RET is a tyrosine kinase receptor on chromosome 10. It is an oncogene that develops a gain of function mutation in the MEN2A and MEN2B syndromes.
The disease is passed in an autosomal dominant fashion. Therefore, there is often a significant family history in patients that present with this disease.
Medullary carcinomas of the thyroid are neuroendocrine tumors derived from the C cells, or parafollicular cells of the thyroid and are often seen in MEN 2A and MEN2B syndromes. Cases associated with the MEN syndrome occur in younger persons while sporadic cases develop much later in life. These tumors secrete calcitonin, and altered calcitonin polypeptides can deposit as amyloid, which has a characteristic red stain on Congo dye.
This is a neuroendocrine tumor of the chromaffin cells which secrete catecholamines. This tumor is of neural crest cell origin and is often found in the adrenal medulla. It often presents with the classic triad of intermittent palpitations, headache and diaphoresis.
Patients with marfanoid body habitus display long limbs, arachnodactyly, and hyperlaxity. This type of body habitus is seen in MEN2B, homocystinuria, and Marfan syndrome.
This is a type of mucosal neuroma characteristically found in the GI tract. It is a benign growth of ganglioma cells.
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