{"id":26537,"date":"2021-04-14T12:59:00","date_gmt":"2021-04-14T05:59:00","guid":{"rendered":"https:\/\/www.xinwengao.com\/cn\/pr\/2021041412590026537"},"modified":"2021-04-14T21:41:22","modified_gmt":"2021-04-14T13:41:22","slug":"%e6%b3%9b%e7%94%9f%e5%ad%90%e6%90%ba22%e9%a1%b9%e7%99%8c%e7%97%87%e9%a2%86%e5%9f%9f%e6%96%b0%e7%a0%94%e7%a9%b6%e6%88%90%e6%9e%9c%e4%ba%ae%e7%9b%b82021%e5%b9%b4%e7%be%8e%e5%9b%bd%e7%99%8c%e7%97%87","status":"publish","type":"post","link":"https:\/\/www.xinwengao.com\/cn\/pr\/2021041412590026537","title":{"rendered":"\u6cdb\u751f\u5b50\u643a22\u9879\u764c\u75c7\u9886\u57df\u65b0\u7814\u7a76\u6210\u679c\u4eae\u76f82021\u5e74\u7f8e\u56fd\u764c\u75c7\u7814\u7a76\u534f\u4f1a\u5e74\u4f1a"},"content":{"rendered":"

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\u5317\u4eac2021\u5e744\u670814\u65e5 \/\u7f8e\u901a\u793e\/ — \u8fd1\u65e5\uff0c\u6cdb\u751f\u5b50\uff08\u7eb3\u65af\u8fbe\u514b\u4ee3\u7801\uff1aGTH\uff09\u57282021\u5e74\u7f8e\u56fd\u764c\u75c7\u7814\u7a76\u534f\u4f1a\u5e74\u4f1a\uff08AACR2021\uff09\u53d1\u5e03\u4e8622\u9879\u5168\u65b0\u7814\u7a76\u6210\u679c\u3002\u4f01\u4e1a\u8fd0\u7528RNA\u878d\u5408\u68c0\u6d4b\u3001\u65b0\u578bMSI\u68c0\u6d4b\u751f\u4fe1\u7b97\u6cd5\u6a21\u578b\u3001\u201c\u4e00\u6b65\u6cd5\u201d\u7b49\u521b\u65b0\u6280\u672f\uff0c\u53caOnco PanscanTM<\/sup>\u3001\u8089\u7624\u5168\u4f53\u7cfb\u57fa\u56e0\u68c0\u6d4b\u7b49\u6838\u5fc3\u4ea7\u54c1\uff0c\u643a\u624b13\u5bb6\u56fd\u5185\u9876\u7ea7\u533b\u9662\uff0c\u56f4\u7ed5\u4e2d\u56fd\u4eba\u7fa4\u6df1\u5165\u5206\u6790\u80ba\u764c\u3001\u80a0\u764c\u3001\u80f0\u817a\u764c\u3001\u795e\u7ecf\u7cfb\u7edf\u80bf\u7624\u3001\u80f8\u817a\u764c\u7b49\u591a\u764c\u79cd\u9057\u4f20\u3001\u7a81\u53d8\u3001\u878d\u5408\u7279\u5f81\u5206\u5e03\uff0c\u9a8c\u8bc1\u5e76\u6316\u6398\u591a\u764c\u79cd\u514d\u75ab\u6cbb\u7597\u6807\u5fd7\u7269\u6709\u6548\u6027\uff0c\u4ee5\u53ca\u7f55\u89c1\u6848\u4f8b\u548c\u65b0\u578b\u7597\u6cd5\uff0c\u8fdb\u800c\u4e3a\u764c\u75c7\u7cbe\u51c6\u8bca\u7597\u65b9\u5f0f\u3001\u8bca\u7597\u4ea7\u54c1\u8bbe\u8ba1\u7b49\u63d0\u4f9b\u91cd\u8981\u542f\u793a(\u9644\u7814\u7a76\u5217\u8868)\u3002<\/b><\/p>\n

