{"id":54902,"date":"2025-04-29T05:24:45","date_gmt":"2025-04-29T09:24:45","guid":{"rendered":"https:\/\/www.erdheim-chester.org\/%e8%bf%bd%e6%ba%af-erdheim-chester-%e7%97%85%e7%9a%84%e8%b5%b7%e6%ba%90\/"},"modified":"2025-08-23T17:14:23","modified_gmt":"2025-08-23T21:14:23","slug":"%e8%bf%bd%e6%ba%af-erdheim-chester-%e7%97%85%e7%9a%84%e8%b5%b7%e6%ba%90","status":"publish","type":"post","link":"https:\/\/www.erdheim-chester.org\/zh-hant\/%e8%bf%bd%e6%ba%af-erdheim-chester-%e7%97%85%e7%9a%84%e8%b5%b7%e6%ba%90\/","title":{"rendered":"\u8ffd\u6eaf Erdheim-Chester \u75c5\u7684\u8d77\u6e90"},"content":{"rendered":"

Erdheim-Chester \u75c5\u5168\u7403\u806f\u76df \uff08ECDGA\uff09 \u5f88\u69ae\u5e78\u80fd\u5920\u652f\u63f4\u524d\u77bb\u6027\u7814\u7a76\uff0c\u8aac\u660e\u63ed\u958b Erdheim-Chester \u75c5 \uff08ECD \u80cc\u5f8c\u7684\u8b0e\u5718\u3002\u6211\u5011\u6700\u5f15\u4eba\u6ce8\u76ee\u7684\u8cc7\u52a9\u5c08\u6848\u4e4b\u4e00\u65bc 2023 \u5e74\u7372\u5f97\u70ba\u671f\u5169\u5e74\u3001200,000 \u7f8e\u5143\u7684\u7814\u7a76\u8cc7\u52a9\uff0c\u7531 Matthew Collin \u535a\u58eb\u8207 Jyoti Nangalia \u535a\u58eb\u548c Eli Diamond \u535a\u58eb\u5408\u4f5c\u9818\u5c0e\u3002\u4ed6\u5011\u7684\u7814\u7a76\u300c\u5f9e\u7cfb\u7d71\u767c\u80b2\u5716\u8b5c\u63a8\u65b7 Erdheim-Chester \u75c5\u7684\u8d77\u6e90\u300d\u70ba<\/em>\u60a3\u8005\u63d0\u51fa\u7684\u4e00\u4e9b\u6700\u5e38\u898b\u548c\u6700\u500b\u4eba\u5316\u7684\u554f\u984c\u63d0\u4f9b\u4e86\u65b0\u7684\u898b\u89e3\uff1a\u6211\u7684\u75be\u75c5\u5f9e\u4f55\u800c\u4f86\uff1f\u6211\u60a3\u75c5\u591a\u4e45\u4e86\uff1f\u5b83\u6703\u4e0d\u6703\u66f4\u65e9\u88ab\u767c\u73fe\uff1f <\/p>\n

\u9019\u500b\u96c4\u5fc3\u52c3\u52c3\u7684\u7814\u7a76\u5c08\u6848\u5c0b\u6c42\u7684\u4e0d\u50c5\u50c5\u662f\u77ad\u89e3 ECD\uff0c\u5b83\u9084\u65e8\u5728\u5c07\u5176\u8ffd\u6eaf\u5230\u4e00\u500b\u4eba\u751f\u547d\u4e2d\u7684\u6700\u65e9\u6642\u523b\u3002<\/p>\n

