Typical tumors in multiple parathyroid gland lesions in a patient with MEN-1 syndrome

Multiple endocrine neoplasia syndrome type 1 (MEN-1) is an inherited disorder associated with mutations in the MEN1 gene and characterized by the «classic triad»: involvement of the parathyroid gland, pancreatic islet cells and anterior pituitary. The penetrance of primary hyperparathyroidism (PHPT) in MEN-1 reaches 90-100% with age. Primary hyperparathyroidism in MEN-1 is associated with polyglandular lesions, and tumors do not always develop synchronously, leading to a high incidence of disease recurrence after surgery. In MEN-1-associated PHPT, hyperplasia is most common and multiple adenomas are less common. The growth of hyperplastic cells may be diffuse, nodular or diffuse-nodular, which complicates the differential diagnosis between adenoma and diffuse-nodular hyperplasia with the presence of a single dominant nodule. Carcinomas and atypical tumors in MEN-1 are casuistically rare. We present the unique case of a young patient with a germline mutation in the MEN1 gene (c.684dup) and clinically «aggressive» course of PHPT due to atypical parathyroid tumors.

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