Background/objective: Multiple endocrine neoplasia type 1 (MEN1) syndrome results from genetic sequence variations of the tumor suppressor MEN1 gene, which codes for the protein menin. Individuals with MEN1 are prone to developing multiple tumors involving the endocrine and nonendocrine organs. MEN1 associated with liposarcomas has not been documented previously. We highlight a case of MEN1 presenting with a metastatic adrenal liposarcoma.
Case report: A 41-year-old Hispanic man with a history of nephrolithiasis and skin lesions presented to the emergency department with abdominal pain. He was found to have a right adrenal mass measuring 7.9 cm with extension into the liver and primary hyperparathyroidism. He had multiple paternal first-degree relatives with similar skin lesions, hypercalcemia, and tumors of the brain, thoracic cavity, abdomen, and thyroid. The mass was identified as a metastatic pleiomorphic adrenal liposarcoma on surgical pathology. Genetic testing revealed a germline pathogenic sequence variation of the MEN1 gene.
Discussion: Liposarcomas are rare malignant tumors with an annual incidence of 2.5 cases per 1 million. Although lipoma formation is a commonly described manifestation of MEN1, liposarcomas have not been associated with MEN1 previously. A potential mechanism of this association is through the role of menin in inducing adipocyte differentiation via peroxisome proliferator-activated receptor-γ activation, a highly expressed protein in liposarcomas.
Conclusion: Liposarcomas should be included in the differential of MEN1-related tumors.
Keywords: MEN1; MEN1, multiple endocrine neoplasia type 1; PPAR-γ, peroxisome proliferator–activated receptor-γ; adrenal tumor; liposarcoma.
© 2022 Published by Elsevier Inc. on behalf of the AACE.