a\u662f\u5426\u9700\u8981\u672f\u524d\u5316\u7597\u3002 MSI\u5df2\u7ecf\u6210\u4e3a\u4e86\u7ed3\u76f4\u80a0\u764c\u60a3\u8005\u4e2d\u6307\u5357\u5171\u8bc6\u63a8\u8350\u68c0\u6d4b\u7684\u5206\u5b50\u6807\u5fd7\u7269\u4e4b\u4e00\uff0c\u5177\u6709\u8bc4\u4f30\u9884\u540e\u53ca\u8f85\u52a9\u5316\u7597\u7b49\u591a\u91cd\u4e34\u5e8a\u610f\u4e49\u3002\u9996\u5148\uff0cMSI\u53ef\u4ee5\u4f5c\u4e3aII\u671fCRC\u60a3\u8005\u9884\u540e\u7684\u5206\u5b50\u6807\u8bb0\uff1aMSI-H\u9884\u540e\u597d\uff0c\u5bf95-FU\u4e0d\u654f\u611f\uff1bMSI-L\/MSS\u9884\u540e\u4e0d\u826f\uff0c5-FU\u7597\u6548\u597d\u3002\u540c\u65f6\uff0cMSI\u72b6\u6001\u53ef\u4ee5\u51b3\u7b56II\u671fCRC\u60a3\u8005\u662f\u5426\u9700\u8981\u91c7\u7528\u8f85\u52a9\u5316\u7597\uff1a1\uff09\u5bf9\u4e8edMMR\/MSI-H\u7684\u4f4e\u5371II\u671f\u60a3\u8005\uff0c\u4e0d\u9700\u8981\u91c7\u53d6\u8f85\u52a9\u5316\u7597\uff0c\u63a8\u8350\u89c2\u5bdf\uff1b2\uff09\u5bf9\u4e8eMSS\/MSI-L\u7684\u666e\u5371II\u671f\u60a3\u8005\uff0c\u63a8\u8350\u89c2\u5bdf\uff0c\u6216\u91c7\u7528\u5361\u57f9\u4ed6\u6ee8\u62165-FU\/LV\u8f85\u52a9\u6cbb\u7597\uff1b3\uff09\u5bf9\u4e8eMSS\/MSI-L\u7684\u9ad8\u5371II\u671f\u60a3\u8005\uff0c\u63a8\u8350CAPEOX\u6216mFOLFOX\u8054\u5408\u5316\u7597\u65b9\u6848\uff0c\u5355\u836f\u65b9\u6848\u4e3a\u5361\u57f9\u4ed6\u6ee8\uff08\u9996\u9009\uff09\u30015-FU\/LV\u30022021 CSCO\u7ed3\u76f4\u80a0\u764c\u8bca\u7597\u6307\u5357 \u5c0f\u80a0\u817a\u764c\u8d77\u6e90\u4e8e\u5341\u4e8c\u6307\u80a0\u3001\u7a7a\u80a0\u3001\u56de\u80a0\u3002\u300a2022.V1\u7248\u5c0f\u80a0\u817a\u764cNCCN\u6307\u5357\u300b\u6307\u51fa\uff0cII\u671f\u5c0f\u80a0\u817a\u764c\uff08SBA\uff09\u672f\u540e\u662f\u5426\u5e94\u63a5\u53d7\u8f85\u52a9\u5316\u7597\u4ee5\u53ca\u5e94\u63a5\u53d7\u4f55\u79cd\u836f\u7269\u6216\u65b9\u6848\u8fdb\u884c\u6cbb\u7597\uff0c\u9700\u8981\u7efc\u5408\u8003\u8651\u4e34\u5e8a\u75c5\u7406\u5206\u671f\u3001\u9ad8\u5371\u56e0\u7d20\u4ee5\u53caMSI\u72b6\u6001\uff1a1\uff09MSI-H\/dMMR\u7684II\u671f\u60a3\u8005\uff0c\u672f\u540e\u91c7\u53d6\u89c2\u5bdf\uff1b2\uff09MSS\/pMMR\u4e14\u65e0\u9ad8\u5371\u56e0\u7d20\u7684IIA\u671f\u60a3\u8005\uff0c\u53ef\u884c\u89c2\u5bdf\uff0c\u6216\u91c7\u7528\u5361\u57f9\u4ed6\u6ee8\u62165-FU\/LV\u8f85\u52a9\u6cbb\u7597\uff1b3\uff09MSS\/pMMR\u7684\u9ad8\u5371II\u671f\u60a3\u8005\uff0c\u91c7\u7528FOLFOX\u3001CAPEOX\u30015-FU\/LV\u6216\u5361\u57f9\u4ed6\u6ee8\u6cbb\u7597\uff0c\u4ea6\u53ef\u8003\u8651\u89c2\u5bdf\uff0c\u5bf9\u4e8e\u7b26\u5408\u98ce\u9669\u7684II\u671f\u5341\u4e8c\u6307\u80a0\u764c\u60a3\u8005\uff0c\u5982\u672f\u540e\u5207\u7f18\u9633\u6027\uff0c\u53ef\u91c7\u7528\u5361\u57f9\u4ed6\u6ee8\u62165-FU\u704c\u6ce8\u6cbb\u7597\u30022022.V1\u7248\u5c0f\u80a0\u817a\u764cNCCN\u6307\u5357 MSI\u9884\u6d4b\u6cdb\u764c\u79cd\u514d\u75ab\u6cbb\u7597\u7597\u65482016\u5e74\uff0c\u6b27\u6d32\u4e34\u5e8a\u80bf\u7624\u534f\u4f1a\uff08ESMO\uff09\u8f6c\u79fb\u6027\u7ed3\u76f4\u80a0\u764c\u5171\u8bc6\u6307\u5357\u63d0\u51fa\uff0cMSI\u68c0\u6d4b\u5bf9\u8f6c\u79fb\u6027\u7ed3\u76f4\u80a0\u764c\u60a3\u8005\u514d\u75ab\u68c0\u67e5\u70b9\u6291\u5236\u5242\u6cbb\u7597\u5177\u6709\u5f3a\u70c8\u7684\u9884\u6d4b\u4ef7\u503c\u3002\u5728\u4e00\u9879\u7eb3\u5165149\u4f8bMSI-H\u6216dMMR\u5b9e\u4f53\u7624\u60a3\u8005\u7684\u8bd5\u9a8c\u4e2d\uff0c\u5e15\u535a\u5229\u73e0\u5355\u6297\uff08Pembrolizumab\uff09\u6cbb\u7597\u7684\u603b\u7f13\u89e3\u7387\u4e3a39.6%\uff0c\u5176\u4e2d\u5b8c\u5168\u7f13\u89e3\u7387\u4e3a7.4%\uff0c\u90e8\u5206\u7f13\u89e3\u7387\u4e3a32.2%\uff1b\u8be5\u7814\u7a76\u4e2d\u7684\u7ed3\u76f4\u80a0\u764c\u3001\u5b50\u5bab\u5185\u819c\u764c\u3001\u80c6\u7ba1\u764c\u3001\u80c3\u764c\u6216\u80c3\u98df\u7ba1\u7ed3\u5408\u90e8\u817a\u764c\u3001\u80f0\u817a\u764c\u7b49\u764c\u75c7\u60a3\u8005\u5747\u53d6\u5f97\u4e86\u751f\u5b58\u83b7\u76ca\uff