Abstract
Inherited endocrine tumors are neoplasms of endocrine cells, transmitted via autosomal dominant germinal mutations. They present in two different forms: non-syndromic (patient has a single affected endocrine organ during his/her lifetime) or syndromic forms (multiple tumors in endocrine and non-endocrine organs during his/her lifetime).In addition to their common tumoral manifestations, many of these diseases present clinical affection of bone tissues and/or mineral metabolism, both as secondary complications of primary tumors and as primary defects due to genetic mutation. To date, few studies have documented these bone complications, and there are no systematic reviews in this area.We present a revision of medical literature about skeletal and mineral metabolism affections in inherited endocrine tumor syndromes, and studies, in cells and animal models, investigating the direct role of some genes, whose mutations are responsible for the development of endocrine tumors, in the regulation of bone and mineral metabolism.
Highlights
In addition to their common manifestations, almost all inherited endocrine tumor syndromes present features of bone and mineral metabolism, either as secondary complications of primary tumors or as a primary consequence of gene mutation
This paper reviewed skeletal and mineral metabolism complications in hereditary endocrine tumor syndromes, focusing on a description of the in vitro and in animal model studies investigating the direct role of genes, responsible for syndromes, in bone modeling and remodeling and/or in mineral metabolism homeostasis
Multiple Endocrine Neoplasia type 1 MEN1 is characterized by: 1) adenomas of parathyroid/adenomas of parathyroid (affecting over 90% of patients by the age of 50 and causing primary hyperparathyroidism (PHPT), which can be associated with hypercalcemia); 2) adenomas of adenohypophysis; 3) neuroendocrine tumors of gastro-entero-pancreatic tract (GEPNETs) [1]; (Table 1)
Summary
In addition to their common manifestations, almost all inherited endocrine tumor syndromes present features of bone and mineral metabolism, either as secondary complications of primary tumors or as a primary consequence of gene mutation. There are few descriptions of these bone phenotypes in literature, and a review is still missing. This paper reviewed skeletal and mineral metabolism complications in hereditary endocrine tumor syndromes, focusing on a description of the in vitro and in animal model studies investigating the direct role of genes, responsible for syndromes, in bone modeling and remodeling and/or in mineral metabolism homeostasis
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