Case Report: MDM4 Amplified in a Thymoma Patient With Autoimmune Enteropathy and Myocarditis
| Autor: | Fei Li, Zhen Yu, Yu-xuan Jiang, Lei Yu, Xin-tao Yu, Xingguo Yang, Xin Du |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
Pathology medicine.medical_specialty Thymoma Myocarditis drug sensitivity test Endocrinology Diabetes and Metabolism Tumor resection chemical and pharmacologic phenomena Case Report Autoimmune enteropathy Diseases of the endocrine glands. Clinical endocrinology whole exome sequencing Pathogenesis 03 medical and health sciences autoimmune enteropathy MDM4 0302 clinical medicine Endocrinology hemic and lymphatic diseases medicine neoplasms Exome sequencing business.industry thymoma Laboratory results medicine.disease RC648-665 autoimmune myocarditis 030104 developmental biology surgical procedures operative 030220 oncology & carcinogenesis immunohistochemistry Immunohistochemistry business |
| Zdroj: | Frontiers in Endocrinology Frontiers in Endocrinology, Vol 12 (2021) |
| ISSN: | 1664-2392 |
| Popis: | IntroductionThymoma 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 presentationA 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.ConclusionMDM4 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. |
| Databáze: | OpenAIRE |
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