1b\u4ee5\u4e0a\u7ed3\u679c\u8868\u660e\uff0cMSI\u68c0\u6d4b\u7ed3\u679c\u4e0e\u60a3\u8005\u80fd\u5426\u4ece\u514d\u75ab\u68c0\u67e5\u70b9\u6291\u5236\u5242\u4e2d\u53d7\u76ca\u7d27\u5bc6\u76f8\u5173\uff0c\u540c\u65f6\u4e0d\u518d\u5c40\u9650\u4e8e\u80bf\u7624\u6765\u6e90\u30022017\u5e74\uff0cFDA\u6279\u51c6\u5e15\u535a\u5229\u73e0\u5355\u6297\u7528\u4e8eMSI-H\/dMMR\u665a\u671f\u5b9e\u4f53\u7624\u60a3\u8005\uff0c\u8fd9\u4e5f\u4f7f\u5f97MSI\u6210\u4e3a\u4e86\u6cdb\u764c\u79cd\u4e2d\u7099\u624b\u53ef\u70ed\u7684\u5206\u5b50\u6807\u5fd7\u7269\u3002\u76ee\u524d\uff0c\u968f\u7740\u56fd\u5185\u5916\u514d\u75ab\u68c0\u67e5\u70b9\u6291\u5236\u5242\u7eb3\u6b66\u5229\u5c24\u5355\u6297\u3001Dostarlimab\u548c\u6069\u6c83\u5229\u5355\u6297\uff08Envafolimab\uff09\u7b49\u9646\u7eed\u4e0a\u5e02\u53ca\u9002\u5e94\u75c7\u62d3\u5c55\uff0c\u8fdb\u4e00\u6b65\u63d0\u5347\u4e86dMMR\/MSI-H\u5b9e\u4f53\u7624\u60a3\u8005\u4ece\u514d\u75ab\u6cbb\u7597\u4e2d\u83b7\u76ca\u7684\u53ef\u80fd\u6027\u3002\u5404\u764c\u79cd\u63a5\u53d7\u5e15\u535a\u5229\u73e0\u5355\u6297\u6cbb\u7597\u7684\u83b7\u76ca\u60c5\u51b5 MSI-H\/dMMR\u5b9e\u4f53\u7624\u9002\u5e94\u75c7\u7684\u514d\u75ab\u68c0\u67e5\u6291\u5236\u5242\u56fd\u5185\u5916\u83b7\u6279\u60c5\u51b5 03 MSI\u7684\u68c0\u6d4b\u65b9\u6cd5\u53ca\u5176\u5bf9\u6bd4 \u68c0\u6d4b\u764c\u7ec6\u80de\u4e2dMSI\u7684\u72b6\u6001\uff0c\u65e2\u53ef\u76f4\u63a5\u68c0\u6d4bMSI\u5e8f\u5217\u7684\u53d8\u5316\u6765\u786e\u5b9a\uff0c\u4e5f\u53ef\u4f9d\u8d56MMR\u86cb\u767d\u7684\u8868\u8fbe\u60c5\u51b5\u6765\u5224\u65ad\u3002MSI\u68c0\u6d4b\u4e00\u822c\u901a\u8fc7\u5206\u5b50\u6c34\u5e73\u7684PCR\u68c0\u6d4b\u6280\u672f\u53ca\u9ad8\u901a\u91cf\u6d4b\u5e8f\u6280\u672f\uff08NGS\uff09\u6765\u5b9e\u73b0\uff0c\u800cMMR\u86cb\u767d\u7684\u8868\u8fbe\u60c5\u51b5\u7531\u514d\u75ab\u7ec4\u7ec7\u5316\u5b66\u6cd5\uff08IHC\uff09\u68c0\u6d4b\u83b7\u5f97\u3002\u4e00\u5b9a\u7a0b\u5ea6\u4e0a\uff0cdMMR \u2248 MSI-H\uff1bpMMR \u2248 MSS + MSI-L\u3002 3.1IHC\u68c0\u6d4bMMR\u86cb\u767dIHC\u68c0\u6d4bMMR\u86cb\u767d\u8868\u8fbe\u60c5\u51b5\u6765\u5224\u65adMSI\u7684\u72b6\u6001\uff0c\u4e3b\u8981\u96c6\u4e2d\u5728\u5bf94\u4e2a\u5e38\u89c1MMR\u86cb\u767dMLH1\u3001MSH2\u3001MSH6\u53caPMS2\u7684\u68c0\u6d4b\u3002\u4e0a\u8ff0MMR\u86cb\u767d\u5982\u4efb\u4e00\u53d1\u751f\u7f3a\u5931\uff08\u7f3a\u5931\u7528\u201c\uff0d\u201d\u8868\u793a\uff09\uff0c\u5219\u5224\u5b9a\u4e3adMMR\uff1b\u59824\u4e2a\u86cb\u767d\u5747\u6b63\u5e38\u8868\u8fbe\uff08\u6b63\u5e38\u7528\u201c\uff0b\u201d\u8868\u793a\uff09\uff0c\u5219\u79f0\u4e3apMMR\u3002\u9488\u5bf9dMMR\u60a3\u8005\uff0c\u9664\u4e86MLH1\u86cb\u767d\u7f3a\u5931\u4e14\u4f34\u6709BRAF\u7a81\u53d8\u548c\uff08\u6216\uff09MLH1\u7532\u57fa\u5316\u5916\uff0c\u5176\u4ed6\u60c5\u51b5\u9700\u8fdb\u4e00\u6b65\u68c0\u6d4bMMR\u57fa\u56e0\u80da\u7cfb+\u4f53\u7cfb\u7684\u7a81\u53d8\u68c0\u6d4b\u3002MMR-IHC\u68c0\u6d4b\u7ed3\u679c\u53ca\u63d0\u793a\u610f\u4e49 3.2\u591a\u91cd\u8367\u5149PCR\u6bdb\u7ec6\u7ba1\u7535\u6cf3\u6cd5\u68c0\u6d4bMSI\u591a\u91cd\u8367\u5149PCR\u6bdb\u7ec6\u7ba1\u7535\u6cf3\u6cd5\u662f\u68c0\u6d4bMSI\u7684\u201c\u91d1\u6807\u51c6\u201d\uff0c\u901a\u5e38\u68c0\u6d4b\u6b63\u5e38\u7ec4\u7ec7\u548c\u80bf\u7624\u7ec4\u7ec7\u4e2dMSI\u4f4d\u70b9\uff0c\u7136\u540e\u901a\u8fc7\u6bd4\u8f83\u786e\u5b9a\u80bf\u7624\u6837\u672c\u4e2d\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\u4f4d\u70b9\u6570\u91cf\u6765\u5224\u65ad\u80bf\u7624\u6837\u672c\u7684MSI\u72b6\u6001\u3002\u56fd\u5185\u4e13\u5bb6\u5171\u8bc6\u63a8\u8350\u91c7\u75285 ~ 7\u4e2a\u5fae\u536b\u661f\u4f4d\u70b9\u7ec4\u5408\uff08BAT-25\u3001BAT-26\u3001NR-21\u3001NR-22\u3001NR-24\u3001NR-27\u3001MONO-27\uff09\u8fdb\u884cMSI\u7684\u68c0\u6d4b\u3002\u76ee\u524d\uff0cPromega