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Anaplastic thyroid cancer
4%
1/27
Medullary thyroid cancer
81%
22/27
Papillary thyroid cancer
Lymphoma
Follicular thyroid cancer
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This patient with signs of hyperparathyroidism and uncontrolled hypertension likely has Multiple Endocrine Neoplasias (MEN) 2A syndrome. Patients with MEN 2A syndrome have an increased risk for medullary thyroid carcinoma. MEN 2A syndrome, also referred as Sipple's syndrome, is associated with parathyroid hyperplasias, pheochromocytomas, and medullary thyroid carcinoma. Parathyroid hyperplasia leads to hyperparathyroidism and ensuing hypercalcemia, which can lead to calcium oxalate kidney stones (stones), bone pain (bones), constipation (groans) and psychiatric issues. Pheochromocytomas typically present with intermittent bouts of hypertension, headaches, and palpitations. Medullary thyroid carcinoma is a neoplasm of parafollicular C cells, which produce calcitonin. Taniegra reviews the causes, diagnosis, and treatment of hyperparathyroidism. Hyperparathyroidism can be categorized pathophysiologically into primary, secondary, and tertiary hyperparathyroidism. Primary hyperparathyroidism is most often caused by parathyroid adenomas. There are several familial causes of hyperparathyroidism, including MEN type I and type IIA. MEN I typically is characterized by more severe hyperparathyroidism than MEN 2A. Krampitz and Norton the use of personalized medicine targeting the RET proto-oncogene mutations for the diagnosis and treatment of patients with MEN2 syndrome. MEN2 syndrome is an autosomal dominant syndrome that is caused by a mutation in the RET proto-oncogene occurring in 1 in 200,000 live births. There are three variants of MEN 2, which include MEN2A, MEN2B, and familial medullary thyroid carcinoma (FMTC). Genetic testing has advanced the diagnosis of MEN2 and can help guide treatments in patients based on specific biomarkers. Genetic testing is also performed on first-degree relatives of patients hereditary medullary thyroid cancer. Figure A depicts calcium oxalate crystals which are characterized by their envelope shape. Illustration A demonstrates the findings in MEN 1, MEN 2A, and MEN 2B. Incorrect Answers: Answer 1, 3, 4, 5: While these are all possible types of thyroid cancers, only medullary carcinoma is associated with MEN 2 syndrome.
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