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NEJM:粘膜神经瘤-病例报道

2019-07-18 xing.T MedSci原创

2B型多发性内分泌肿瘤是一种以粘膜神经瘤、嗜铬细胞瘤和甲状腺髓样癌为特征的常染色体显性遗传综合征。甲状腺髓样癌的早期诊断对于改善长期预后至关重要; 因此,认识非内分泌表现在这种综合征中很重要。

患者为一名7岁男孩,因舌头多发结实、无痛、生长缓慢的结节3年而到儿科耳鼻喉科诊所就诊。他有轻度发育迟缓的病史,体格检查发现较高的弓形腭和马方综合征样表现。

舌上病变的活组织检查发现为粘膜神经瘤,该患者被怀疑患有2B型多发性内分泌肿瘤。颈部超声显示低回声甲状腺结节,无颈淋巴结肿大。降钙素水平为407ng/L(正常值<6); 肾上腺素的血清水平在正常范围内。没有多发性内分泌肿瘤的家族史。基因检测证实了编码ret原癌基因(RET)存在致病突变。



2B型多发性内分泌肿瘤是一种以粘膜神经瘤、嗜铬细胞瘤和甲状腺髓样癌为特征的常染色体显性遗传综合征。甲状腺髓样癌的早期诊断对于改善长期预后至关重要; 因此,认识非内分泌表现在这种综合征中很重要。

该患儿接受了全甲状腺切除术和双侧颈部解剖探查,发现了三个独立的髓质微小癌灶,没有甲状腺外扩散。在为期9个月的随访中,孩子从手术中恢复良好,并且发育正常。随访结束后,他继续接受常规的临床监测。 
 
原始出处:

Andrew R. Scott,et al.Mucosal Neuromas.N Engl J Med 2019;https://www.nejm.org/doi/full/10.1056/NEJMicm1815549

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    2020-06-06 guoyibin
  2. [GetPortalCommentsPageByObjectIdResponse(id=1691038, encodeId=e6af1691038e0, content=<a href='/topic/show?id=7adce62603e' target=_blank style='color:#2F92EE;'>#粘膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=76260, encryptionId=7adce62603e, topicName=粘膜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=090129165428, createdName=guoyibin, createdTime=Sat Jun 06 04:30:00 CST 2020, time=2020-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2005284, encodeId=fce8200528490, content=<a href='/topic/show?id=4f16e4407b1' target=_blank style='color:#2F92EE;'>#神经瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=74407, encryptionId=4f16e4407b1, topicName=神经瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6732482, createdName=w984445tii, createdTime=Tue Mar 24 04:30:00 CST 2020, time=2020-03-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1034887, encodeId=4c64103488e6d, content=顶刊就是顶刊,谢谢梅斯带来这么高水平的研究报道,我们科里同事经常看梅斯,分享梅斯上的信息, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f0620, createdName=旺医, createdTime=Thu Jul 18 10:30:00 CST 2019, time=2019-07-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=369865, encodeId=f8ad3698650b, content=学习学习很好, beContent=null, objectType=article, channel=null, level=null, likeNumber=81, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKibA62IFMeUJEmSyIe8DvYFeERuOsfrRd8iano7nENqQU1dRR3tqeQOUL3eqgYgEZRT2t2iaEsib0JEw/132, createdBy=66771693911, createdName=易水河, createdTime=Thu Jul 18 08:16:37 CST 2019, time=2019-07-18, status=1, ipAttribution=)]
  3. [GetPortalCommentsPageByObjectIdResponse(id=1691038, encodeId=e6af1691038e0, content=<a href='/topic/show?id=7adce62603e' target=_blank style='color:#2F92EE;'>#粘膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=76260, encryptionId=7adce62603e, topicName=粘膜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=090129165428, createdName=guoyibin, createdTime=Sat Jun 06 04:30:00 CST 2020, time=2020-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2005284, encodeId=fce8200528490, content=<a href='/topic/show?id=4f16e4407b1' target=_blank style='color:#2F92EE;'>#神经瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=74407, encryptionId=4f16e4407b1, topicName=神经瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6732482, createdName=w984445tii, createdTime=Tue Mar 24 04:30:00 CST 2020, time=2020-03-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1034887, encodeId=4c64103488e6d, content=顶刊就是顶刊,谢谢梅斯带来这么高水平的研究报道,我们科里同事经常看梅斯,分享梅斯上的信息, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f0620, createdName=旺医, createdTime=Thu Jul 18 10:30:00 CST 2019, time=2019-07-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=369865, encodeId=f8ad3698650b, content=学习学习很好, beContent=null, objectType=article, channel=null, level=null, likeNumber=81, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKibA62IFMeUJEmSyIe8DvYFeERuOsfrRd8iano7nENqQU1dRR3tqeQOUL3eqgYgEZRT2t2iaEsib0JEw/132, createdBy=66771693911, createdName=易水河, createdTime=Thu Jul 18 08:16:37 CST 2019, time=2019-07-18, status=1, ipAttribution=)]
    2019-07-18 旺医

    顶刊就是顶刊,谢谢梅斯带来这么高水平的研究报道,我们科里同事经常看梅斯,分享梅斯上的信息

    0

  4. [GetPortalCommentsPageByObjectIdResponse(id=1691038, encodeId=e6af1691038e0, content=<a href='/topic/show?id=7adce62603e' target=_blank style='color:#2F92EE;'>#粘膜#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=48, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=76260, encryptionId=7adce62603e, topicName=粘膜)], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=090129165428, createdName=guoyibin, createdTime=Sat Jun 06 04:30:00 CST 2020, time=2020-06-06, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=2005284, encodeId=fce8200528490, content=<a href='/topic/show?id=4f16e4407b1' target=_blank style='color:#2F92EE;'>#神经瘤#</a>, beContent=null, objectType=article, channel=null, level=null, likeNumber=56, replyNumber=0, topicName=null, topicId=null, topicList=[TopicDto(id=74407, encryptionId=4f16e4407b1, topicName=神经瘤)], attachment=null, authenticateStatus=null, createdAvatar=, createdBy=6732482, createdName=w984445tii, createdTime=Tue Mar 24 04:30:00 CST 2020, time=2020-03-24, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=1034887, encodeId=4c64103488e6d, content=顶刊就是顶刊,谢谢梅斯带来这么高水平的研究报道,我们科里同事经常看梅斯,分享梅斯上的信息, beContent=null, objectType=article, channel=null, level=null, likeNumber=67, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=null, createdBy=f0620, createdName=旺医, createdTime=Thu Jul 18 10:30:00 CST 2019, time=2019-07-18, status=1, ipAttribution=), GetPortalCommentsPageByObjectIdResponse(id=369865, encodeId=f8ad3698650b, content=学习学习很好, beContent=null, objectType=article, channel=null, level=null, likeNumber=81, replyNumber=0, topicName=null, topicId=null, topicList=[], attachment=null, authenticateStatus=null, createdAvatar=http://thirdwx.qlogo.cn/mmopen/vi_32/Q0j4TwGTfTKibA62IFMeUJEmSyIe8DvYFeERuOsfrRd8iano7nENqQU1dRR3tqeQOUL3eqgYgEZRT2t2iaEsib0JEw/132, createdBy=66771693911, createdName=易水河, createdTime=Thu Jul 18 08:16:37 CST 2019, time=2019-07-18, status=1, ipAttribution=)]
    2019-07-18 易水河

    学习学习很好

    0

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