\u6cdb\u751f\u5b50\u9996\u5e2d\u533b\u7597\u5b98\u80e1\u4e91\u5bcc\u535a\u58eb\u8868\u793a\uff1a\u201c<\/span>\u4f5c\u4e3a\u57fa\u7840\u7814\u7a76\u4e0e\u4e34\u5e8a\u5e94\u7528\u7684\u6865\u6881\uff0c\u6cdb\u751f\u5b50\u59cb\u7ec8\u81f4\u529b\u4e8e\u4e3a\u4e8c\u8005\u5efa\u7acb\u826f\u6027\u4e92\u4fc3\u5173\u7cfb\uff0c\u5168\u529b\u63a8\u52a8\u8f6c\u5316\u533b\u5b66\u53d1\u5c55\u3002\u672c\u6b21\u7814\u7a76\u6210\u679c\uff0c\u57fa\u4e8e\u4f01\u4e1a\u521b\u65b0\u6280\u672f\u53ca\u4ea7\u54c1\uff0c\u52a9\u529b\u591a\u764c\u79cd\u57fa\u56e0\u7ec4\u5b66\u7684\u7279\u5f81\u5206\u6790\u53ca\u6280\u672f\u4f18\u5316\u8def\u7ebf\u63a2\u7d22\uff0c\u5e76\u4e3a\u65b0\u4ea7\u54c1\u8bbe\u8ba1\u63d0\u4f9b\u601d\u8def\u3002\u5982\u5728\u8f6f\u7ec4\u7ec7\u8089\u7624\u9886\u57df\uff0c\u901a\u8fc7RNA\u878d\u5408\u68c0\u6d4b\u6280\u672f\uff0c\u5927\u5e45\u63d0\u9ad8\u878d\u5408\u68c0\u51fa\u7387\uff0c\u4e3a\u66f4\u591a\u8089\u7624\u60a3\u8005\u63d0\u4f9b\u83b7\u76ca\u53ef\u80fd\uff1b\u5728\u9057\u4f20\u6027\u80bf\u7624\u9886\u57df\uff0cLi-Fraumeni\u7efc\u5408\u5f81\u7b5b\u67e5\u65b9\u6cd5\u7684\u63d0\u51fa\u4e5f\u5c06\u63d0\u5347\u8be5\u7c7b\u60a3\u8005\u68c0\u51fa\u7387\uff0c\u4e3a\u5176\u63d0\u4f9b\u66f4\u591a\u5e72\u9884\u673a\u4f1a\uff1b\u5728\u7ed3\u76f4\u80a0\u764c\u9886\u57df\uff0cKMT2C\/2D\u5931\u6d3b\u7a81\u53d8\u7684\u5206\u6790\u4e5f\u5c06\u4e3a\u514d\u75ab\u6cbb\u7597\u9002\u7528\u60a3\u8005\u63d0\u4f9b\u66f4\u591a\u83b7\u76ca\u53ef\u80fd\u3002\u6b64\u5916\uff0c\u7f55\u89c1\u75c5\u4f8b\u6316\u6398\u53ca\u5176\u65b0\u578b\u7597\u6cd5\u7684\u5c1d\u8bd5\uff0c\u5c06\u63a8\u52a8\u8be5\u7c7b\u578b\u60a3\u8005\u7684\u8bca\u7597\u7814\u7a76\u8fdb\u4e00\u6b65\u53d1\u5c55\u3002\u201d<\/span><\/p>\n