\u4ec0\u9ebc\u662f\u7cfb\u7d71\u767c\u80b2\u5716\u8b5c\uff1f<\/h3>\n

\u9019\u9805\u7814\u7a76\u7684\u6838\u5fc3\u662f\u4e00\u7a2e\u7a31\u70ba \u7cfb\u7d71\u767c\u80b2\u5716\u8b5c<\/strong>\u7684\u6280\u8853\uff0c\u5b83\u672c\u8cea\u4e0a\u662f\u69cb\u5efa\u8840\u6db2\u5e79\u7d30\u80de\u7684\u201c\u5bb6\u8b5c\u201d\u3002\u8a72\u904e\u7a0b\u5305\u62ec\u5728\u5be6\u9a57\u5ba4\u4e2d\u5f9e\u60a3\u8005\u7684\u9aa8\u9ad3\u4e2d\u57f9\u990a\u55ae\u500b\u5e79\u7d30\u80de\uff0c\u5c0d\u5176\u6574\u500b\u57fa\u56e0\u7d44\u9032\u884c\u6e2c\u5e8f\uff0c\u7136\u5f8c\u8b58\u5225\u5b83\u5011\u4e4b\u9593\u7684\u7d30\u5faeDNA\u5dee\u7570\u3002\u9019\u4e9b\u5fae\u5c0f\u7684\u8b8a\u5316\u4f7f\u7814\u7a76\u4eba\u54e1\u80fd\u5920\u91cd\u5efa\u7d30\u80de\u7684\u8b5c\u7cfb\u548c\u6642\u9593\u7dda\uff0c\u7cbe\u78ba\u5b9a\u4f4d\u7279\u5b9a\u7a81\u8b8a\uff08\u5982\u5c0e\u81f4 ECD \u7684\u7a81\u8b8a\uff09\u767c\u751f\u7684\u6642\u9593\u3002 <\/p>\n

\u9019\u7a2e\u65b9\u6cd5\u4f7f\u79d1\u5b78\u5bb6\u80fd\u5920\u5c0d\u5c0e\u81f4ECD\u7684\u7a81\u8b8a\u9032\u884c\u300c\u65e5\u671f\u6a19\u8a18\u300d<\/em>\uff0c\u4e26\u4f30\u8a08\u9019\u4e9b\u7a81\u8b8a\u5728\u767c\u5c55\u70ba\u75be\u75c5\u4e4b\u524d\u4fdd\u6301\u4f11\u7720\u72c0\u614b\u7684\u6642\u9593\u3002\u5b83\u9084\u5141\u8a31\u4ed6\u5011\u63a2\u7d22\u984d\u5916\u7684\u7a81\u8b8a\u662f\u5426\u6709\u52a9\u65bc\u75be\u75c5\u7684\u6f14\u8b8a\uff0c\u4ee5\u53ca\u54ea\u4e9b\u751f\u7269\u56e0\u7d20\u96a8\u8457\u6642\u9593\u7684\u63a8\u79fb\u5f71\u97ff\u4e86\u9019\u7a2e\u6f14\u8b8a\u3002 <\/p>\n

\u65e9\u671f\u767c\u73fe\uff1a\u5e7e\u5341\u5e74\u4f86\u8ffd\u8e64ECD<\/h3>\n

\u5230\u76ee\u524d\u70ba\u6b62\uff0cCollin \u535a\u58eb\u548c Nangalia \u535a\u58eb\u7684\u5718\u968a\u5df2\u7d93\u7814\u7a76\u4e86\u5169\u540d\u60a3\u6709\u9ad8\u5371\u3001\u591a\u7cfb\u7d71 ECD\/LCH \u7684\u60a3\u8005\u3002\u4ed6\u5011\u7684\u7814\u7a76\u7d50\u679c\u8868\u660e\uff0c\u5728\u9019\u5169\u7a2e\u60c5\u6cc1\u4e0b\uff0c\u5c0e\u81f4 ECD \u7684\u7a81\u8b8a\u53ef\u80fd\u8d77\u6e90 \u65bc\u7665\u72c0\u958b\u59cb\u524d\u5341\u591a\u5e74<\/strong>\u3002\u5169\u540d\u60a3\u8005\u5728 KRAS \u3001 NRAS \u548c BRAF<\/strong> \u7b49\u95dc\u9375\u57fa\u56e0\u4e2d\u540c\u6642\u767c\u751f\u591a\u500b\u7a81\u8b8a\uff0c\u6240\u6709\u9019\u4e9b\u7a81\u8b8a\u90fd\u767c\u751f\u5728\u5176\u7cfb\u7d71\u767c\u80b2\u6a39\u7684\u4e0d\u540c\u5206\u652f\u4e0a\u3002\u6709\u8da3\u7684\u662f\uff0c\u6240\u6709\u9019\u4e9b\u90fd\u662f\u5728 \u96d9\u7b49\u4f4d\u57fa\u56e0 TET2 \u7a81\u8b8a<\/strong>\u7684\u80cc\u666f\u4e0b\u5c55\u958b\u7684\uff0c\u9019\u7a2e\u7a81\u8b8a\u5728\u751f\u547d\u4e2d\u767c\u5c55\u5f97\u8981\u65e9\u5f97\u591a\u3002 <\/p>\n