MSI\u5206\u6790\u7cfb\u7edf\u76845\u4e2a\u5fae\u536b\u661f\u6807\u8bb0\uff08BAT-25\u3001BAT-26\u3001NR-21\u3001NR-24\u3001MONO-27\uff09\u88ab\u89c6\u4e3aPCR-MSI\u68c0\u6d4b\u8f83\u4e3a\u4f18\u5f02\u7684\u9009\u62e9\u3002\u6b64\u5916\uff0c\u6700\u7ec8MSI\u7ed3\u679c\u7684\u5224\u8bfb\u4e00\u822c\u9075\u5faa\uff1a2\u4e2a\u62162\u4e2a\u4ee5\u4e0a\u6807\u8bb0\u663e\u793a\u4e0d\u7a33\u5b9a\u4e3aMSI-H\uff1b\u67091\u4e2a\u6807\u8bb0\u663e\u793a\u4e0d\u7a33\u5b9a\u4e3aMSI-L\uff1b\u6240\u6709\u4f4d\u70b9\u90fd\u7a33\u5b9a\u4e3aMSS\u3002 3.3\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672fNGS\u68c0\u6d4bMSI\u4e8c\u4ee3\u6d4b\u5e8f\u6280\u672fNGS\u57fa\u4e8e\u9ad8\u901a\u91cf\u6d4b\u5e8f\u5e73\u53f0\uff0c\u91c7\u7528\u8ba1\u7b97\u5de5\u5177\u5bf9\u80bf\u7624\u7ec4\u7ec7\u4e2d\u591a\u4e2aMS\u4f4d\u70b9\u8fdb\u884c\u68c0\u6d4b\u3002\u76ee\u524d\uff0cESMO\u7cbe\u51c6\u533b\u5b66\u5de5\u4f5c\u7ec4\uff08ESMO Precision Medicine Working Group\uff09\u63a8\u8350\u5c06NGS\u4f5c\u4e3aMSI\u7684\u4e8c\u7ebf\u68c0\u6d4b\u65b9\u6cd5\uff08second line testing\uff09\u3002\u7814\u7a76\u663e\u793a\uff0c\u57fa\u4e8eNGS\u7684MSI\u68c0\u6d4b\u7ed3\u679c\u4e0e\u4f20\u7edfPCR\u65b9\u6cd5\u6bd4\u8f83\u7684\u543b\u5408\u5ea6\u9ad8\u8fbe99%\uff0c\u4e0e\u7ecf\u75c5\u7406\u533b\u5e08\u53cc\u91cd\u786e\u8ba4\u7684IHC\u68c0\u6d4b\u7ed3\u679c\u543b\u5408\u5ea6\u4e3a92.4%\u3002\u57fa\u4e8eNGS\u5e73\u53f0\u7684MSI\u7b97\u6cd5 \u6ce8\uff1a*\u4ee3\u8868\u4e0e\u591a\u91cd\u8367\u5149PCR\u6bdb\u7ec6\u7ba1\u7535\u6cf3\u6bd4\u8f83 3.4\u4e0d\u540c\u68c0\u6d4b\u65b9\u6cd5\u7684\u6bd4\u8f83MMR\u4e0eMSI\u4e8c\u8005\u68c0\u6d4b\u7ed3\u679c\u7684\u4e00\u81f4\u6027\u8f83\u597d\uff0c\u76ee\u524d\u666e\u904d\u8ba4\u4e3a\u91c7\u7528\u4efb\u4f55\u4e00\u79cd\u68c0\u6d4b\u4f5c\u4e3aMSI-H\u80bf\u7624\u7684\u7b5b\u67e5\u65b9\u6cd5\u5747\u53ef\u63a5\u53d7\u3002\u9274\u4e8eMMR\u4e0eMSI\u5404\u81ea\u68c0\u6d4b\u65b9\u6cd5\u5b66\u7684\u4e0d\u540c\uff0c\u5728\u7279\u6b8a\u60c5\u51b5\u4e0b\u5177\u6709\u4e92\u8865\u6027\uff0c\u6545\u4e86\u89e3\u68c0\u6d4b\u65b9\u6cd5\u5404\u81ea\u7684\u4f18\u7f3a\u70b9\u6709\u52a9\u4e8e\u5176\u68c0\u6d4b\u7ed3\u679c\u6307\u5bfc\u4e34\u5e8a\u7684\u7cbe\u51c6\u5e94\u7528\u3002 IHC\u68c0\u6d4bMMR\u86cb\u767d\uff0c\u53ef\u64cd\u4f5c\u6027\u5f3a\uff0c\u4e14\u7ecf\u6d4e\u7701\u65f6\uff0c\u53ef\u4ee5\u5177\u4f53\u53cd\u6620\u529f\u80fd\u7f3a\u5931\u7684\u9519\u914d\u4fee\u590d\u86cb\u767d\u4fe1\u606f\u3002\u5bf9\u4e8e\u5c11\u6570MSH6\u80da\u7cfb\u7a81\u53d8\u75c5\u4f8b\u7684\u80bf\u7624\u7531\u4e8e\u9519\u914d\u4fee\u590d\u7cfb\u7edf\u7684\u529f\u80fd\u5197\u4f59\u4f5c\u7528\u53ef\u4e0d\u8868\u73b0\u4e3aMSI\uff0c\u4f46\u514d\u75ab\u7ec4\u7ec7\u5316\u5b66\u53ef\u68c0\u51fa\u86cb\u767d\u8868\u8fbe\u7f3a\u5931\uff0c\u56e0\u800c\u53ef\u5f25\u8865MSI-PCR\u68c0\u6d4b\u65b9\u6cd5\u7684\u5c40\u9650\u6027\u3002\u65e2\u5f80\u7814\u7a76\u7ed3\u679c\u8868\u660e\uff0cIHC-MMR\u4e0ePCR-MSI\u68c0\u6d4b\u7ed3\u679c\u543b\u5408\u7387\u53ef\u9ad8\u8fbe90%\u4ee5\u4e0a\uff0c\u4f46\u8be5\u7ed3\u8bba\u662f\u57fa\u4e8e\u5efa\u7acb\u53ef\u9760\u3001\u7ecf\u8ba4\u8bc1\u7684\u68c0\u6d4b\u5e73\u53f0\u57fa\u7840\u4e0a\u3002\u503c\u5f97\u6ce8\u610f\u7684\u662f\uff0cIHC\u7684\u5224\u8bfb\u5bf9\u75c5\u7406\u533b\u5e08\u8981\u6c42\u8f83\u9ad8\uff0c\u4e14\u4e34\u5e8a\u5b9e\u8df5\u8fc7\u7a0b\u4e2d\u4e5f\u96be\u514d\u4f1a\u51fa\u73b0\u86cb\u767d\u8868\u8fbe\u7ed3\u679c\u9519\u5224\u7684\u60c5\u51b5\u3002 \u591a\u91cd\u8367\u5149PCR\u6bdb\u7ec6\u7ba1\u7535\u6cf3\u6cd5\u68c0\u6d4bMSI\uff0c\u91c7\u7528\u6807\u51c6\u5316\u7684\u68c0\u6d4b\u6d41\u7a0b\uff0c\u7ed3\u679c\u7684\u5224\u8bfb\u8f83\u7b80\u5355\uff0c\u53ef\u4ee5\u76f4\u63a5\u7684\u53cd\u6620\u80bf\u7624\u7684MSI\u72b6\u6001\u3002\u5bf9\u5c11\u6570\u9519\u4e49\u7a81\u53d8\u5bfc\u81f4\u86cb\u767d\u529f\u80fd\u5f02\u5e38\u4f46\u5e76\u4e0d\u5f71\u54cd\u86cb\u767d\u7ffb\u8bd1\u548c\u6297\u539f\u6027\u65f6\uff0cMMR-IHC\u68c0\u6d4b\u53ef\u8bef\u5224\u4e3apMMR\uff0c\u800cMSI-PCR\u68c0\u6d4b\u6b63\u597d\u53ef\u4ee5\u5f25\u8865\u3002\u57fa\u4e8e\u8fc7\u5f80\u7684\u7814\u7a76\uff0cMSI-PCR\u68c0\u6d4b\u7684\u5047\u9633\u6027\u4f4e\u4e8eMMR-IHC\u6cd5\uff0c\u4f46\u5176\u68c0\u6d4b\u9700\u8981\u6b63\u5e38\u7ec4\u7ec7\uff08\u764c\u65c1\u7ec4\u7ec7\uff09\u4f5c\u4e3a\u5bf9\u7167\uff0c\u8d39\u7528\u76f8\u5bf9\u8f83\u9ad8\uff0c\u5bf9\u80bf\u7624\u7ec6\u80de\u7684\u542b\u91cf\u4e5f\u6709\u4e00\u5b9a\u7684\u9700\u6c42\uff0c\u65e0\u6cd5\u786e\u5b9a\u7a81\u53d8\u57fa\u56e0\u7684\u5177\u4f53\u4fe1\u606f\u3002\u540c\u65f6\uff0cMSI-H\u5728\u5b9e\u4f53\u7624\u4e2d\u666e\u904d\u5360\u6bd4\u8f83\u4f4e\uff0c\u5bf9\u4e8e\u591a\u6570\u5b9e\u4f53\u7624\u60a3\u8005\uff0c\u5355\u72ec\u8fdb\u884c MSI \u68c0\u6d4b\u7684\u6210\u672c-\u6548\u76ca\u6bd4\u8fc7\u4f4e\u3002 NGS\u68c0\u6d4bMSI\u7684\u4f18\u52bf\u4e3a\u901a\u91cf\u9ad8\uff0c\u80fd\u6781\u5927\u63d0\u9ad8\u5206\u5b50\u8bca\u65ad\u6548\u7387\uff0c\u6709\u5229\u4e8e\u964d\u4f4e\u6837\u672c\u91cf\u3002NGS-MSI\u53ef\u8986\u76d6\u7684\u5fae\u536b\u661f\u4f4d\u70b9\u9ad8\u8fbe\u6570\u5341\u81f3\u4e0a\u5343\u4e2a\uff0c\u8fdc\u591a\u4e8e\u4f20\u7edfPCR\u68c0\u6d4b\u65b9\u6cd5\u76845 ~ 7\u4e2a\u4f4d\u70b9\uff0c\u6709\u671b\u589e\u52a0\u975e\u7ed3\u76f4\u80a0\u764c\u6837\u672c\u68c0\u6d4b\u654f\u611f\u5ea6\uff0c\u4e14\u80fd\u540c\u6b65\u68c0\u6d4b\u80bf\u7624\u9776\u5411\u7528\u836f\u76f8\u5173\u57fa\u56e0\u7a81\u53d8\u4ee5\u53caTMB\uff08\u5927NGS panel\uff09\u3001MMR\u57fa\u56e0\u4f53\u7cfb\/\u80da\u7cfb\u7a81\u53d8\uff08\u80da\u7cfb\u7a81\u53d8\u786e\u8bcaLynch\u7efc\u5408\u5f81\uff0c\u4f53\u7cfb\u7a81\u53d8\u4e3a\u6563\u53d1\uff09\u7b49\u3002NGS-MSI\u7684\u666e\u53ca\u5c40\u9650\u4e8e\u5b83\u76f8\u5bf9\u8f83\u9ad8\u7684\u6210\u672c\uff0c\u5176\u4e2d\u4e5f\u5305\u62ec\u5bf9\u5176\u6570\u636e\u5206\u6790\u7684\u6280\u672f\u8981\u6c42\uff0c\u6545\u4e00\u822c\u4e0d\u63a8\u8350NGS\u5355\u72ec\u7528\u4e8eMSI\u68c0\u6d4b\u3002MMR\u548cMSI\u68c0\u6d4b\u65b9\u6cd5\u7684\u6bd4\u8f83 04 MSI\u4e0eMMR\u4e0d\u4e00\u81f4\u73b0\u8c61\u53ca\u53ef\u80fd\u539f\u56e0 PCR-MSI\u4e0eIHC-MMR\u4e24\u79cd\u65b9\u6cd5\u7684\u539f\u7406\u4ee5\u53ca\u5b9e\u9a8c\u64cd\u4f5c\u5b58\u5728\u5dee\u5f02\uff0c\u8fd9\u4e5f\u5ba2\u89c2\u8bf4\u660e\u4e24\u8005\u7684\u7ed3\u679c\u4f1a\u51fa\u73b0\u4e0d\u4e00\u81f4\u7684\u60c5\u51b5\u3002MSI\u4e0eMMR\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u539f\u56e0\u4e00\u76f4\u662f\u6574\u4e2a\u68c0\u6d4b\u9886\u57df\u6fc0\u70c8\u8ba8\u8bba\u7684\u95ee\u9898\uff0c\u4e0b\u9762\u5185\u5bb9\u5c31MSI\u4e0eMMR\u4e0d\u4e00\u81f4\u7684\u4e24\u79cd\u60c5\u51b5\u53ca\u539f\u56e0\u8fdb\u884c\u603b\u7ed3\u8bf4\u660e\u3002 4.1dMMR\u4e14MSI-L\/MSS\u7684\u539f\u56e0 MMR\u86cb\u767d\u529f\u80fd\u4ee3\u507fIHC\u68c0\u6d4b\u9488\u5bf9\u7684\u662fMMR\u86cb\u767d\u5bb6\u65cf\u4e2d\u5e38\u89c1\u76844\u4e2a\u86cb\u767d\uff0c\u5b83\u4eec\u4e2d\u7684\u67d0\u4e9b\u86cb\u767d\u53d1\u751f\u7f3a\u5931\u4f1a\u6709\u5176\u4ed6\u86cb\u767d\u4ee3\u507f\u5176\u529f\u80fd\u3002\u5176\u4e2d\uff0c\u6700\u5178\u578b\u7684\u662fMSH3\u86cb\u767d\u4ee3\u507fMSH6\u86cb\u767d\uff1aMutS\u03b1\uff08MSH2-MSH6\u4e8c\u805a\u4f53\uff09\u6216MutS\u03b2\uff08MSH2-MSH3\u4e8c\u805a\u4f53\uff09\u5747\u662f\u9519\u914d\u8bc6\u522b\u86cb\u767d\uff0c\u800cMSH3\u86cb\u767d\u4e0d\u5728IHC\u68c0\u6d4b\u8303\u56f4\u5185\uff0c\u5f53MSH6\u86cb\u767d\u8868\u8fbe\u7f3a\u5931\u65f6\uff0cIHC\u68c0\u6d4b\u7ed3\u679c\u4e3adMMR\uff1b\u4f46MSH3\u53ef\u4ee5\u4ee3\u507fMSH6\u86cb\u767d\u529f\u80fd\uff0c\u6545MSI\u68c0\u6d4b\u7ed3\u679c\u53c8\u4e3aMSS-L\/MSS\u3002 \u6807\u8bb0\u4f4d\u70b9\u7684\u9009\u62e9\u91c7\u7528PCR\u6cd5\u68c0\u6d4bMSI\u72b6\u6001\uff0cMSI\u6807\u8bb0\u7684\u9009\u62e9\u5bf9\u5176\u7ed3\u679c\u4f1a\u6709\u4e00\u5b9a\u7684\u5f71\u54cd\u3002\u4f8b\u5982\uff0cMSH6\u4e3b\u8981\u8bc6\u522b\u5355\u78b1\u57fa\u7684\u9519\u914d\uff0c\u4f7f\u7528\u53cc\u6838\u82f7\u9178\u4f4d\u70b9\u7684MSI\u6807\u8bb0\u53ef\u80fd\u4f1a\u53d1\u751fMSH6\u7f3a\u5931\u8868\u8fbe\u7684\u6f0f\u68c0\uff0c\u6545\u5efa\u8bae\u4f7f\u7528\u4ec5\u542b\u5355\u6838\u82f7\u9178\u4f4d\u70b9\u7684\u6807\u8bb0\u3002\u6362\u8a00\u4e4b\uff0c\u5f53MSH6\u8868\u8fbe\u7f3a\u5931\u65f6\uff0cIHC\u68c0\u6d4b\u7ed3\u679c\u663e\u793a\u4e3adMMR\uff1b\u82e5\u4f7f\u7528\u53cc\u6838\u82f7\u9178\u4f4d\u70b9\u7684\u6807\u8bb0\uff0cMSI-PCR\u7684\u68c0\u6d4b\u7ed3\u679c\u53ef\u80fd\u4f1a\u663e\u793aMSS-L\/MSS\u3002 \u80bf\u7624\u5f02\u8d28\u6027\u817a\u7624\u662f\u7ed3\u76f4\u80a0\u764c\u7684\u524d\u9a71\u75c5\u53d8\u8868\u73b0\uff0c\u5728\u6797\u5947\u7efc\u5408\u5f81\u60a3\u8005\u4e2d\u5177\u6709\u53d1\u75c5\u65e9\u548c\u75be\u75c5\u8fdb\u5c55\u5feb\u7684\u7279\u70b9\u3002\u7814\u7a76\u8868\u660e\uff0c\u5728\u4f4e\u7ea7\u522b\u817a\u7624\u4e2d\uff0cdMMR\u4e8b\u4ef6\u7684\u53d1\u751f\u6bd4MSI-H\u4e8b\u4ef6\u7684\u53d1\u751f\u76f8\u5bf9\u66f4\u65e9\uff0c\u6362\u8a00\u4e4b\uff0cIHC\u68c0\u6d4b\u7ed3\u679c\u663e\u793adMMR\uff0c\u4f46MSI\u68c0\u6d4b\u7ed3\u679c\u5374\u53ef\u80fd\u4e0d\u4f1a\u51fa\u73b0MSI-H\u3002\u56e0\u6b64\uff0c\u4f4e\u7ea7\u522b\u817a\u7624\u7684MMR\/MSI\u72b6\u6001\u53ef\u80fd\u4e0e\u764c\u75c7\u7ec4\u7ec7\u4e2d\u4e0d\u4e00\u6837\uff0c\u4e5f\u6b63\u662f\u80bf\u7624\u5f02\u8d28\u6027\u5bfc\u81f4\u4e86\u8fd9\u79cd\u7ed3\u679c\u7684\u5dee\u5f02\u3002\u5176\u6b21\uff0c\u5728\u6563\u53d1\u6027\u7ed3\u76f4\u80a0\u764c\u4e2d\uff0cMLH1\u542f\u52a8\u5b50\u7684\u7532\u57fa\u5316\u6216MLH1\u57fa\u56e0\u7684\u81f4\u75c5\u6027\u7a81\u53d8\u5bfc\u81f4\u7684\u5f02\u8d28\u6027\u4e5f\u662fMLH1\u86cb\u767d\u7f3a\u5931\uff08dMMR\uff09\u4e14MSS\u7684\u539f\u56e0\u4e4b\u4e00\u3002 \u65b0\u8f85\u52a9\u6cbb\u7597\u53ef\u80fd\u5f71\u54cdMMR\u86cb\u767d\u8868\u8fbe\u65b0\u8f85\u52a9\u6cbb\u7597\u524d\u540e\u7684IHC-MMR\u86cb\u767d\u68c0\u6d4b\u7ed3\u679c\u4e5f\u4f1a\u51fa\u73b0\u5dee\u5f02\u3002\u4f8b\u5982\uff0c\u7814\u7a76\u663e\u793a\u65b0\u8f85\u52a9\u653e\u5316\u7597\u540e\u7684\u76f4\u80a0\u764c\u53ef\u80fd\u51e0\u4e4e\u5b8c\u5168\u4e27\u5931MSH6\u67d3\u8272\u6216\u4ec5\u6709\u6838\u4ec1\u67d3\u8272\uff0c\u540c\u65f6\u7ea630%\u7684\u76f4\u80a0\u764c\u51fa\u73b0PMS2\u67d3\u8272\u51cf\u5f31\uff0c\u8fd9\u53ef\u80fd\u5bfc\u81f4\u6700\u7ec8IHC-MMR\u86cb\u767d\u68c0\u6d4b\u7ed3\u679c\u4e3adMMR\uff0c\u800cMSI\u72b6\u6001\u5374\u663e\u793a\u4e3aMSS\u3002 4.2pMMR\u4e14MSI-H\u7684\u539f\u56e0 \u5176\u4ed6MMR\u86cb\u767d\u53d1\u751f\u7f3a\u9677\u514d\u75ab\u7ec4\u5316\u6cd5\uff08IHC\uff09\u4ec5\u6d89\u53caMMR\u86cb\u767dMLH1\u3001MSH2\u3001MSH6\u53caPMS2\u7684\u68c0\u6d4b\uff0c\u5b9e\u9645\u4e0a\uff0cMMR\u86cb\u767d\u5305\u62ec\u4ee5\u4e0a4\u79cd\u4f46\u4e0d\u9650\u4e8e\u5b83\u4eec\u3002\u56e0\u6b64\uff0c\u5f53IHC\u7684\u7ed3\u679c\u663e\u793apMMR\u65f6\uff0c\u53ef\u80fd\u4f1a\u6709IHC\u672a\u68c0\u6d4b\u5230\u6216\u672a\u8bc6\u522b\u7684MMR\u57fa\u56e0\u53d1\u751f\u7a81\u53d8\u5f15\u8d77MMR\u7f3a\u9677\uff0c\u6b64\u65f6MSI\u7684\u7ed3\u679c\u4f1a\u8868\u73b0\u4e3aMSI-H\u3002 \u7f16\u7801MMR\u86cb\u767d\u7684\u57fa\u56e0\u53d1\u751f\u9519\u4e49\u7a81\u53d8\u5f53\u7f16\u7801MLH1\u3001MSH2\u3001MSH6\u3001PMS2\u56db\u4e2a\u86cb\u767d\u7684\u57fa\u56e0\u53d1\u751f\u9519\u4e49\u7a81\u53d8\u65f6\uff0cMMR\u86cb\u767d\u529f\u80fd\u4f1a\u51fa\u73b0\u5f02\u5e38\u4f46\u5176\u6297\u539f\u7ed3\u6784\u53ef\u80fd\u4e0d\u4f1a\u53d7\u5230\u5f71\u54cd\u3002\u8fd9\u79cd\u60c5\u51b5\u4e0b\uff0cIHC\u68c0\u6d4b\u5230MMR\u86cb\u767d\u662f\u6b63\u5e38\u8868\u8fbe\u7684\uff0c\u5373pMMR\uff0c\u4f46\u5176\u5b9e\u9519\u914d\u4fee\u590d\u529f\u80fd\u662f\u5f02\u5e38\u7684\uff0c\u8fd9\u4e5f\u5c31\u5bfc\u81f4\u4e86MSI\u7684\u68c0\u6d4b\u7ed3\u679c\u663e\u793a\u4e3aMSI-H\u3002 \u8c03\u63a7MMR\u7cfb\u7edf\u7684\u5176\u4ed6\u86cb\u767d\u529f\u80fd\u5f02\u5e38\u901a\u5e38\uff0cMMR\u7cfb\u7edf\u7684\u6b63\u5e38\u8fd0\u884c\u4f9d\u9760\u8bb8\u591a\u7cfb\u7edf\u5916\u7684\u5176\u4ed6\u86cb\u767d\u8c03\u63a7\uff0c\u4f8b\u5982\u8868\u89c2\u9057\u4f20\u7ec4\u86cb\u767d\u6807\u8bb0H3K36me3\u53ef\u4ee5\u4e0eMSH6\u76f4\u63a5\u4f5c\u7528\u62db\u52df\u590d\u5408\u4f53MutS\u03b1\uff0c\u8fdb\u800c\u8c03\u63a7MMR\u529f\u80fd\u3002\u7136\u800c\uff0c\u5f53\u7cfb\u7edf\u7f3a\u4e4fH3K36\u4e09\u7532\u57fa\u8f6c\u79fb\u9176SETD2\u65f6\uff0cMMR\u7cfb\u7edf\u53d1\u751f\u7d0a\u4e71\uff0cIHC\u68c0\u6d4b\u7ed3\u679c\u4e3apMMR\uff0c\u4f46MSI\u7684\u72b6\u6001\u4ecd\u4f1a\u663e\u793a\u4e3aMSI-H\u3002 POLE\u57fa\u56e0\u6838\u9178\u5916\u5207\u9176\u533a\u57df\u7684\u7a81\u53d8\u9664\u4e86\u4ee5\u4e0a\u5173\u4e4eMMR\u86cb\u767d\u53caMMR\u7cfb\u7edf\u81ea\u8eab\u7684\u7f18\u7531\u4e4b\u5916\uff0c\u673a\u4f53\u7684\u4e00\u4e9b\u53d8\u5f02\u4e5f\u53ef\u80fd\u6210\u4e3aMMR\u548cMSI\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u539f\u56e0\u4e4b\u4e00\u3002\u76ee\u524d\uff0c\u5df2\u6709\u5c11\u91cf\u6587\u7ae0\u62a5\u9053POLE\u57fa\u56e0\u6838\u9178\u5916\u5207\u9176\u533a\u57df\u7684\u7a81\u53d8\u4e5f\u53ef\u4ee5\u89e3\u91capMMR\u4e14MSI-H\u73b0\u8c61\uff0c\u4f46\u8fd9\u79cd\u6982\u7387\u4f4e\uff0c\u4ec5\u5c0f\u4e8e1%\u3002 4.3\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u5904\u7406\u65b9\u6cd5\u7efc\u5408\u4e0a\u8ff0MSI\u4e0eMMR\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u5404\u79cd\u60c5\u51b5\uff0c\u4e86\u89e3\u5230\u8fd9\u79cd\u7ed3\u679c\u5dee\u5f02\u6765\u6e90\u4e8e\u6280\u672f\u3001\u673a\u7406\u53ca\u5224\u8bfb\u7b49\u591a\u65b9\u9762\u539f\u56e0\u3002\u4e3a\u4e86\u63d0\u9ad8\u9633\u6027\u7b5b\u67e5\u7387\u4e14\u8ba9\u60a3\u8005\u83b7\u5f97\u66f4\u5927\u7684\u4e34\u5e8a\u6548\u76ca\uff0c\u4e0d\u7ba1\u5728LS\u7684\u7b5b\u67e5\u3001\u80bf\u7624\u60a3\u8005\u6cbb\u7597\u6307\u5bfc\u53ca\u514d\u75ab\u68c0\u67e5\u70b9\u6291\u5236\u5242\u6cbb\u7597\u524d\uff0c\u90fd\u5efa\u8bae\u884cMSI\u53caMMR\u68c0\u6d4b\uff0c\u8054\u5408\u4e24\u8005\u7684\u7ed3\u679c\u7ed9\u51fa\u66f4\u597d\u7684\u4e34\u5e8a\u51b3\u7b56\u3002CAP\u6700\u65b0\u6307\u5357\u6307\u51fa\uff0c\u5f53\u51fa\u73b0MSI\u4e0eMMR\u7ed3\u679c\u4e0d\u4e00\u81f4\u65f6\uff0c\u5e94\u8be5\u5bf9\u4e0d\u4e00\u81f4\u7684\u7ed3\u679c\u8fdb\u884c\u5ba1\u67e5\uff0c\u4ee5\u786e\u4fdd\u4e0d\u4e00\u81f4\u7684\u7ed3\u679c\u4e0d\u662f\u7531\u4e8e\u89e3\u91ca\u4e0a\u7684\u9519\u8bef\u3002\u300a\u7ed3\u76f4\u80a0\u764c\u53ca\u5176\u4ed6\u76f8\u5173\u5b9e\u4f53\u7624\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\u6027\u68c0\u6d4b\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6\u300b\u540c\u65f6\u6307\u51fa\uff0c\u5982\u679c\u9047\u5230\u60a3\u8005\u540c\u65f6\u8fdb\u884cIHC-MMR\u86cb\u767d\u8868\u8fbe\u548cDNA\u5206\u6790\uff08PCR\u6216NGS\u6cd5\uff09MSI\u72b6\u6001\u68c0\u6d4b\u4e14\u68c0\u6d4b\u7ed3\u679c\u4e0d\u4e00\u81f4\u7684\u60c5\u51b5\uff0c\u53ef\u8003\u8651\u91c7\u7528\u7b2c3\u79cd\u65b9\u6cd5\uff08NGS\u6216PCR\u6cd5\uff09\u8fdb\u884c\u9a8c\u8bc1\uff08\u90e8\u5206\u4e13\u5bb6\u63a8\u8350\uff09\u3002 05 \u5b89\u9f99\u57fa\u56e0MSI\u68c0\u6d4b\u5957\u9910 