\u63a2\u7d22\u6280\u672f\u4f18\u5316\u8def\u7ebf<\/b><\/p>\n

\u4e3a\u6253\u7834DNA-seq\u9488\u5bf9\u68c0\u6d4b\u57fa\u56e0\u878d\u5408\u6240\u5b58\u5728\u7684\u5c40\u9650\u6027\uff0c\u7814\u7a762288\u5bf9\u5e38\u89c4\u6280\u672f\u8fdb\u884c\u4f18\u5316\uff0c\u5728RNA\u5c42\u9762\u5b9e\u73b0\u4e86\u66f4\u7cbe\u51c6\u3001\u9ad8\u6548\u3001\u4f4e\u8017\u7684\u878d\u5408\u57fa\u56e0\u7a81\u53d8\u68c0\u6d4b\uff0c\u5728142\u4eba\u7684\u8f6f\u7ec4\u7ec7\u8089\u7624\u961f\u5217\u4e2d\u8fdb\u884c\u8bc4\u4f30\u53ca\u9a8c\u8bc1\u3002\u7814\u7a76\u663e\u793a\u76f8\u6bd4DNA\u5355\u72ec\u68c0\u6d4b\uff0cDNA+RNA\u7efc\u5408\u68c0\u6d4b\u5bf9\u4e8e\u8f6f\u7ec4\u7ec7\u8089\u7624\u878d\u5408\u7684\u68c0\u51fa\u7387\u63d0\u9ad8\u4e86177%\uff0c\u53ef\u4e3a\u66f4\u591a\u8089\u7624\u60a3\u8005\u63d0\u4f9b\u4e34\u5e8a\u83b7\u76ca\u53ef\u80fd\u3002<\/p>\n

\u7814\u7a762080\u5bf9NGS MSI\u751f\u4fe1\u7b97\u6cd5\u8fdb\u884c\u4e86\u591a\u91cd\u4f18\u5316\uff0c\u5e76\u4e0e\u91d1\u6807\u51c6PCR\u5bf9\u6bd4\uff0c\u57282523\u4f8b\u6cdb\u764c\u79cd\u5927\u6837\u672c\u4e2d\u8fdb\u884c\u9a8c\u8bc1\u3002\u7ed3\u679c\u8868\u660e\uff0c\u4f18\u5316\u540e\u7684\u7b97\u6cd5\u4e0e\u91d1\u6807\u51c6PCR\u68c0\u6d4b\u65b9\u6cd5\u4e00\u81f4\u6027\u8fbe99.9%\u3002\u5176\u4e2dMSI-H\u9633\u6027\u9884\u6d4b\u7387PPV\u4e3a98.73%\uff0cMSS\u9634\u6027\u9884\u6d4b\u7387NPV\u4e3a99.92%\u3002<\/p>\n

\u5173\u6ce8\u9057\u4f20\u6027\u80bf\u7624\u7279\u5f81<\/b><\/p>\n

\u4e24\u9879\u7814\u7a76\uff08#1464\u3001#2557\uff09\u901a\u8fc7\u5bf9\u80da\u7cfb\u7a81\u53d8\u7684\u6df1\u5165\u5206\u6790\uff0c\u4e3aLi-Fraumeni\u7efc\u5408\u5f81\u63d0\u4f9b\u4e86\u7b5b\u67e5\u65b9\u6cd5\uff0c\u63a2\u8ba8\u4e86\u4e2d\u56fd\u4eba\u7fa4\u80f0\u817a\u764c\u60a3\u8005\u9057\u4f20\u7279\u5f81\u53ca\u5177\u4f53\u5206\u5e03\uff0c\u4e3a\u9057\u4f20\u6027\u80bf\u7624\u7b5b\u67e5\u53ca\u8bca\u7597\u63d0\u4f9b\u8bc1\u636e\u53ca\u601d\u8def\u3002<\/p>\n

