ABSTRACT
Multiple endocrine neoplasias are autosomal dominant disorders characterized by the occurrence of tumors in at least two endocrine glands. Two MEN syndromes have long been known and are well characterized: the MEN type 1 (MEN1) and type 2 (MEN2). These syndromes are caused by germline mutations in the MEN1 and RET genes, respectively, and have a different tumor spectrum. Recently, a variant of the MEN syndromes arose spontaneously in a rat colony and was named MENX. Affected animals consistently develop multiple endocrine tumors, with a spectrum that shares features with both MEN1 and MEN2 human syndromes. Genetic studies identified a germline mutation in the Cdkn1b gene, encoding the p27 cell cycle inhibitor, as the causative mutation for MENX. Capitalizing on these findings, heterozygous germline mutations in the human homologue, CDKN1B, were searched for and identified in patients with multiple endocrine tumors. As a consequence of this discovery, a novel human MEN syndrome, named MEN4, was recognized, which is caused by mutations in p27. Altogether, these studies identified Cdkn1b/CDKN1B as a novel tumor susceptibility gene for multiple endocrine tumors in both rats and humans. Here we review the characteristics of the MENX and MEN4 syndromes and we briefly address the main function of p27 and how they are affected by MENX/4-associated mutations.
Subject(s)
Animals , Humans , Rats , Adrenal Gland Neoplasms/genetics , /genetics , Germ-Line Mutation/genetics , Mutation , Multiple Endocrine Neoplasia/genetics , Adrenal Gland Neoplasms/pathology , Adrenal Glands/pathology , Hyperplasia , Multiple Endocrine Neoplasia/classification , Multiple Endocrine Neoplasia/pathologyABSTRACT
En este trabajo se presenta el caso de un recién nacido con neoplasia endocrina múltiple, poniéndose énfasis en las diferencias entre los síndromes clásicos y el que ahora se describe. También se comenta la naturaleza de las lesiones proliferativas.
Subject(s)
Humans , Male , Urogenital System/pathology , Neoplasms/congenital , Multiple Endocrine Neoplasia Type 1 , Multiple Endocrine Neoplasia/classification , Infant, NewbornABSTRACT
La adenomatosis endócrina múltiple es un síndrome adquirido por la herencia, y que da lugar a dos variedades importantes: la neoplasia endocrina múltiple tipo I y la Tipo II. Ambos padecimientos tiene una genética y embriológica. Se transmiten como un desorden autosómico dominante con alto grado de penetración, asimismo, derivan de la cresta neural, lo que apoya la teoría de que provienen de una célula progenitora única. La neoplasia endocrina múltiple tipo I, se caracteriza por la presencia conjunta de tumores de las paratiroides, hipófisi s y páncreas. La de tipo II tiene dos variedades: la lla que está formada por carcinoma medular del tiroides, fenocromocitoma e hiperparatiroidismo, y la IIb, que comprende al carcinoma medular del tiroides, feocromocitoma y neuromas mucosos. El cuadro clínico está en relación a la alteración endocrina predominante