Article
A Novel Double RET E768D/L790F Mutation Associated with a MEN2B-Like Phenotype.
Thyroid : official journal of the American Thyroid Association - 1 Feb 2021
Mathew Annie, Latteyer Soeren, Frank-Raue Karin, Moeller Lars C, Zwanziger Denise, Mengel Manuel, Führer Dagmar, Tiedje Vera
Abstract excerpt
Background: Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant disorder caused by mutations in the RET proto-oncogene. MEN2 is classified into two subtypes, MEN 2A and 2B. MEN2B is characterized by early-onset and aggressive medullary thyroid carcinoma (MTC), pheochromocytoma, and characteristic physical features. Patient Findings: We present a 39-year-old male with early-onset metastatic MTC...
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