Thymoma and Not Just Thymic Carcinoid Can Be Associated With Multiple Endocrine Neoplasia Type 1
Authors: Graf Akua , Welch James , Agarwal Sunita , Cochran Craig , Parekh Vaishali , Simonds William F , Weinstein Lee , Jha Smita , Blau Jenny , Schrump David , del Rivero Jaydira , Mandl Adel 
Published: May 2021

Background: Multiple endocrine neoplasia type 1 (MEN1) is an inherited tumor syndrome with autosomal dominant inheritance. Thymic neuroendocrine tumors (NETs) are known manifestations of MEN1 occurring in 2-8% of patients. However, thymomas, a type of thymic epithelial tumors, have only been described in rare case reports. They markedly differ from thymic NETs in their natural history, morphology, prognosis, and therapeutic options. Here we present a case of an aggressive, recurrent thymoma associated with MEN1.

Case Report: A 58-year-old Caucasian female with a family history of MEN1 was diagnosed with a prolactinoma at age 15 when she presented with irregular menses, galactorrhea, headaches and visual field defects. She was referred to our institution for further evaluation where genetic testing confirmed the diagnosis of MEN1. Throughout the years, she developed primary hyperparathyroidism, non-functional pancreatic neuroendocrine tumors, Zollinger-Ellison syndrome, bilateral adrenal hyperplasia, and bronchial carcinoid. At the age of 49, magnetic resonance imaging (MRI) and computed tomography (CT) scan of the chest incidentally demonstrated a 2.5 x 6 x 10-cm anterior mediastinal mass, with marked compression of the left brachiocephalic vein and encasement of the superior vena cava. Biopsy was consistent for malignant cells of thymic epithelial origin. A median sternotomy with en bloc resection with SVC resection and reconstruction, mediastinal lymph node dissection and placation of the right hemidiaphragm were performed. Pathology revealed WHO type B3 thymoma extending into the pulmonary parenchyma with positive tissue margins but negative lymph node involvement. Following surgery, she underwent adjuvant radiation therapy with a total dose of 59 Gy. Annual screening showed disease remission. However, nine years after initial presentation, surveillance CT scans revealed a pleural base mass with mass effect on the superior portion of the IVC, as well as hypoattenuated masses within the liver. Positron emission tomography with fluorodeoxyglucose (18FDG PET-CT) confirmed multiple metastatic lesions involving thorax and abdomen. Biopsy of the retrocaval soft tissue subxiphoid mass revealed epithelioid cells in a background of lymphocytes consistent with recurrent thymoma. She was subsequently staged as IV B thymoma and was recommended to start systemic chemotherapy.

Conclusion: We described a case of an aggressive thymoma in a patient with MEN1 syndrome demonstrating that their association exists and the clinical presentation can be aggressive. Thus, it is important for practitioners to screen for thymic tumors routinely in patients with MEN1 for early detection as they can be a major cause of mortality. Although further studies are needed, improving the detection of these tumors could significantly contribute to reducing MEN1-related deaths.