The RET gene, which codes for a receptor tyrosine kinase, is a proto-oncogene found on chromosome 10. It is the gain of function mutation that causes the clinical manifestations in MEN 2A and 2B.
The disorder has an autosomal dominant inheritance. As a result, people with this condition frequently have a strong family history.
Medullary thyroid carcinoma is a malignant tumor that is poorly differentiated and consists of parafollicular cells, also known as C cells. These cells secrete calcitonin, which lowers the calcium level in the blood. Cases associated with MEN 2 are more common in younger people (30s), while sporadic cases appear much later in life (60s). The tumor is also diffuse and bilateral.
This is a neuroendocrine tumor of the adrenal medulla derived from chromaffin cells that secrete catecholamines. Chromaffin cells develop from neural crest cells. Palpitations, tachycardia, headaches, diaphoresis, and episodic hypertension are common clinical manifestations in both MEN 2 and sporadic forms.
These are benign nerve tissue growths on the mucosal surface. MEN 2B is characterized by the presence of mucosal neuromas on the lips, tongue, and intestinal wall (intestinal ganglioneuromatosis).
Patients with marfanoid body habitus have skeletal deformities, long limbs, arachnodactyly, joint hyperlaxity, and a high-arched palate. It is distinguished from Marfan syndrome by the absence of aortic or lens involvement.
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