\u63a2\u7d22\u57fa\u56e0\u7a81\u53d8\u53ca\u878d\u5408\u7279\u5f81<\/b><\/p>\n

\u4e5d\u9879\u7814\u7a76\uff08#2217\u3001#2163\u3001#2223\u3001#2216\u3001#2215\u3001#2313\u3001#2252\u3001#2183\u3001#2182\uff09\u5206\u522b\u5bf9\u8f6f\u7ec4\u7ec7\u8089\u7624\u3001\u9ed1\u8272\u7d20\u7624\u3001\u795e\u7ecf\u5185\u5206\u6ccc\u80bf\u7624\u3001\u975e\u5c0f\u7ec6\u80de\u80ba\u764c\u3001\u80f8\u817a\u764c\u3001\u5c0f\u80a0\u817a\u764c\u3001\u58f6\u8179\u764c\u7b49\u591a\u4e2a\u764c\u79cd\u8fdb\u884c\u7a81\u53d8\u3001\u878d\u5408\u7279\u5f81\u591a\u7ef4\u5ea6\u63a2\u7d22\uff0c\u5bfb\u627e\u6f5c\u5728\u7cbe\u51c6\u6cbb\u7597\u9776\u70b9\u3001\u8010\u836f\u9776\u70b9\u53ca\u6709\u6548\u5e94\u5bf9\u63aa\u65bd\u3002<\/p>\n

\u6316\u6398\u514d\u75ab\u6cbb\u7597\u6807\u5fd7\u7269<\/b><\/p>\n

\u56db\u9879\u7814\u7a76\uff08#1639\u3001#1640\u3001#1641\u3001#1681\uff09\u5206\u522b\u63a2\u8ba8\u4e86KMT2C\/D\u5931\u6d3b\u7a81\u53d8\u3001DDR\u4fe1\u53f7\u901a\u8def\u76f8\u5173\u57fa\u56e0\u53d8\u5f02\u3001ARID1A\u7a81\u53d8\u4ee5\u53caBRCA1\/2\u7a81\u53d8\u5bf9\u6cdb\u764c\u79cd\u514d\u75ab\u6cbb\u7597\u7597\u6548\u7684\u9884\u6d4b\u4f5c\u7528\uff0c\u4e3a\u514d\u75ab\u6cbb\u7597\u63d0\u4f9b\u542f\u793a\u3002<\/p>\n

\u5173\u6ce8\u7f55\u89c1\u6848\u4f8b\u53ca\u65b0\u578b\u7597\u6cd5<\/b><\/p>\n

\u4e94\u9879\u7814\u7a76\uff08#0803\u3001#0422\u3001#1209\u3001#1199\u3001#0625\uff09\u5206\u522b\u5728\u6797\u5947\u7efc\u5408\u5f81\u76f8\u5173\u80ba\u764c\u3001\u8f6c\u79fb\u6027\u9ed1\u8272\u7d20\u7624\u3001\u95f4\u53d8\u6027\u7532\u72b6\u817a\u764c\u3001\u7532\u72b6\u817a\u4e73\u5934\u72b6\u764c\u4ee5\u53ca\u8102\u80aa\u8089\u7624\u60a3\u8005\u4e2d\u68c0\u6d4b\u51fa\u7279\u6b8a\u7684\u5206\u5b50\u5f02\u5e38\u3002\u7814\u7a76\u901a\u8fc7\u5206\u5b50\u68c0\u6d4b\u8f85\u52a9\u60a3\u8005\u8fdb\u884c\u8bca\u65ad\u5206\u578b\uff0c\u4e3a\u60a3\u8005\u91c7\u7528\u65b0\u578b\u7684\u9776\u5411\u6cbb\u7597\u3001\u514d\u75ab\u6cbb\u7597\u65b9\u6848\uff0c\u6700\u7ec8\u4f7f\u60a3\u8005\u6210\u529f\u83b7\u76ca\u3002<\/p>\n

\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
\n

\u7f16\u53f7<\/b><\/span><\/p>\n<\/td>\n

\n

\u9898\u76ee<\/b><\/span><\/p>\n<\/td>\n<\/tr>\n

\n

1464<\/span><\/p>\n<\/td>\n

\n

Enrichment and screening of LFS patients by analyzing TP53 germline mutations of
a Chinese cancer cohort<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2252<\/span><\/p>\n<\/td>\n

\n

Genome profiling of thymic carcinoma identifies putative driver mutations in the NF-
\u03baB signaling pathway<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2557<\/span><\/p>\n<\/td>\n

