Multiple Endocrine Neoplasia

What is the difference between MEN1 and MEN2

MEN1 caused by mutation of MEN1 tumor suppressor gene

MEN 2 caused by mutation of RET proto-oncogene

Inheritance pattern of MEN and RET mutation

Autosomal dominant

Common tumors of MEN1

Parathyroid adenoma, pancreatic neuroendocrine tumor, pituitary adenoma

What is the difference between MEN2A and MEN2B

2A has parathyroid hyperplasia, 2B has neuroma + marfanoid habitus

What tumors are found in MEN2

Medullary thyroid carcinoma, pheochromocytoma

Types of pancreatic tumors in MEN1

Insulinoma, vipoma, glucagonoma, gastrinoma = Zollinger Ellison syndrome

Types of pituitary tumors in MEN1

High prolactin or GH, angiofibroma, collagenoma, meningioma

Manifestations of parathyroid adenoma

Hypercalcemia from bone resorption → Kidney stone, bone pain, abdominal complication, altered mental status (Stones, bones, groans and moans)

What is vipoma

Secrete vasointestinal peptide → watery diarrhea

What is facial angiofibroma

Benign tumor made of blood vss and connective tissue → Appear as reddish papule on face

Thyroid medullary cancer affects what cell

Parafollicular or C cells that make calcitonin

Management in Pt with MEN2

Thyroidectomy

Effect of high catecholamine

High BP, headache, palpitation, anxiety and sweating → Potential polycythemia from EPO secretion