5ep9lzv 发表于 2024-5-23 15:00:31

肿瘤会遗传吗——肿瘤相关基因突变与遗传害处评定


    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;"><span style="color: black;">肿瘤会遗传吗？</span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">2013年5月，在<span style="color: black;">发掘</span>自己携带了与乳腺癌、卵巢癌<span style="color: black;">关联</span>的高危基因突变（BRCA1突变）后，37岁的美国著名影星安吉丽娜·朱莉宣布自己<span style="color: black;">已然</span>接受双侧乳腺切除及乳房再造手术以降低<span style="color: black;">病患</span>癌症的<span style="color: black;">危害</span>。两年后，朱莉接受了双侧卵巢及输卵管切除。朱莉的做法<span style="color: black;">导致</span>了<span style="color: black;">公众</span>对基因检测的广泛关注，<span style="color: black;">乃至</span><span style="color: black;">导致</span>了BRCA基因检测热潮，而医学界对她的<span style="color: black;">选取</span>意见不一。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<span style="color: black;">那样</span>，癌症是一种遗传性<span style="color: black;">疾患</span>吗？<span style="color: black;">那些</span>人<span style="color: black;">必须</span>基因检测？<span style="color: black;">怎样</span><span style="color: black;">评定</span>和降低癌症<span style="color: black;">危害</span>？</p><img src="https://mmbiz.qpic.cn/mmbiz_png/jHC9kUxSqh8fAGuyK8JZwPh8sZIjLcDiaRzNwGiafPGaOXDiaX7oyIibO0Xd7qebgiarsUfSvh0w0ddMCNbjSxNBnMw/640?wx_fmt=png?x-oss-process=style/xmorient&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;"><img src="https://mmbiz.qpic.cn/mmbiz_png/ybUrVojblftx2uwMFvSXNKeBWJc4fJk48gvQnwnDicQDQiaLnZCQHFCpBm2ibNdOJ9zUkJygesoe3b5FpvlxRicKAg/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;"><img src="https://mmbiz.qpic.cn/mmbiz_png/xJstnclkIcXsS55grnm3lryFFqF24CJC4yW6qjdm537Lb0M3HlTicJD91IWeAx0kIEJUsvXdiaLpG5DGyIbicWOvg/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">基因突变是什么？和癌症<span style="color: black;">出现</span>有什么关系？</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">基因是含特定遗传信息的核苷酸序列，是<span style="color: black;">掌控</span>生物性状的基本遗传单位。基因突变是一个基因内部结构的改变。人体的基因突变，一部分<span style="color: black;">源自</span>于父母的遗传，<span style="color: black;">更加多</span>的来源于病毒感染、化学物质、射线等多种环境<span style="color: black;">原因</span>。人的<span style="color: black;">一辈子</span>中，机体细胞<span style="color: black;">经过</span><span style="color: black;">持续</span>地分裂维持组织的新陈代谢，而细胞分裂时的核酸复制过程中总<span style="color: black;">伴同</span>着随机性错误，绝大<span style="color: black;">都数</span>都不在<span style="color: black;">重要</span>基因或<span style="color: black;">重要</span>位点上，<span style="color: black;">这般</span>的突变及变异对肿瘤的<span style="color: black;">出现</span>不会产生影响。<span style="color: black;"><strong style="color: blue;">绝大<span style="color: black;">都数</span>癌症属于多基因病</strong></span>，即由多个基因、多个位点和类型的基因变异<span style="color: black;">一起</span><span style="color: black;">引起</span>的肿瘤易感性<span style="color: black;">增多</span>，使人在环境致癌物的刺激下患病。<span style="color: black;">仅有</span><span style="color: black;">少许</span>的基因突变和肿瘤有直接关系，改变组织细胞的生物学特性，<span style="color: black;">引起</span>癌症的<span style="color: black;">出现</span>发展，<span style="color: black;">叫作</span>为<span style="color: black;"><strong style="color: blue;">致病基因突变</strong></span>。</p><img src="https://mmbiz.qpic.cn/mmbiz_png/xJstnclkIcXsS55grnm3lryFFqF24CJC4yW6qjdm537Lb0M3HlTicJD91IWeAx0kIEJUsvXdiaLpG5DGyIbicWOvg/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">癌症会遗传吗？