Multiple endocrine neoplasia type 1.
Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant hereditary cancer syndrome presented mostly by tumours of the parathyroids, endocrine pancreas and anterior pituitary, and characterised by a very high penetrance and an equal sex distribution. It occurs in approximately one in 30,000 individuals. Two different forms, sporadic and familial, have been described. The sporadic form presents with two of the three principal MEN1-related endocrine tumours (parathyroid adenomas, entero-pancreatic tumours and pituitary tumours) within a single patient, while the familial form consists of a MEN1 case with at least one first degree relative showing one of the endocrine characterising tumours. Other endocrine and non-endocrine lesions, such as adrenal cortical tumours, carcinoids of the bronchi, gastrointestinal tract and thymus, lipomas, angiofibromas, collagenomas have been described. The responsible gene, MEN1, maps on chromosome 11q13 and encodes a 610 aminoacid nuclear protein, menin, with no sequence homology to other known human proteins. MEN1 syndrome is caused by inactivating mutations of the MEN1 tumour suppressor gene. This gene is probably involved in the regulation of several cell functions such as DNA replication and repair and transcriptional machinery. The combination of clinical and genetic investigations, together with the improving of molecular genetics knowledge of the syndrome, helps in the clinical management of patients. Treatment consists of surgery and/or drug therapy, often in association with radiotherapy or chemotherapy. Currently, DNA testing allows the early identification of germline mutations in asymptomatic gene carriers, to whom routine surveillance (regular biochemical and/or radiological screenings to detect the development of MEN1-associated tumours and lesions) is recommended.
Marini
Francesca
F
Regional Center for Hereditary Endocrine Tumours, Department of Internal Medicine, University of Florence, Florence, Italy. f.marini@dmi.unifi.it
Falchetti
Alberto
A
Del Monte
Francesca
F
Carbonell Sala
Silvia
S
Gozzini
Alessia
A
Luzi
Ettore
E
Brandi
Maria Luisa
ML
D000293:Adolescent; D000306:Adrenal Cortex Neoplasms / Q000175:diagnosis; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018322:Angiofibroma / Q000175:diagnosis; D002276:Carcinoid Tumor / Q000175:diagnosis; D002648:Child; D005153:Facial Neoplasms / Q000175:diagnosis; D005260:Female; D015408:Gastrinoma / Q000175:diagnosis; D005820:Genetic Testing / Q000379:methods; D006801:Humans; D007340:Insulinoma / Q000175:diagnosis; D008067:Lipoma / Q000175:diagnosis; D008297:Male; D008579:Meningioma / Q000175:diagnosis; D008875:Middle Aged; D018761:Multiple Endocrine Neoplasia Type 1 / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010190:Pancreatic Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism / Q000628:therapy*; D010282:Parathyroid Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D010911:Pituitary Neoplasms / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D015175:Prolactinoma / Q000175:diagnosis; D011518:Proto-Oncogene Proteins / Q000235:genetics; D013964:Thyroid Neoplasms / Q000175:diagnosis; D014660:Vasoactive Intestinal Peptide / Q000097:blood / Q000378:metabolism; D055815:Young Adult
C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D014660:Vasoactive Intestinal Peptide