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  • • Also known as Wermer syndrome

    • Characterized by tumors of the parathyroid, anterior pituitary, and pancreas

    • Tumors may develop synchronously or metachronously, may be benign or malignant, and may be hyperplasia, adenomas, or carcinoma

    • Pancreatic tumors include functioning and nonfunctioning islet tumors such as gastrinoma, insulinoma, glucagonoma, VIPoma, somatostatinoma, pancreatic polypeptide tumors (PPomas)

    • Other tumors in MEN 1 can include adrenocortical tumors, thymic or bronchial carcinoid tumors, multiple lipomas, cutaneous angiofibromas and collagenomas

    • Syndrome is transmitted as autosomal dominant trait

    • Most common mutation is in the menin gene on 11q13

    • Trait has 100% penetrance but variable expressivity

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Epidemiology

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  • • Syndrome often develops in the third and fourth decade of life

    • Male:female ratio is 1:1

    • No known racial predilection

    • 90-97% of patients have biochemical evidence of hyperparathyroidism

    • 30-80% manifest pancreatic islet cell tumors

    • 15-50% develop pituitary tumors

    • Gastrinomas with MEN 1 account for 20% of all cases of Zollinger-Ellison syndrome

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Symptoms and Signs

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  • • Presentation depends on endocrine tissue involved and the overproduction of a specific hormone; symptoms may arise from tumor mass itself

    • Dyspepsia, abdominal pain, hematemesis

    • Syncope, tremulousness, diaphoresis, confusion, dizziness (hypoglycemia)

    • Symptoms of hypercalcemia, renal stones

    • Headaches, visual field defects, amenorrhea, galactorrhea, hypogonadism, acromegaly (pituitary dysfunction)

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Laboratory Findings

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  • • Elevated serum calcium and intact parathyroid hormone

    • Elevated gastric acid secretion; elevated fasting serum gastrin level

    • Supervised fast with resultant hypoglycemia, elevated serum insulin level, and elevated serum C-peptide level

    • Elevated prolactin level

    • Direct genetic testing generally offered only for probands with definitive evidence of the MEN 1 syndrome; once the mutation is known, then direct genetic testing of at-risk family members is useful

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Imaging Findings

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  • • Gastrinomas and other pancreatic islet cell tumors can be localized with CT scanning, angiography, or somatostatin receptor scintigraphy

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  • • Hyperparathyroidism is due to multiple parathyroid adenomas with 4 gland involvement

    • MEN 1-related hyperparathyroidism occurs earlier in life than nonfamilial primary hyperparathyroidism

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  • • CT scan, angiography, or somatostatin receptor scintigraphy to evaluate for pancreatic islet cell tumors

    • Sestamibi scan, cervical US, CT, or selective venous sampling to evaluate location of abnormality for persistent or recurrent hyperparathyroidism

    • Annual surveillance for adult gene carriers should include:

    • -History and physical exam

      -Calcium and parathyroid hormone measurement for hyperparathyroidism

      -Gastrin, pancreatic polypeptide, abdominal CT scan and somatostatin receptor scintigraphy for pancreatic tumor detection

      -Prolactin level for pituitary adenoma

      -Chest CT scan for thymic carcinoid tumor detection

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  • • Parathyroid disease treated with surgery

    • Treat parathyroid disease first

    • Pituitary tumors may require surgical ablation or irradiation but usually are managed medically

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Surgery

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Indications

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  • • Biochemical evidence of hyperparathyroidism

    • To remove/limit tumor growth of pancreatic tumors (as they are very often ...

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