<span style="color: black;">那些</span>人要行遗传<span style="color: black;">危害</span><span style="color: black;">评定</span>？</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<span style="color: black;"><strong style="color: blue;">与癌症<span style="color: black;">关联</span>的基因突变绝大<span style="color: black;">都数</span>为体细胞突变，它们并<span style="color: black;">不可</span>遗传到下一代</strong><strong style="color: blue;">。<span style="color: black;">仅有</span><span style="color: black;">少许</span>癌症<span style="color: black;">关联</span>突变是<span style="color: black;">能够</span>遗传的胚系突变。</strong></span><span style="color: black;">因此呢</span>，尽管临床实践中不少肿瘤<span style="color: black;">病人</span>有家族史，仅有<span style="color: black;"><strong style="color: blue;"><span style="color: black;">少许</span>属于遗传性肿瘤，即<span style="color: black;">因为</span>显性表达的致病基因突变直接<span style="color: black;">导致</span>的家族性肿瘤</strong>。</span>遗传性肿瘤常常<span style="color: black;">拥有</span>早发性、多发性的临床特征。而这部分人群，<span style="color: black;">能够</span><span style="color: black;">经过</span>基因检测等方式进行遗传学<span style="color: black;">危害</span><span style="color: black;">评定</span>，做到肿瘤预防和早诊早治。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">针对</span><span style="color: black;">没</span>癌症个人史但有癌症家族史的个体（尤其是早发癌症、家族中有多名癌症<span style="color: black;">病人</span>），<span style="color: black;">在</span><span style="color: black;"><strong style="color: blue;">积极进行常规癌症筛查</strong></span>的<span style="color: black;">基本</span>上，可<span style="color: black;">思虑</span>进行遗传学咨询，<span style="color: black;"><strong style="color: blue;">酌情进行基因检测<span style="color: black;">评定</span>癌症<span style="color: black;">危害</span></strong></span>。<span style="color: black;">倘若</span>近亲中有已<span style="color: black;">知道</span>携带致病基因突变的癌症<span style="color: black;">病人</span>，则更加有进行相应基因检测的必要。文末<span style="color: black;">咱们</span>列出了<span style="color: black;">有些</span>肿瘤的遗传学<span style="color: black;">评定</span>指征。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">值得<span style="color: black;">重视</span>的是，遗传<span style="color: black;">原因</span>以外的<span style="color: black;">危害</span><span style="color: black;">原因</span><span style="color: black;">亦</span><span style="color: black;">能够</span><span style="color: black;">引起</span>家族聚集性。例如在食管癌高发地区，常常<span style="color: black;">显现</span>家族中多名成员患病，<span style="color: black;">她们</span>中很大部分是<span style="color: black;">由于</span><span style="color: black;"><strong style="color: blue;">生活环境（空气、水源、土壤等）和生活习惯（烟酒等）中的致癌<span style="color: black;">原因</span></strong></span><span style="color: black;">导致</span>。类似的，乙肝病毒属于肝癌的致癌<span style="color: black;">原因</span>，家族性传播的慢性乙肝<span style="color: black;">亦</span>可<span style="color: black;">引起</span>肝癌的家族性聚集。一旦远离或排除了<span style="color: black;">关联</span>致癌<span style="color: black;">原因</span>，<span style="color: black;">病患</span>癌症的几率将大大降低。</p><img src="https://mmbiz.qpic.cn/mmbiz_png/ybUrVojblftx2uwMFvSXNKeBWJc4fJk4kppwib4OQlm3WDeReHUrrjsicbXuEVlfMYyssZqyt1O37FolwgN2BLmg/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">遗传学<span style="color: black;">评定</span>手段之家系分析</p><img src="https://mmbiz.qpic.cn/mmbiz_png/xJstnclkIcXsS55grnm3lryFFqF24CJC4yW6qjdm537Lb0M3HlTicJD91IWeAx0kIEJUsvXdiaLpG5DGyIbicWOvg/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">倘若</span>有与癌症<span style="color: black;">危害</span><span style="color: black;">关联</span>的突变，该怎么做？