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手术切除的胸腺类癌患者中突变的临床意义。

Clinical implication of mutation in surgically resected thymic carcinoid patients.

作者信息

Li Xiongfei, Li Mingbiao, Shi Tao, Liu Renwang, Ren Dian, Yang Fan, Wei Sen, Chen Gang, Chen Jun, Xu Song

机构信息

Department of Lung Cancer Surgery, Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin 300052, China.

Department of Pathology, Lung Cancer Institute, Tianjin Medical University General Hospital, Tianjin 300052, China.

出版信息

J Thorac Dis. 2018 Feb;10(2):E125-E129. doi: 10.21037/jtd.2018.01.127.

Abstract

Thymic carcinoid is a rare but very aggressive neuroendocrine tumour derived from the neuroendocrine system. Here we report a male patient with thymic atypical carcinoid. Though thymic carcinoid is relatively common, the gene sequencing profile was performed and the gene sequencing result indicated germline multiple endocrine neoplasia type 1 (MEN1) mutation and two somatic mutations on gene and no copy number variation or fusion events were detected. It is well-known that the mutation of MEN1 is the typical manifestation of MEN1 syndrome, which is an autosome dominant disease that includes varying combinations of more than 20 endocrine and non-endocrine tumors. In the English literature, 7 cases of solitary thymic carcinoid harboring somatic variants in MEN1 are reported in the absence of other organs involvement as MEN1 syndrome presents. We summarized the clinical features and prognosis of this rare thymic tumor.

摘要

胸腺类癌是一种罕见但极具侵袭性的神经内分泌肿瘤,起源于神经内分泌系统。在此,我们报告一例患有胸腺非典型类癌的男性患者。尽管胸腺类癌相对常见,但我们仍进行了基因测序分析,结果显示该患者存在种系多发性内分泌肿瘤1型(MEN1)突变以及两个基因的体细胞突变,未检测到拷贝数变异或融合事件。众所周知,MEN1突变是MEN1综合征的典型表现,MEN1综合征是一种常染色体显性疾病,包括20多种内分泌和非内分泌肿瘤的不同组合。在英文文献中,报道了7例在未出现MEN1综合征所呈现的其他器官受累情况下,单独的胸腺类癌存在MEN1体细胞变异的病例。我们总结了这种罕见胸腺肿瘤的临床特征和预后情况。

相似文献

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Thymic carcinoids in multiple endocrine neoplasia type 1.1型多发性内分泌肿瘤中的胸腺类癌
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本文引用的文献

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Thymic carcinoid associated with multiple endocrine neoplasia syndrome type I.胸腺癌合并 I 型多发性内分泌肿瘤综合征。
Arch Bronconeumol. 2013 Mar;49(3):122-5. doi: 10.1016/j.arbres.2012.06.002. Epub 2012 Jul 23.
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Simultaneous double thymic carcinoids: a rare initial manifestation of multiple endocrine neoplasia type 1.
Gen Thorac Cardiovasc Surg. 2011 Jan;59(1):68-72. doi: 10.1007/s11748-010-0606-y. Epub 2011 Jan 12.

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