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Case Report: MDM4 Amplified in a Thymoma Patient With Autoimmune Enteropathy and Myocarditis

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收录情况： ◇ SCIE

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机构： [1]Capital Med Univ, Beijing Tongren Hosp, Dept Thorac Surg, Beijing, Peoples R China

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关键词： thymoma autoimmune enteropathy autoimmune myocarditis MDM4 whole exome sequencing immunohistochemistry drug sensitivity test

摘要：

Introduction Thymoma is a type of mediastinal malignant tumors which always associated with autoimmune diseases. Although surgery is the predominant treatment method for thymoma, the pathogenesis of thymoma and thymoma-associated autoimmune diseases is still unknown. However, the case study here provided a possible pathogenesis and treatment to cure the thymoma with autoimmune enteropathy and myocarditis. Case presentation A thymoma case with autoimmune enteropathy and myocarditis undergoing surgery was reported. The symptoms and laboratory results of the patient had dramatically fluctuated after tumor resection and gradually alleviated. The whole exome sequencing found MDM4 amplified in tumor cells. Immunohistochemistry indicated that thymoma cells were positive for MDM4. The result of drug sensitivity tests showed thymoma cells were highly sensitive to Nutlin-3a. Conclusion MDM4 could play an important role in the pathogenesis of this thymoma case with autoimmune enteropathy and myocarditis. This discovery may provide a novel idea of pathogenesis and treatment for thymoma and autoimmune diseases.

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出版当年[2020]版：

大类 | 3 区医学

小类 | 3 区内分泌学与代谢

最新[2023]版：

大类 | 2 区医学

小类 | 2 区内分泌学与代谢

JCR分区：

出版当年[2019]版：

Q2 ENDOCRINOLOGY & METABOLISM

最新[2023]版：

Q2 ENDOCRINOLOGY & METABOLISM

影响因子： 3.9 最新[2023版] 4.9 最新五年平均 3.644 出版当年[2019版] 3.986 出版当年五年平均 3.634 出版前一年[2018版] 5.555 出版后一年[2020版]

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第一作者机构： [1]Capital Med Univ, Beijing Tongren Hosp, Dept Thorac Surg, Beijing, Peoples R China

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