\u9019\u4e9b\u65e9\u671f\u7d50\u679c\u8868\u660e\uff0c ECD \u96d6\u7136\u7f55\u898b\uff0c\u4f46\u53ef\u80fd\u6703\u4ee5\u985e\u4f3c\u65bc \u9aa8\u9ad3\u589e\u751f\u6027\u816b\u7624<\/strong>\u7684\u65b9\u5f0f\u767c\u5c55\u6578\u5341\u5e74\uff0c\u9aa8\u9ad3\u589e\u751f\u6027\u816b\u7624\u662f\u66f4\u5e38\u898b\u7684\u8840\u764c\u3002\u9019\u4e00\u767c\u73fe\u4e0d\u50c5\u589e\u5f37\u4e86\u6211\u5011\u5c0d ECD \u7684\u7406\u89e3\uff0c\u800c\u4e14\u5c07\u5176\u751f\u7269\u5b78\u8207\u5176\u4ed6\u773e\u6240\u5468\u77e5\u7684\u8840\u6db2\u5b78\u75be\u75c5\u806f\u7e6b\u8d77\u4f86\u3002 <\/p>\n

\u77ad\u89e3\u75be\u75c5\u9032\u5c55<\/h3>\n

\u8a72\u5c08\u6848\u65e8\u5728\u56de\u7b54\u4e09\u500b\u6838\u5fc3\u554f\u984c\uff1a<\/p>\n

    \n
  1. ECD \u9a45\u52d5\u7a81\u8b8a\u4f55\u6642\u767c\u751f\uff0c\u9700\u8981\u591a\u9577\u6642\u9593\u624d\u80fd\u5f15\u8d77\u75be\u75c5\uff1f<\/strong>
    \n\u2013 \u521d\u6b65\u7d50\u679c\u8868\u660e\uff0c\u5728\u7665\u72c0\u51fa\u73fe\u4e4b\u524d\uff0c\u91cd\u5927\u7a81\u8b8a\u53ef\u80fd\u6703\u6f5b\u4f0f\u6578\u5e74\u751a\u81f3\u6578\u5341\u5e74\u3002<\/li>\n
  2. \u50cf BRAFV600E \u9019\u6a23\u7684\u7a81\u8b8a\u5982\u4f55\u8207 TET2 \u7b49\u65e9\u671f\u907a\u50b3\u8b8a\u5316\u76f8\u4e92\u4f5c\u7528\uff1f<\/strong>
    \n\u2013 \u8a72\u5718\u968a\u767c\u73fe MAPK \u901a\u8def\u7684\u7a81\u8b8a\u767c\u751f\u5728 TET2 \u7a81\u8b8a\u7684\u514b\u9686 \u4e2d<\/em> \uff0c\u4f46\u6bcf\u500b\u7a81\u8b8a\u90fd\u7368\u7acb\u904b\u4f5c\u2014\u2014\u6311\u6230\u4e86\u4ee5\u524d\u7684\u5047\u8a2d\u3002<\/li>\n
  3. \u5728\u6c92\u6709\u5df2\u77e5\u57fa\u56e0\u8b8a\u5316\u7684\u60a3\u8005\u4e2d\uff0c\u662f\u5426\u6709\u65b0\u7684\u3001\u672a\u88ab\u767c\u73fe\u7684\u7a81\u8b8a\u6703\u5c0e\u81f4 ECD \uff1f<\/strong>
    \n\u2013 \u96d6\u7136\u5c1a\u672a\u767c\u73fe\u65b0\u7684\u9a45\u52d5\u7a81\u8b8a\uff0c\u4f46\u7814\u7a76\u6b63\u5728\u9032\u884c\u4e2d\u3002<\/li>\n<\/ol>\n

