Multiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 39067973.
- Also identified by DOI 10.1016/j.pop.2024.03.006.
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Abstract
Multiple endocrine neoplasia type 1 is a rare genetic neuroendocrine syndrome caused by over 1500 different germline mutations. It can cause 20 different endocrine tumors affecting primarily the parathyroid glands, gastroenteropancreatic tract, and the anterior pituitary gland. Multiple endocrine neoplasia type 2A (MEN2A) and Multiple endocrine neoplasia type 2B (MEN2B) are autosomal dominant genetic syndromes because of a germline variant in the 'rearranged during transfection' (RET) proto-oncogene. There are common RET mutations causing receptor hyperactivation and induction of downstream signals that cause oncogenesis. Common conditions with MEN2A are medullary thyroid cancer (MTC), pheochromocytoma, and primary hyperparathyroidism. Common conditions with MEN2B include MTC, pheochromocytomas, and benign ganglioneuromas.
Medical subject headings
- Proto-Oncogene Mas
- Multiple Endocrine Neoplasia Type 2a
- Multiple Endocrine Neoplasia Type 2b
- Thyroid Neoplasms
- Pheochromocytoma