Comprehensive Analysis of Clinical Features in Index Cases With Multiple Endocrine Neoplasia Type 1 Refine the Risk Rate for Detection of Mutation Distinguishing Negative-Mutation (Phenocopies) and Positive-Mutation Cases
Abstract:Background: Index cases clinically diagnosed with multiple endocrine neoplasia type 1 (MEN1) are declared as MEN1 phenocopies if no germline MEN1 mutation is identified. In comparison with positive-mutation cases, most phenocopies have been diagnosed in older age, mainly by association of primary hyperparathyroidism (HPT) and pituitary adenoma (PIT), with HPT predominantly diagnosed as uniglandular disease. Besides that, phenocopies rarely develop a third MEN1-related tumor and are associated with lower morbid… Show more
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