    \u514b\u670d\u6311\u6230\u548c\u4e0b\u4e00\u6b65<\/h3>\n

    \u8a72\u5718\u968a\u9762\u81e8\u7684\u4e00\u500b\u6311\u6230\u662f\u7814\u7a76\u4f4e\u5371\u75be\u75c5\u60a3\u8005\u3002\u5728\u9019\u4e9b\u500b\u9ad4\u4e2d\uff0c\u8840\u6db2\u6216\u9aa8\u9ad3\u4e2d\u5b58\u5728\u7684\u81f4\u75c5\u7a81\u8b8a\u592a\u7a00\u5c11\uff0c\u7121\u6cd5\u57f9\u990a\u51fa\u53ef\u7528\u7684\u5e79\u7d30\u80de\u514b\u9686\u3002\u7136\u800c\uff0c\u6b63\u5728\u63a2\u7d22\u66ff\u4ee3\u7b56\u7565\uff0c\u4f8b\u5982 \u539f\u4ee3\u7bc4\u672c\u64f4\u589e<\/strong> \uff0c\u5118\u7ba1\u6e2c\u5e8f\u932f\u8aa4\u4ecd\u7136\u662f\u4e00\u500b\u6280\u8853\u969c\u7919\u3002 <\/p>\n

    \u5728\u5c08\u6848\u7684\u6700\u5f8c\u968e\u6bb5\uff0cCollin \u535a\u58eb\u7684\u5718\u968a\u5c07\u5b8c\u6210\u4ed6\u5011\u7684\u6578\u64da\u5206\u6790\uff0c\u5411\u4e3b\u8981\u79d1\u5b78\u6703\u8b70\uff08\u5305\u62ec EHA \u548c ECDGA \u7814\u8a0e\u6703\uff09\u63d0\u4ea4\u6458\u8981\uff0c\u4e26\u767c\u8868\u4ed6\u5011\u7684\u767c\u73fe\u3002\u76ee\u6a19\u662f\u5c55\u793a ECD \u662f\u5982\u4f55\u901a\u904e\u4e00\u500b\u7de9\u6162\u800c\u7368\u7279\u7684\u9032\u5316\u904e\u7a0b\u51fa\u73fe\u7684\uff0c\u8a72\u904e\u7a0b\u53ef\u80fd\u8207\u907a\u50b3\u8b8a\u5316\u6709\u95dc\uff0c\u9019\u4e9b\u8b8a\u5316\u53ef\u80fd\u5728\u7665\u72c0\u51fa\u73fe\u524d\u5e7e\u5341\u5e74\u5c31\u958b\u59cb\u4e86\u3002 <\/p>\n

