Multiple Endocrine Neoplasia Type 2 with Bilateral Malignant Pheochromocytoma and Medullary Thyroid Carcinoma: A Case Report

Jui-Lin Liu ； Cheng-Chung Tsai ； Jenn-Kuen Lee ； Hsin-Ju Cheng ； Chih-Hsun Chu ； Chun-Chin Sun ； Hing-Chung Lam

《Formosan Journal of Endocrinology and Metabolism》 5卷1期 (2014/06) Pp. 27-31

https://doi.org/10.6856/FJEM.201406_5(1).0004

摘要

Background. Multiple endocrine neoplasia (MEN) syndromes are inherited as an autosomal dominant trait and characterized by benign or malignant changes in two or more endocrine organs. The syndromes have two main categories: MEN type 1 with mutations in the MEN1 gene, and MEN type 2 (MEN2) with mutations in RET proto-oncogene (a tumor suppressor gene). Methods. We report the clinical features and imaging findings of a 52-year-old woman with bilateral malignant pheochromocytoma in the context of MEN2 syndrome coincident with medullary thyroid carcinoma. Results. The woman underwent a panendoscopy due to epigastric symptoms. External compression of the gastric fundus was found incidentally. Computed tomography scan of abdomen found a 9.2 cm heterogeneous mass over right adrenal gland and two heterogeneous masses with cysts (9.4 cm and 12.4cm) over left upper abdomen. High levels of serum calcitonin (535 pg/mL) and urine vanillylmandelic acid (227 mg/24 hours) were noted thereafter. The patient then received bilateral adrenectomy. Bilateral malignant pheochromocytoma was diagnosed by pathology. Although the results of thyroid fine needle aspiration were negative in malignancy initially, medullary thyroid carcinoma was diagnosed after a total thyroidectomy. Conclusion. Clinically, there is an association between medullary thyroid cancer and pheochromocytoma. Serum calcitonin and thyroid imaging studies should be performed in all patients with pheochromocytoma, with or without goiter clinically.

關鍵字

multiple endocrine neoplasia type 2a ； pheochromocytoma ； medullary thyroid carcinoma