\n

Germline mutation landscape in a large cohort of Chines pancreatic cancer patients<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

0803<\/span><\/p>\n<\/td>\n

\n

Molecular diagnosis and immunotherapy of a rare lung carcinoma patient associated
with PMS2 c.1144+1G>A mutation-driven Lynch syndrome<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

0422<\/span><\/p>\n<\/td>\n

\n

Sequential targeted therapy and immunotherapy of a BRAF positive metastatic
melanoma patient with BRAF inhibitor vemurafenib, MEK inhibitor cobimetnib and a
novel PD-1 antibody Sintilimab<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2183<\/span><\/p>\n<\/td>\n

\n

Genomic profiling of small bowel adenocarcinoma reveals targetable mutations in
multiple signaling pathways<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2217<\/span><\/p>\n<\/td>\n

\n

More somatic mutations can be detected in cerebrospinal fluid ctDNA of NSCLC
patients with brain metastases<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2182<\/span><\/p>\n<\/td>\n

\n

Evaluation of somatic and germline mutations in ampullary carcinoma reveals
actionable targets in multiple signaling pathways<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

1209<\/span><\/p>\n<\/td>\n

\n

An effective treatment for recurrent and inoperable anaplastic thyroid carcinoma
using sintilimab and anlotinib: a case report<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

1681<\/span><\/p>\n<\/td>\n

\n

Correlation of BRCA1\/2 mutations with response to immune checkpoint inhibitors in
colorectal cancer<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

1641<\/span><\/p>\n<\/td>\n

\n

The predictive values of ARID1A mutations for response to immune checkpoint
inhibitors are varied in different types of solid tumors<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

1639<\/span><\/p>\n<\/td>\n

\n

Correlation of KMT2C\/D loss-of-function mutations with PD-L1 expression and
response to immune checkpoint inhibitors in solid tumors<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

1640<\/span><\/p>\n<\/td>\n

\n

Correlations of DNA damage response gene alterations with response to immune
checkpoint inhibitors are different in solid tumors<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2288<\/span><\/p>\n<\/td>\n

\n

Identification of gene fusions in soft tissue sarcoma improved by integrative DNA
and RNA sequencing<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2163<\/span><\/p>\n<\/td>\n

\n

Molecular characteristics of CDK4 and\/or MDM2 amplification in Chinese soft tissue
sarcoma (STS) patients<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

0625<\/span><\/p>\n<\/td>\n

\n

Co-amplification of CDK4 and MDM2 plus HMGA2 fusion in a patient with myogenic
differentiation dedifferentiated liposarcoma<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2223<\/span><\/p>\n<\/td>\n

\n

Distinct genomic features of cutaneous, acral and mucosal melanomas in a Chinese
retrospective cohort<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2216<\/span><\/p>\n<\/td>\n

\n

Exploration of the genomic features of pan-neuroendocrine tumors in a Chinese
retrospective analysis<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2215<\/span><\/p>\n<\/td>\n

\n

Landscape of RET fusion identified by next\u2013generation sequencing in a Chinese
multi-cancer retrospective analysis<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

1199<\/span><\/p>\n<\/td>\n

\n

Mosaic KRAS G12S mutation associates with poor outcome in papillary thyroid
carcinoma: A case report<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2080<\/span><\/p>\n<\/td>\n

\n

Tumor microsatellite instability detection method using paired tumor-normal
sequence data<\/span><\/p>\n<\/td>\n<\/tr>\n

\n

2313<\/span><\/p>\n<\/td>\n

\n

The characteristics of ERBB2 exon 20 insertion in a large cohort of Chinese NSCLC
patients<\/span><\/p>\n<\/td>\n<\/tr>\n<\/tbody>\n<\/table><\/div>\n

 <\/p>\n

\u5173\u4e8e\u6cdb\u751f\u5b50<\/b><\/p>\n

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\u5b89\u5168\u6e2f\u58f0\u660e<\/b><\/p>\n

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\u76f8\u5173\u94fe\u63a5 :<\/p>\n

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