    \u70ba\u4ec0\u9ebc\u9019\u9805\u7814\u7a76\u5f88\u91cd\u8981<\/h3>\n

    \u901a\u904e\u8ffd\u8e64 ECD\u7684\u751f\u7269\u5b78\u53f2\uff0c\u9019\u9805\u7814\u7a76\u53ef\u4ee5\u70ba \u65e9\u671f\u6aa2\u6e2c<\/strong>\u3001 \u500b\u6027\u5316\u6cbb\u7642\u8a08\u5283<\/strong>\u6253\u958b\u5927\u9580\uff0c\u751a\u81f3\u66f4\u597d\u5730\u4e86\u89e3\u70ba\u4ec0\u9ebc\u4e0d\u540c\u60a3\u8005\u7684\u67d0\u4e9b\u5668\u5b98\u6703\u53d7\u5230\u5f71\u97ff\u3002\u7372\u5f97\u7684\u898b\u89e3\u9084\u53ef\u4ee5\u8aac\u660e\u81e8\u5e8a\u91ab\u751f\u8a8d\u8b58\u5230\uff0c\u5118\u7ba1 ECD \u5f88\u5c11\u898b\uff0c\u4f46\u5b83 \u8207\u66f4\u5e38\u898b\u7684\u764c\u75c7\u5171\u7528\u907a\u50b3\u9014\u5f91<\/strong>\uff0c\u9019\u53ef\u80fd\u6703\u901a\u904e\u66f4\u5ee3\u6cdb\u7684\u81e8\u5e8a\u8a8d\u8b58\u4f86\u52a0\u901f\u8a3a\u65b7\u548c\u6cbb\u7642\u3002 <\/p>\n

    \u5728 ECDGA\uff0c\u6211\u5011\u76f8\u4fe1\u8cc7\u52a9\u6539\u8b8a\u751f\u6d3b\u7684\u79d1\u5b78\u3002\u53ea\u6709\u901a\u904e\u50cf Collin \u535a\u58eb\u9019\u6a23\u7684\u7814\u7a76\u4eba\u54e1\u7684\u5949\u737b\u7cbe\u795e\u4ee5\u53ca\u6211\u5011\u7684\u6350\u52a9\u8005\u548c\u5168\u7403\u793e\u5340\u7684\u652f\u63f4\uff0c\u9019\u9805\u958b\u5275\u6027\u7684\u5de5\u4f5c\u624d\u6709\u53ef\u80fd\u5be6\u73fe\u3002 <\/p>\n

    \n

    Erdheim-Chester \u75c5\u5168\u7403\u806f\u76df \uff08ECDGA \u4e0d\u63d0\u4f9b\u91ab\u7642\u5efa\u8b70\u3001\u8a3a\u65b7\u6216\u6cbb\u7642\u3002\u6240\u6709\u5167\u5bb9\u50c5\u4f9b\u53c3\u8003\u3002\u5982\u6709\u91ab\u7642\u554f\u984c\uff0c\u8acb\u8aee\u8a62\u91ab\u7642\u4fdd\u5065\u63d0\u4f9b\u8005\u3002 <\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"

    Erdheim-Chester \u75c5\u5168\u7403\u806f\u76df \uff08ECDGA\uff09 […]<\/p>\n","protected":false},"author":20,"featured_media":48285,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_et_pb_use_builder":"","_et_pb_old_content":"","_et_gb_content_width":"","_wds_title":"","_wds_metadesc":"","_wds_focus-keywords":"","_wds_meta-robots-adv":"","_wds_meta-robots-noindex":false,"_wds_meta-robots-nofollow":false,"_wds_meta-robots-index":false,"_wds_meta-robots-follow":false,"_wds_autolinks-exclude":false,"_wds_canonical":"","_wds_redirect":"","_wds_opengraph":[],"_wds_twitter":[],"cybocfi_hide_featured_image":"","wds_primary_category":0,"footnotes":"","_links_to":"","_links_to_target":""},"categories":[422],"tags":[],"class_list":["post-54902","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-ecdga-"],"_links":{"self":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/posts\/54902","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/users\/20"}],"replies":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/comments?post=54902"}],"version-history":[{"count":0,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/posts\/54902\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/media\/48285"}],"wp:attachment":[{"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/media?parent=54902"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/categories?post=54902"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.erdheim-chester.org\/zh-hant\/wp-json\/wp\/v2\/tags?post=54902"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}