Multiple Neuroendocrine Neoplasia Type 2B: rare clinical presentation associated with mutagenic activity
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Abstract
Multiple Neuroendocrine Neoplasia (MEN) gained notoriety after its initial descriptions, but cases of MEN are extremely rare, especially MEN type 2B, characterized by a clinical presentation involving Medullary Thyroid Carcinoma (MTC), pheochromocytoma, and mutagenic alterations with a focus on the RET proto-oncogene. Surgical intervention stands out as the primary curative treatment, but in cases of metastatic conditions, antityrosine kinase agents (TKI) and radiotherapy may be considered. Due to the scarcity of reported cases associated with MEN Type 2B, we present a detailed case study highlighting the associated mutagenic activity.
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