</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;基因突变决定的不是<span style="color: black;">疾患</span>本身，而是这种<span style="color: black;">疾患</span>的遗传易感性。即使<span style="color: black;">针对</span><span style="color: black;">知道</span>的癌症<span style="color: black;">关联</span>致病基因，不同位点和类型的突变带来的癌症<span style="color: black;">危害</span><span style="color: black;">亦</span>各不相同，携带这些突变并不<span style="color: black;">寓意</span>着<span style="color: black;">必定</span>会得癌症。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<span style="color: black;">通常</span>认为，<span style="color: black;">针对</span>高<span style="color: black;">危害</span>人群采取的预防性<span style="color: black;">办法</span><span style="color: black;">重点</span>是进行<span style="color: black;"><strong style="color: blue;"><span style="color: black;">初期</span>筛查，<span style="color: black;">定时</span>复查，密切观察</strong></span>，以<span style="color: black;">初期</span><span style="color: black;">发掘</span>和切除治愈<span style="color: black;">出现</span>的癌症。<span style="color: black;">同期</span><span style="color: black;">必须</span>更加注意保持健康的生活习惯，<span style="color: black;">尽可能</span>避免致癌物的接触，以减少肿瘤的<span style="color: black;">出现</span>概率。<strong style="color: blue;"><span style="color: black;">对部分遗传肿瘤<span style="color: black;">综合症</span>，<span style="color: black;">能够</span><span style="color: black;">思虑</span>在个体化<span style="color: black;">评定</span>后采取预防性手术<span style="color: black;">办法</span>。</span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; <span style="color: black;">&nbsp;<span style="color: black;">文末<span style="color: black;">咱们</span>还列出了<span style="color: black;">有些</span>遗传性肿瘤<span style="color: black;">综合症</span>的应对<span style="color: black;">意见</span>。<span style="color: black;">触及</span><span style="color: black;">详细</span>的随访监测和诊治<span style="color: black;">办法</span>的医疗<span style="color: black;">意见</span>，请咨询熟悉该遗传<span style="color: black;">疾患</span>的专科<span style="color: black;">大夫</span>。</span></span></p><img src="https://mmbiz.qpic.cn/mmbiz_png/xJstnclkIcXsS55grnm3lryFFqF24CJC4yW6qjdm537Lb0M3HlTicJD91IWeAx0kIEJUsvXdiaLpG5DGyIbicWOvg/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">有<span style="color: black;">那些</span>基因检测？ <span style="color: black;">为么</span>价格差距<span style="color: black;">那样</span>大？</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">临床应用的基因检测<span style="color: black;">重点</span>分为几类：（1）<strong style="color: blue;"><span style="color: black;">特定基因位点的突变检测</span></strong>，如BRCA1/2、BRAF、EGFR、RAS等，<span style="color: black;">一般</span>采用PCR技术完成，价格较低；（2）<strong style="color: blue;"><span style="color: black;">Panel检测</span></strong>，<span style="color: black;">一般</span>基于高通量测序，指<span style="color: black;">根据</span>需求（如肿瘤<span style="color: black;">危害</span>筛查、诊断和分子分型、筛选靶向<span style="color: black;">药品</span>等），对肿瘤<span style="color: black;">关联</span>的多个位点和基因进行<span style="color: black;">选取</span>和组合进行测序，<span style="color: black;">按照</span>panel内<span style="color: black;">包括</span>基因的个数不同（从十几个到数百个），价格差异悬殊；（3）<strong style="color: blue;"><span style="color: black;">全外显子测序/全基因组测序</span></strong>，基于高通量测序，<span style="color: black;">能够</span>检测人<span style="color: black;">身体</span>所有编码蛋白的基因，或是<span style="color: black;">所有</span>基因的改变，价格相对较高。