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Gastrointest Endosc:内镜监测有助于遗传性弥漫性胃癌早期诊断

2014-05-05 佚名 丁香园

目前的临床研究表明,预防性胃切除可有效应用于治疗携带CDH1突变基因的遗传性弥漫性胃癌(HDGC),但是用内窥镜监测遗传性弥漫性胃癌的有效性并不高,因为该病的肿瘤分布十分弥散,内镜检查往往未能发现其微小病变。 因此,英国剑桥大学肿瘤部的Lim教授等进行了一项研究,研究提示接受内窥镜监测的遗传性弥漫性胃癌患者可有助于早期发现微小病变和及时进行预防性胃切除术治疗。文章最近发表在美国的《消化内镜》Ga

目前的临床研究表明,预防性胃切除可有效应用于治疗携带CDH1突变基因的遗传性弥漫性胃癌(HDGC),但是用内窥镜监测遗传性弥漫性胃癌的有效性并不高,因为该病的肿瘤分布十分弥散,内镜检查往往未能发现其微小病变。

因此,英国剑桥大学肿瘤部的Lim教授等进行了一项研究,研究提示接受内窥镜监测的遗传性弥漫性胃癌患者可有助于早期发现微小病变和及时进行预防性胃切除术治疗。文章最近发表在美国的《消化内镜》Gastrointest Endosc杂志上。

该前瞻性队列观察研究在2007年9月至2013年3月29日期间纳入17个家庭的29例遗传性弥漫性胃癌患者。他们共接受了70次的内窥镜检查。检查技术使用到高分辨率白光内镜、自发荧光成像和窄带成像系统,并由一名组织病理学专家对多个随机活检的标本进行是否存在印戒细胞癌的评估。

主要终点指标是内镜收益,即根据病人肿瘤突变状态和后续决定接受手术切除行病理检查而确诊为印戒细胞癌的比例。次要终点指标是额外收益,即针对性活检与随机性活检相比而发现印戒细胞癌的比例。

研究结果显示,22例CDH1胚系突变的胃癌患者中有14例诊断为印戒细胞癌(63.6%),7例没有CDH1胚系突变的胃癌患者中有2例诊断为印戒细胞癌(28.6%)。在平均5.7个月中的随访期间,16例遗传性弥漫性胃癌中有11例(CDH1阳性)患者进行了胃切除术,其中5名患者延迟手术治疗。有1例病人在第一次内窥镜检查后的40.2个月后发展成晚期胃癌。
上述结果提示,有针对性和随机性的白光内镜监测以及结合详细的组织病理学活检可以早期发现遗传性弥漫性胃癌的微小病变和有助于早期进行预防性胃切除术治疗。而自发荧光成像和窄带成像系统的检查效果是有限的。有印戒细胞癌灶的患者延迟预防性胃切除具有高风险,必须仔细权衡。

从该项研究来看,早期发现遗传性弥漫性胃癌的微小病变是提高治疗效果的关键措施。开展内镜筛查与监测,不仅对基因突变携带者,而且对于整个家系,都具有积极的意义。但该项研究的局限性是没有设计对照组,今后应在这方面改进和进一步扩大研究,并在临床推广应用。

遗传相关胃癌在我国的发病情况没有确切的数据,仅有零散的个案报告。除已明确的因素在遗传性胃癌中的作用外,对于大部分病例,其发病原因和机制并未明确。在家族性胃癌研究方面,空白领域甚多,是一个容易被忽视的重要胃癌研究领域。

原始出处

Lim YC1, di Pietro M2, O'Donovan M3, Richardson S4, Debiram I4, Dwerryhouse S5, Hardwick RH5, Tischkowitz M6, Caldas C2, Ragunath K7, Fitzgerald RC2.Prospective cohort study assessing outcomes of patients from families fulfilling criteria for hereditary diffuse gastric cancer undergoing endoscopic surveillance.Gastrointest Endosc. 2014 Jan 25.

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    2014-11-08 许安
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  4. [GetPortalCommentsPageByObjectIdResponse(id=1710709, encodeId=aaeb1e107098c, content=<a href='/topic/show?id=9a1c289680' target=_blank style='color:#2F92EE;'>#AST#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=2896, encryptionId=9a1c289680, topicName=AST)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=8b9831894722, createdName=ms24272190615788285182, createdTime=Tue Nov 18 06:32:00 CST 2014, time=2014-11-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2071533, encodeId=c40f20e153377, content=<a href='/topic/show?id=9d4ee84647' target=_blank style='color:#2F92EE;'>#GAS#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=68, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=7846, encryptionId=9d4ee84647, topicName=GAS)], attachment=null, authenticateStatus=null, createdAvatar=, 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encryptionId=fa761e2916a, topicName=Test)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=aea0290, createdName=lqvr, createdTime=Sun Sep 14 09:32:00 CST 2014, time=2014-09-14, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1859935, encodeId=b24b185993510, content=<a href='/topic/show?id=cc73951054b' target=_blank style='color:#2F92EE;'>#遗传性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=74, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=95105, encryptionId=cc73951054b, topicName=遗传性)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=ad9f79, createdName=般若傻瓜, createdTime=Sun Dec 28 20:32:00 CST 2014, time=2014-12-28, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2042384, encodeId=a8cc204238437, content=<a href='/topic/show?id=39bf9512652' target=_blank style='color:#2F92EE;'>#遗传性弥漫性胃癌#</a>, beContent=null, objectType=article, channel=null, 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href='/topic/show?id=1f4e5946422' target=_blank style='color:#2F92EE;'>#早期诊断#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=76, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=59464, encryptionId=1f4e5946422, topicName=早期诊断)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=30bd35, createdName=一叶知秋, createdTime=Wed May 07 00:32:00 CST 2014, time=2014-05-07, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1438557, encodeId=88a5143855ef7, content=<a href='/topic/show?id=9851500416c' target=_blank style='color:#2F92EE;'>#弥漫性#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=73, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=50041, encryptionId=9851500416c, topicName=弥漫性)], attachment=null, authenticateStatus=null, createdAvatar=https://wx.qlogo.cn/mmopen/aLGWoFXAyMbIu3qymFOyheQLjPSX3OUs5GmkyBlcCOwTPIeq3why9NGibxxUqYo6hcx8qZLHZFgNPnBK1yzWeOFpyg2OnWOt0/0, createdBy=fa4716, createdName=zhouqu_8, createdTime=Wed May 07 00:32:00 CST 2014, time=2014-05-07, status=1, ipAttribution=)]
    2014-09-14 lqvr
  5. 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  6. 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  7. 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  8. 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