Endocrine practice : official journal of the American College of Endocrinology and the American Association of Clinical Endocrinologists · 2026
Analysis of the clinical profile of multiple endocrine neoplasia syndromes and the association with other tumors.
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Pedreira Clarissa C, Olivar-Carreño Karen, Tuli Shubhangi, Blouch Erica, Udler Miriam, Singhal Vibha, Misra Madhusmita
Аннотация
OBJECTIVE: To examine the clinical profile of patients with MEN syndromes and possible associations with tumors less commonly identified in these conditions.
METHODS: We present data from a chart review of 182 patients from our MEN registry. We identified 106 patients with MEN1 and 76 with MEN2 defined by clinical criteria. 45 patients with MEN1 and 69 with MEN2 were genetically confirmed cases.
RESULTS: Among all patients with clinical MEN1, commonly associated tumors included parathyroid (89.6%), pituitary (61.3%), and gastroenteropancreatic neuroendocrine tumors (65.1%). Other tumors included papillary thyroid cancer (5.7%), renal cell carcinoma (4.7%), breast cancer, melanoma, lymphoma (1.9% each), lung cancer, bladder cancer, multiple myeloma and liposarcoma (0.9% each). Among patients with clinical MEN2, commonly associated tumors included medullary thyroid cancer (60.5%), pheochromocytoma (31.6%), and hyperparathyroidism due to parathyroid adenoma or hyperplasia (14.5%). Other tumors included breast cancer (6.6%), lymphoma (2.6%), papillary thyroid cancer (5.3%), non-small cell lung cancer, melanoma, multiple myeloma and glioblastoma multiforme (1.3% each).
CONCLUSION: The study found many tumors not commonly associated with MEN1 and MEN2 syndromes in patients with these conditions. Further investigations are needed to clarify the role of MEN1 and RET mutations in tumorigenesis to aid in early diagnosis, management, and better outcomes.
METHODS: We present data from a chart review of 182 patients from our MEN registry. We identified 106 patients with MEN1 and 76 with MEN2 defined by clinical criteria. 45 patients with MEN1 and 69 with MEN2 were genetically confirmed cases.
RESULTS: Among all patients with clinical MEN1, commonly associated tumors included parathyroid (89.6%), pituitary (61.3%), and gastroenteropancreatic neuroendocrine tumors (65.1%). Other tumors included papillary thyroid cancer (5.7%), renal cell carcinoma (4.7%), breast cancer, melanoma, lymphoma (1.9% each), lung cancer, bladder cancer, multiple myeloma and liposarcoma (0.9% each). Among patients with clinical MEN2, commonly associated tumors included medullary thyroid cancer (60.5%), pheochromocytoma (31.6%), and hyperparathyroidism due to parathyroid adenoma or hyperplasia (14.5%). Other tumors included breast cancer (6.6%), lymphoma (2.6%), papillary thyroid cancer (5.3%), non-small cell lung cancer, melanoma, multiple myeloma and glioblastoma multiforme (1.3% each).
CONCLUSION: The study found many tumors not commonly associated with MEN1 and MEN2 syndromes in patients with these conditions. Further investigations are needed to clarify the role of MEN1 and RET mutations in tumorigenesis to aid in early diagnosis, management, and better outcomes.