[New etiopathogenic, clinical and therapeutic findings in multiple endocrine neoplasia type 1].
Multiple Endocrine Neoplasia type 1 (MEN 1) syndrome comprises tumors or hyperplasia of different glands, including parathyroid, pituitary, adrenal cortex and the gastroenteropancreatic system. The vast majority of MEN 1 are found in familial clusters, although a few cases are sporadic. Hypercalcemia and/or nephrocalcinosis are the first and most common clinical manifestation in familial MEN 1 syndrome, followed by islet cell tumors (especially those secreting gastrin or insulin) and pituitary dysfunction due to either functioning or non-functioning microadenomas. Genetic studies indicate that familial MEN 1 syndrome is inherited through a dominant gene with incomplete penetrance and variable expression. The diagnosis of MEN 1 syndrome is mainly based on the careful assessment of the clinical history, symptoms physical evaluation along with the assay of serum electrolytes (i.e., calcium, phosphorus, etc.) and hormonal substances (i.e., gastrin, insulin, pancreatic polypeptide, prolactin, adrenocorticotropic hormone, etc.). In addition, several provocative tests have been used to identify endocrine tumors (particularly those of the gastroenteropancreatic system) and imaging techniques play a crucial role for the diagnostic approach in MEN 1 syndrome. Even though in the long term, the prognosis of MEN 1 syndrome is unfavourable. Recently, however, many therapeutic strategies, including both surgical and pharmacological options, have been developed to reduce the size of the neoplasm and control symptoms associated with hormone oversecretion.
Tomassetti
P
P
Dipartimento di Medicina Interna e Gastroenterologia, Policlinico Sant'Orsola, Università degli Studi, Bologna.
De Giorgio
R
R
Bosoni
D
D
Del Vecchio
E
E
Migliori
M
M
Stanghellini
V
V
Corinaldesi
R
R
D018931:Antineoplastic Agents, Hormonal / Q000627:therapeutic use; D005260:Female; D015408:Gastrinoma / Q000188:drug therapy / Q000473:pathology / Q000601:surgery*; D006801:Humans; D006961:Hyperparathyroidism; D008297:Male; D018761:Multiple Endocrine Neoplasia Type 1 / Q000188:drug therapy / Q000235:genetics / Q000473:pathology / Q000601:surgery; D015282:Octreotide / Q000627:therapeutic use; D010190:Pancreatic Neoplasms / Q000188:drug therapy / Q000473:pathology / Q000601:surgery*; D010282:Parathyroid Neoplasms / Q000188:drug therapy / Q000473:pathology; D010911:Pituitary Neoplasms / Q000188:drug therapy / Q000473:pathology / Q000601:surgery*; D011379:Prognosis
D018931:Antineoplastic Agents, Hormonal; D015282:Octreotide