MSI\u68c0\u6d4b\u7ed3\u679c\u5173\u8054\u7740\u6797\u5947\u7efc\u5408\u5f81\u7684\u7b5b\u67e5\u3001\u80bf\u7624\u5206\u5b50\u5206\u578b\u3001\u9884\u540e\u53ca\u8f85\u52a9\u6cbb\u7597\u3001\u6cdb\u764c\u79cd\u514d\u75ab\u7597\u6548\u7b49\u4e34\u5e8a\u53d7\u76ca\u5185\u5bb9\u3002\u76ee\u524d\uff0cNCCN\/CSCO\u6307\u5357\u63a8\u8350MSI\u68c0\u6d4b\u7684\u7624\u79cd\u6709\uff1a\u7ed3\u76f4\u80a0\u764c\u3001\u80c3\u764c\u3001\u5b50\u5bab\u5185\u819c\u764c\u3001\u5c0f\u80a0\u817a\u764c\u3001\u80f0\u817a\u764c\u3001\u524d\u5217\u817a\u764c\u3001\u98df\u7ba1\u764c\u6216\u80c3\u98df\u7ba1\u4ea4\u754c\u80bf\u7624\u3001\u5bab\u9888\u764c\u3001\u5375\u5de2\u764c\u3001\u809d\u80c6\u80bf\u7624\u3001\u4e73\u817a\u764c\u7b49\u3002\u6b64\u5916\uff0c\u9488\u5bf9\u9700\u8981\u8fdb\u884c\u6797\u5947\u7efc\u5408\u5f81\u7b5b\u67e5\u6216\u5bfb\u6c42\u514d\u75ab\u6cbb\u7597\u7684\u5b9e\u4f53\u7624\u60a3\u8005\uff0c\u4e5f\u63a8\u8350\u8fdb\u884cMSI\u72b6\u6001\u7684\u68c0\u6d4b\u3002\u672c\u516c\u53f8\u57fa\u4e8e\u591a\u91cd\u8367\u5149PCR\u6bdb\u7ec6\u7ba1\u7535\u6cf3\u6cd5\u548cNGS\u6cd5\u4e24\u79cd\u68c0\u6d4b\u624b\u6bb5\uff0c\u5f00\u53d1\u5e76\u63a8\u51fa\u4e86\u4e00\u7cfb\u5217MSI\u68c0\u6d4b\u5957\u9910\uff0c\u4e3b\u8981\u5305\u62ecMSI\u5355\u68c0\u9879\u76ee\u3001\u5b89\u53f8\u5eb7-139\/168\/269\u68c0\u6d4b\u5957\u9910\u3001\u5b89\u62e9\u5eb7-550\/550 TMB\/1028\u68c0\u6d4b\u5957\u9910\uff0c\u8fdb\u4e00\u6b65\u8bc4\u4f30\u4e86\u514d\u75ab\u53ca\u5316\u7597\u836f\u7269\u7684\u7597\u6548\uff0c\u6781\u5927\u5730\u63d0\u9ad8\u4e86\u80bf\u7624\u60a3\u8005\u4e34\u5e8a\u83b7\u76ca\u7684\u53ef\u80fd\u6027\u3002\u5b89\u9f99\u57fa\u56e0MSI\u68c0\u6d4b\u9879\u76ee\u53ca\u5957\u9910 \u53c2\u8003\u6587\u732e [1]\u4e2d\u56fd\u4e34\u5e8a\u80bf\u7624\u5b66\u4f1a\u7ed3\u76f4\u80a0\u764c\u4e13\u5bb6\u59d4\u5458\u4f1a. \u7ed3\u76f4\u80a0\u764c\u53ca\u5176\u4ed6\u76f8\u5173\u5b9e\u4f53\u7624\u5fae\u536b\u661f\u4e0d\u7a33\u5b9a\u6027\u68c0\u6d4b\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6[J]. 2019,34(5):381-389. [2]\u4e2d\u56fd\u6297\u764c\u534f\u4f1a\u5927\u80a0\u764c\u4e13\u4e1a\u59d4\u5458\u4f1a\u9057\u4f20\u5b66\u7ec4. \u9057\u4f20\u6027\u7ed3\u76f4\u80a0\u764c\u4e34\u5e8a\u8bca\u6cbb\u548c\u5bb6\u7cfb\u7ba1\u7406\u4e2d\u56fd\u4e13\u5bb6\u5171\u8bc6[J]. \u5b9e\u7528\u80bf\u7624\u6742\u5fd7,2018,33(1):3-16. [3]Ryan E, Sheahan K, Creavin B, et al. The current value of determining the mismatch repair status of colorectal cancer: A rationale for routine testing. Crit Rev Oncol Hematol. 2017,116:38-57. [4]Biller LH, Syngal S, Yurgelun MB. Recent advances in Lynch syndrome. Fam Cancer. 2019,18(2):211-219. [5]Endometrial Carcinoma [J]. NCCN guidelines,Version1. 2022. [6]Gastric Cancer [J]. NCCN guidelines,Version2. 2022. [7]\u4e2d\u56fd\u4e34\u5e8a\u80bf\u7624\u5b66\u4f1a\uff08CSCO\uff09\u7ed3\u76f4\u80a0\u764c\u8bca\u7597\u6307\u5357. 2021. [8]Small Bowel Adenocarcinoma [J]. NCCN guidelines,Version1. 2022. [9]Le DT, Durham JN, Smith KN, et al. Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade. Science. 2017,357(6349):409-413. [10]Wang F, Wang ZX, Chen G, et al. Expert opinions on immunotherapy for patients with colorectal cancer. Cancer Commun. 2020,40(10):467-472. [11]Hempelmann JA, Lockwood CM, Konnick EQ, et al. Microsatellite instability in prostate cancer by PCR or next-generation sequencing. J Immunother Cancer. 2018,6(1):29. [12]Markow M, Chen W, Frankel WL. Immunohistochemical Pitfalls: Common Mistakes in the Evaluation of Lynch Syndrome. Surg Pathol Clin. 2017,10(4):977-1007. [13]Wu Y, Berends MJ, Mensink RG, et al. Association of hereditary nonpolyposis colorectal cancer-related tumors displaying low microsatellite instability with MSH6 germline mutations. Am J Hum Genet. 1999,65(5):1291-1298. [14]Lassmann S, Werner M. A commentary on the article \"Prevalence of the mismatch repair-deficient phenotype in colonic adenomas arising in HNPCC patients--results of a 5-year follow-up study\". Int J Colorectal Dis. 2006,21(7):642-644. [15]Shia J. Immunohistochemistry versus microsatellite instability testing for screening colorectal cancer patients at risk for hereditary nonpolyposis colorectal cancer syndrome. Part I. The utility of immunohistochemistry. J Mol Diagn. 