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;为<span style="color: black;">评定</span>肿瘤遗传<span style="color: black;">危害</span>进行的基因检测<span style="color: black;">重点</span>为前两种类型。随着基因检测技术的<span style="color: black;">持续</span>发展，检测成本<span style="color: black;">亦</span>在逐步下降。</p><img src="https://mmbiz.qpic.cn/mmbiz_jpg/ybUrVojblftx2uwMFvSXNKeBWJc4fJk4QGZ59UibUiapeZXd4ASM2ic51SuM8Ox8J87ibsia9CIRY2XZ6OYsrwFqYcg/640?wx_fmt=jpeg&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><strong style="color: blue;">部分遗传性肿瘤<span style="color: black;">综合症</span></strong></p><img src="https://mmbiz.qpic.cn/mmbiz_png/iczDYic4bfBanVTwQeY5wKhThWHCLTtATDhiaHibib9M6tCgWmNSCibmTic3ibz70X90W3YMpVpy257YTk0mJ9ynqb0h1w/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">遗传性结直肠癌</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp;<span style="color: black;"> &nbsp; &nbsp;<span style="color: black;">拥有</span>家族聚集<span style="color: black;">状况</span>的结直肠癌约占所有病例的20%~30%，其中部分结直肠癌发病与<span style="color: black;">科研</span>较<span style="color: black;">知道</span>的遗传<span style="color: black;">综合症</span>直接<span style="color: black;">关联</span>。</span></p><img src="https://mmbiz.qpic.cn/mmbiz_jpg/ybUrVojblftx2uwMFvSXNKeBWJc4fJk4buchLvIKoHCzQGh9IIOUl7ibaTHicUiarWKjQmE0wDwBH0mcpt4vXgwMw/640?wx_fmt=jpeg&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; <span style="color: black;">&nbsp;<span style="color: black;"><strong style="color: blue;">林奇<span style="color: black;">综合症</span></strong></span>又<span style="color: black;">叫作</span>遗传性非息肉病性结直肠癌，占<span style="color: black;">所有</span>结直肠癌的5%-15%。<strong style="color: blue;"><span style="color: black;">错配修复基因（MLH1、MSH2、MSH6和PMS2）突变是<span style="color: black;">重点</span>致病<span style="color: black;">原因</span>，<span style="color: black;">亦</span>是诊断林奇<span style="color: black;">综合症</span>的金标准。</span></strong>其中MLH1/MSH2基因缺陷患癌可能最大，有40%-80%患结肠癌，25%-60%患子宫内膜癌。除结直肠癌以外，林奇<span style="color: black;">综合症</span><span style="color: black;">病人</span><span style="color: black;">亦</span>可<span style="color: black;">出现</span>子宫内膜癌、胃癌、卵巢癌、输尿管和肾盂癌、胆管癌、皮肤癌等肠外恶性肿瘤。NCCN指南<span style="color: black;">举荐</span>所有70岁以下新诊断的大肠癌<span style="color: black;">病人</span>都要进行基因筛查，确诊的<span style="color: black;">病人</span><span style="color: black;">必须</span>进行家系筛查。对携带错配修复基因突变但未发病的<span style="color: black;">病人</span>，除每年行肠镜<span style="color: black;">检测</span>外，<span style="color: black;">亦</span><span style="color: black;">举荐</span>进行子宫内膜癌、卵巢癌、胃癌、尿路上皮癌的筛查。</span></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">&nbsp; &nbsp; &nbsp; <strong style="color: blue;"><span style="color: black;">&nbsp;家族性腺瘤性息肉病（FAP）</span></strong>是一种常染色体显性遗传性<span style="color: black;">疾患</span>。FAP<span style="color: black;">通常</span>自青春期发病，表现为<span style="color: black;">全部</span>结直肠布满<span style="color: black;">体积</span>不一的息肉（腺瘤）。<strong style="color: blue;"><span style="color: black;">如不<span style="color: black;">即时</span>治疗，100%将<span style="color: black;">出现</span>癌变。</span></strong>FAP的发病和APC基因突变直接<span style="color: black;">关联</span>，<span style="color: black;">另外</span>MYH和AXIN2突变<span style="color: black;">亦</span>可能<span style="color: black;">引起</span>FAP。