Multiple Endocrine Neoplasia Type 1, Type 2A, and Type 2B.
Prim Care
; 51(3): 483-494, 2024 Sep.
Article
en En
| MEDLINE
| ID: mdl-39067973
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Feocromocitoma
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Neoplasias de la Tiroides
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Neoplasia Endocrina Múltiple Tipo 2b
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Neoplasia Endocrina Múltiple Tipo 2a
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Proto-Oncogenes Mas
Límite:
Humans
Idioma:
En
Revista:
Prim Care
Año:
2024
Tipo del documento:
Article