2008,10(4):293-300. [16]Li F, Mao G, Tong D, et al. The histone mark H3K36me3 regulates human DNA mismatch repair through its interaction with MutS\u03b1. Cell. 2013,153(3):590-600. [17]Stelloo E, Jansen AML, Osse EM, et al. Practical guidance for mismatch repair-deficiency testing in endometrial cancer. Ann Oncol. 2017,28(1):96-102. [18]Cohen R, Hain E, Buhard O, et al. Association of Primary Resistance to Immune Checkpoint Inhibitors in Metastatic Colorectal Cancer With Misdiagnosis of Microsatellite Instability or Mismatch Repair Deficiency Status. JAMA Oncol. 2019,5(4):551-555. \u5b89\u9f99\u57fa\u56e0\u5b89\u5fbd\u5b89\u9f99\u57fa\u56e0\u79d1\u6280\u6709\u9650\u516c\u53f8\uff08\u7b80\u79f0\u5b89\u9f99\u57fa\u56e0\uff09\u6210\u7acb\u4e8e2016\u5e749\u67081\u65e5\uff0c\u521b\u59cb\u56e2\u961f\u6210\u5458\u6765\u81ea\u6e05\u534e\u5927\u5b66\u533b\u5b66\u9662\uff0c\u662f\u4e00\u5bb6\u540c\u65f6\u62e5\u6709\u7b2c\u4e09\u65b9\u68c0\u6d4b\u670d\u52a1\u548cIVD\u8bd5\u5242\u53ca\u4eea\u5668\u7814\u53d1\u3001\u751f\u4ea7\u3001\u6ce8\u518c\u548c\u9500\u552e\u4e3a\u4e00\u4f53\u7684\u56fd\u5bb6\u9ad8\u65b0\u6280\u672f\u4f01\u4e1a\u3002 \u516c\u53f8\u7814\u53d1\u7684\u6280\u672f\u6ce8\u91cd\u4e34\u5e8a\u5e94\u7528\u4fbf\u5229\u6027\uff0c\u5177\u6709\u66f4\u7b80\u4fbf\u7684\u64cd\u4f5c\u548c\u66f4\u5feb\u901f\u7684\u6d41\u7a0b\uff1b\u76ee\u524d\u5df2\u5f00\u53d1\u4e86\u5305\u62ecOmegaSeq\u6269\u589e\u5b50\u6355\u83b7\u5efa\u5e93\u6280\u672f\u3001\u591a\u91cd\u5f15\u7269\/\u63a2\u9488\u53cc\u963b\u65adctDNA\u7532\u57fa\u5316\u68c0\u6d4b\u6280\u672f\u4ee5\u53ca\u81ea\u52a8\u5316\u6570\u636e\u5206\u6790\u6280\u672f\u7b49\u591a\u9879\u80bf\u7624\u7cbe\u51c6\u533b\u7597\u4f34\u968f\u8bca\u65ad\/\u8f85\u52a9\u8bca\u7597\u6280\u672f\uff0c\u5df2\u5efa\u7acb10\u4e07\u4f59\u4f8b\u8fd130\u79cd\u764c\u75c7\u57fa\u56e0\u6570\u636e\u5e93\uff0c\u5f62\u6210\u4e86\u4f01\u4e1a\u5728\u884c\u4e1a\u5185\u7684\u6280\u672f\u58c1\u5792\u3002 \u6b64\u5916\uff0c\u8fd8\u642d\u5efa\u4e86\u5305\u62ecPCR\u3001\u6570\u5b57PCR\u3001\u4e00\u4ee3\u6d4b\u5e8f\u3001\u4e8c\u4ee3\u6d4b\u5e8f\u7b49\u5728\u5185\u7684\u591a\u79cd\u68c0\u6d4b\u5e73\u53f0\uff0c\u7b2c\u4e09\u65b9\u68c0\u6d4b\u670d\u52a1\u4ea7\u54c1\u8986\u76d6\u4e86\u7cbe\u51c6\u514d\u75ab\u6cbb\u7597\u3001\u80bf\u7624\u7cbe\u51c6\u7528\u836f\u6307\u5bfc\u3001\u80bf\u7624\u65e9\u671f\u7b5b\u67e5\u3001\u80bf\u7624\u9057\u4f20\u6027\u7b5b\u67e5\u53ca\u9884\u540e\u9884\u6d4b\u7b49\u5168\u5468\u671f\u670d\u52a1\uff0c\u63d0\u4f9b\u80bf\u7624\u7cbe\u51c6\u8bca\u7597\u6574\u4f53\u89e3\u51b3\u65b9\u6848\u3002\u516c\u53f8\u62e5\u6709\u591a\u4e2a\u56fd\u5185\u9996\u521b\u764c\u75c7\u65e9\u7b5b\u4ea7\u54c1\uff0c\u5e76\u9488\u5bf9\u4e34\u5e8a\u5f00\u53d1\u4e86\u62e5\u6709\u81ea\u4e3b\u77e5\u8bc6\u4ea7\u6743\u3001\u56fd\u5185\u9996\u521b\u7684\u5168\u81ea\u52a8\u6838\u9178\u63d0\u53d6\u786b\u5316\u4eea\u3002 \u76ee\u524d\u5b89\u9f99\u57fa\u56e0\u5df2\u7533\u8bf730\u4f59\u9879\u77e5\u8bc6\u4ea7\u6743\uff0c\u4ee5\u6ee1\u5206\u6210\u7ee9\u901a\u8fc7\u591a\u9879\u5168\u56fd\u4e34\u5e8a\u68c0\u9a8c\u5ba4\u95f4\u8d28\u91cf\u8bc4\u4ef7\uff0c\u5e76\u83b7\u5f97\u201c\u56fd\u5bb6\u9ad8\u65b0\u6280\u672f\u4f01\u4e1a\u201d\u3001\u201c\u5b89\u5fbd\u7701\u6218\u7565\u65b0\u5174\u4ea7\u4e1a\u96c6\u805a\u53d1\u5c55\u57fa\u5730\u201d\u3001\u201c\u5b89\u5fbd\u7701\u9ad8\u5c42\u6b21\u79d1\u6280\u4eba\u624d\u56e2\u961f\u201d\u3001\u201c\u4e2d\u56fd\u9690\u5f62\u72ec\u89d2\u517d500\u5f3a\u201d\u7b49\u591a\u9879\u8363\u8a89\u79f0\u53f7\u3002\u5b89\u9f99\u57fa\u56e0\u5b89\u9f99\u533b\u5b66\u6211\u77e5\u9053\u4f60\u201c\u5728\u770b\u201d\u54df\uff5e","source_url":"https:\/\/www.anlongen.com\/Article\/detail\/id\/177.html","alternate_url":"https:\/\/www.anlongen.com\/Article\/aiFeed\/id\/177.html","updated_at":"2024-05-20T00:00:00+08:00"}}