<span style="color: black;">举荐</span>有家族遗传<span style="color: black;">危害</span>但未发病者、已知家族突变史者进行APC基因突变检测。</span></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">&nbsp; &nbsp; &nbsp; &nbsp;<strong style="color: blue;"><span style="color: black;">MUTYH <span style="color: black;">关联</span>性息肉病（MAP）</span></strong>是常染色体隐性遗传<span style="color: black;">综合症</span>，由 MUTYH 基因突变<span style="color: black;">导致</span>。MAP 发病年龄平均在 45~55 岁，到 65 岁发病<span style="color: black;">危害</span>约为 80%。<span style="color: black;">举荐</span>有家族遗传<span style="color: black;">危害</span>但未发病者、已知家族突变史者进行MUTYH基因突变检测。</span></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">遗传性弥漫型胃癌</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;约10%的胃癌<span style="color: black;">病人</span>有家族史，3%的胃癌<span style="color: black;">病人</span>属于遗传性弥漫型胃癌，这一种常染色体显性遗传的<span style="color: black;">综合症</span>，特征是在<span style="color: black;">青春</span>时<span style="color: black;">出现</span>弥漫型胃癌（印戒细胞癌）。约40%的病例中<span style="color: black;">发掘</span>存在<strong style="color: blue;"><span style="color: black;">CDH1基因的胚系突变</span></strong>。携带致病CDH1突变的<span style="color: black;">病人</span>至80岁<span style="color: black;">出现</span>胃癌的<span style="color: black;">危害</span>概率男性预计为67%，女性为83%，诊断胃癌的平均年龄是37岁。<span style="color: black;">另一</span>，携带CDH1突变的女性患小叶型乳腺癌的<span style="color: black;">危害</span>较高。除CDH1突变以外，遗传性弥漫型胃癌<span style="color: black;">亦</span>可有CTNNA1, BRCA2, STK11等突变。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<strong style="color: blue;"><span style="color: black;"><span style="color: black;">没</span>癌症个人史但符合以下任一条目者<span style="color: black;">意见</span>进行遗传性弥漫型胃癌的遗传<span style="color: black;">危害</span><span style="color: black;">评定</span></span></strong>：</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（1）1名近亲中存在已知的胃癌易感基因突变；</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（2）有1名在40岁以前确诊胃癌的一级或二级亲属；</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（3）有2名<span style="color: black;">身患</span>胃癌的一级或二级亲属，其中有1名在50岁前确诊；</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（4）有3名<span style="color: black;">身患</span>胃癌的一级或二级亲属，不论其发病年龄<span style="color: black;">怎样</span>；</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（5）近亲中有一名<span style="color: black;">同期</span>患胃癌和乳腺癌的双原发癌<span style="color: black;">病人</span>，且其中有一种肿瘤是在50岁前确诊的。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<strong style="color: blue;"><span style="color: black;">对致病性CDH1突变携带者，预防性胃切除术是一种<span style="color: black;">选取</span></span></strong>，手术<span style="color: black;">机会</span>和术式应进行个体化<span style="color: black;">评定</span>和充分的知情同意。对不宜手术或拒绝手术者，应每年进行内镜监测。</p><img src="https://mmbiz.qpic.cn/mmbiz_png/ybUrVojblftx2uwMFvSXNKeBWJc4fJk4b5HSpBOwbiaxwa3sKX2MfmJASiaicCakIaLic93bolDEsEqicwBxeGg4BEg/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">遗传性乳腺癌-卵巢癌<span style="color: black;">综合症</span></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;遗传性乳腺癌-卵巢癌<span style="color: black;">综合症</span>约占所有乳腺癌的2~7%，绝大<span style="color: black;">都数</span>与<strong style="color: blue;"><span style="color: black;">BRCA1/2基因突变</span></strong><span style="color: black;">关联</span>。文献<span style="color: black;">报告</span>BRCA1突变携带者在70岁前<span style="color: black;">出现</span>乳腺癌的<span style="color: black;">危害</span>为60%~65%，<span style="color: black;">出现</span>卵巢癌的<span style="color: black;">危害</span>为 40%~60%；BRCA2突变携带者70岁前<span style="color: black;">出现</span>乳腺癌的<span style="color: black;">危害</span>为45%~55%，<span style="color: black;">出现</span>卵巢癌的<span style="color: black;">危害</span>为11%~16.5%。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<strong style="color: blue;"><span style="color: black;">NCCN指南<span style="color: black;">举荐</span><span style="color: black;">没</span>癌症个人史但符合以下任一条目者进行遗传<span style="color: black;">危害</span><span style="color: black;">评定</span></span></strong>：</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（1）近亲有以下任何一种<span style="color: black;">状况</span> ①家族中<span style="color: black;">拥有</span>一种已知的癌症易感基因突变; ②乳腺癌原发灶≥2个; ③父方或母方家庭中≥2位患原发性乳腺癌，<span style="color: black;">况且</span>其中<span style="color: black;">最少</span>有1位的确诊年龄≤50岁; ④卵巢癌; ⑤男性乳腺癌。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（2）一级或二级亲属的乳腺癌诊断年龄≤45 岁。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">（3）个人史和/或家族史中<span style="color: black;">最少</span><span style="color: black;">包含</span>下述3种及以上：乳腺癌、胰腺癌、前列腺癌；黑色素瘤、肉瘤、肾上腺皮质癌、脑肿瘤、白血病、浸润性胃癌、结肠癌、子宫内膜癌；甲状腺癌、肾癌、皮肤症状和/或大头畸形、胃肠道错构瘤性息肉。</p><img src="https://mmbiz.qpic.cn/mmbiz_jpg/ybUrVojblftx2uwMFvSXNKeBWJc4fJk4jbQN5ialLAEHEVA77uibibOI5l2ed5qr0koJra8mA2ck3H4xzz6PFra4Q/640?wx_fmt=jpeg&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<span style="color: black;">针对</span>携带BRCA1/2致病突变的女性，除尽早<span style="color: black;">起始</span><span style="color: black;">定时</span>进行乳房和妇科<span style="color: black;">检测</span>外，可<span style="color: black;">按照</span>突变<span style="color: black;">状况</span>、年龄、生育和<span style="color: black;">大姨妈</span><span style="color: black;">状况</span><span style="color: black;">选取</span>预防性应用内分泌治疗<span style="color: black;">药品</span>、预防性乳房切除术等降低患病<span style="color: black;">危害</span>。<span style="color: black;">思虑</span>到卵巢癌预后不良，<strong style="color: blue;"><span style="color: black;">NCCN指南<span style="color: black;">意见</span>已生育女性进行预防性双侧输卵管—卵巢切除术</span></strong>。对手术预防，应该在术前进行多学科讨论，分析手术利<span style="color: black;">坏处</span>，结合<span style="color: black;">病人</span>需求<span style="color: black;">选取</span>合适的手术<span style="color: black;">机会</span>和方式。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">遗传性甲状腺髓样癌</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;甲状腺髓样癌大约占甲状腺癌的5~10%，而遗传性甲状腺髓样癌占其中的20~25%。<strong style="color: blue;"><span style="color: black;">遗传性甲状腺髓样癌可分为MEN2A型、MEN2B型和家族性<span style="color: black;">没</span>MEN型。它<span style="color: black;">是由于</span><span style="color: black;">RET原癌基因</span>突变<span style="color: black;">导致</span>的常染色体显性<span style="color: black;">综合症</span>。</span></strong>部分MEN2A型病人会伴发肾上腺嗜铬细胞瘤、甲状旁腺功能亢进、皮肤苔藓样淀粉样变性、胃肠道末梢神经节细胞缺失症等<span style="color: black;">疾患</span>。MEN2B型病人发病年龄更早，<span style="color: black;">一般</span>在婴儿或儿童期，恶性程度高，可伴发肾上腺嗜铬细胞瘤、黏膜神经瘤、胃肠道弥漫性神经节瘤及马凡综合征。</p><img src="https://mmbiz.qpic.cn/mmbiz_jpg/ybUrVojblftx2uwMFvSXNKeBWJc4fJk4qY2rlHZJWs3o54bqc3J0ZrBo8ibAndKicUibKZbjKnd02xeKc0HnvE1OA/640?wx_fmt=jpeg&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;">
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;一级亲属中有确诊甲状腺髓样癌且携带RET原癌基因胚系突变者，应进行家系检测和遗传<span style="color: black;">危害</span><span style="color: black;">评定</span>。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">&nbsp; &nbsp; &nbsp; &nbsp;<strong style="color: blue;"><span style="color: black;">对<span style="color: black;">没</span>癌症个人史，RET基因突变阳性<span style="color: black;">病人</span>，可<span style="color: black;">选取</span>行预防性甲状腺切除术</span></strong><strong style="color: blue;"><span style="color: black;">，<span style="color: black;">机会</span><span style="color: black;">通常</span>取决于遗传性RET突变位点的危险性。<span style="color: black;">针对</span><span style="color: black;">危害</span>不高的RET突变<span style="color: black;">病人</span>，只要每年一次的<span style="color: black;">基本</span>降钙素水平正常、每年一次的超声<span style="color: black;">检测</span><span style="color: black;">没</span><span style="color: black;">显著</span><span style="color: black;">反常</span>、家族中<span style="color: black;">无</span>侵袭性甲状腺髓样癌的病史，<span style="color: black;">能够</span>推迟进行预防性甲状腺切除术</span></strong>。<span style="color: black;">另一</span>部分甲状腺髓样癌<span style="color: black;">病人</span>应<span style="color: black;">定时</span>进行嗜铬细胞瘤（MEN 2A和2B）和甲状旁腺功能的筛查（MEN 2A）。</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;"><span style="color: black;">另一</span>还有<span style="color: black;">有些</span>更罕见的遗传性肿瘤，如家族性视网膜母细胞瘤（RB基因突变）、神经纤维瘤病I型（NF1基因突变）、与多种恶性肿瘤<span style="color: black;">相关</span>的Li-Fraumeni <span style="color: black;">综合症</span>（P53基因突变）、和肾癌<span style="color: black;">相关</span>的Von Hippel-Lindau<span style="color: black;">综合症</span>（VHL基因突变）等，本文<span style="color: black;">再也不</span>赘述。<strong style="color: blue;"><span style="color: black;">总之，<span style="color: black;">必须</span>全民<span style="color: black;">创立</span><span style="color: black;">初期</span>筛查和<span style="color: black;">初期</span>预防的<span style="color: black;">认识</span>，以降低<span style="color: black;">初期</span>肿瘤向癌症转变的机率。</span></strong></p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">图文 陈艳妍</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">编辑 娄晓烽</p>
    <p style="font-size: 16px; color: black; line-height: 40px; text-align: left; margin-bottom: 15px;">长按识别二维码，关注“浙大一院肿瘤中心”吧</p><img src="https://mmbiz.qpic.cn/mmbiz_jpg/ybUrVojblftx2uwMFvSXNKeBWJc4fJk43LKHFhM9zlOHZxgU6rNjKKyebxcxSKpW8s7ZYSfkv07h13xkia2xnww/640?wx_fmt=jpeg&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;"><img src="https://mmbiz.qpic.cn/mmbiz_png/hO4b9ZHRTJWA7cGUpnH4icb7giaVC9eRBl7kgNu4hsJaibIhJVymz90ciaBbVAzNczB6G8LezsGga2plMsVsC4CV0w/640?wx_fmt=png&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1&amp;wx_co=1" style="width: 50%; margin-bottom: 20px;"><img src="https://mmbiz.qpic.cn/mmbiz_gif/XbwRKvrkQupgN3s3XuSxJfqrJ4RxaxEJ226fwuj3gyfOTqFntFBRVEty4TT5eLMlEUwzcHNwnGkZEbzPZFoY6A/640?wx_fmt=gif&amp;tp=webp&amp;wxfrom=5&amp;wx_lazy=1" style="width: 50%; margin-bottom: 20px;">




after6266 发表于 2024-9-1 06:38:13

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4lqedz 发表于 2024-9-28 23:55:01

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m5k1umn 发表于 2024-10-10 11:32:13

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wrjc1hod 发表于 2024-11-1 08:26:26

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