MEN1


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MEN1

MEN1

Abbreviation for multiple endocrine neoplasia 1.
References in periodicals archive ?
LOH analysis using microsatellite markers from the MEN1 locus was not feasible because we did not have access to blood samples from the patients.
A genetic study confirmed the clinical suspicion of MEN1. The patient was a heterozygous carrier of the pathogenic change c.1378C>T (p.
However, menin and MLL have also been found to be localized on the promoters of cyclin-dependent kinase inhibitors, [p27.sup.Ktpl] and [p18.sup.Inc4c], and knockout of Men1 or Mll in mouse embryonic fibroblasts results in reduced expression of [p27.sup.Kip1] and [p18.sup.Inc4c] and increased cell proliferation compared to wild-type cells [11].
Type-III ECL-cell NETs occur sporadically in the absence of ECL-cell hyperplasia or dysplasia and are not associated with hypergastrinemia, chronic atrophic gastritis, MEN1, or Zollinger-Ellison syndrome.
Of note, clear cell pancreatic NETs can also occur, although less commonly, in patients with MEN1 syndrome (22); therefore, the finding of a clear cell pancreatic NET should not prompt the pathologist to reflexively suggest the patient be examined for VHL, but should also bring MEN1 to consideration in the differential diagnosis.
Two studies on the methylation status of several candidate tumor suppressor genes have been published to date.120,121 The first analyzed 11 genes in 46 PENs and revealed hypermethylation in the following 8 genes: RASSF1A (75%), P16/INK4A (40%), MGMT (40%), MLH1 (23%), APC (21%), E-cadherin (23%), P73 (17%), and RARB (25%); no methylation was found in TIMP3, P14, and GST.121 The second study also included 46 PENs that were analyzed for 11 genes, 7 of which were common to both reports and showed the following methylation rates: RASSF1A (80%), P16/INK4A (0%), MGMT (17%), MLH1 (0%), APC (48%), E-cadherin (2%), TIMP3 (0%); the remaining 4 genes were MEN1 (19%), HIC-1 (93%), RUNX3 (7%), and PTEN (0%).
In familial cases, AIP and MEN1 should be included in the genetic analysis.
Paratiroid adenomlarinin patogenezinde iki spesifik gen gosterilmistir: siklin D1/PRAD1 onkogen ve MEN1 tumor baskilayici gen (22).
What is multiple endocrine neoplasia type 1 (MEN1)?
The possible existence of a genetic predisposition to both breast cancer and primary hyperparathyroidism was shown in a study of 675 female patients with Multiple Endocrine Neoplasia Type 1 (MEN1); the condition is characterised by parathyroid, pituitary and pancreatic islet cell tumours.
VIPoma and gastrinoma in MEN1, both can present as diarrhoea, thereby making preoperative investigations aimed at diagnosing and localising them an imperative.
Main Genetic Alterations in Pancreatic Tumors Pancreatic Tumor Gene Altered Frequency, % PDAC KRAS 95 TP53 35-40 CDKN2A/p16 95-100 SMAD4 45-60 IPMN KRAS 45-50 GNAS 35-50 MCN KRAS 20-50 GNAS 25-50 PanIN KRAS 70 TP53 20 GNAS 5 SPN CTNNB1 90-100 PAAC APC 50-60 CTNNB1 5-10 TP53 30-40 SCA VHL 40-50 (a) P-NET MEN1 10-30 (b) Abbreviations: IPMN, intraductal papillary mucinous neoplasm; MCN, mucinous cystic neoplasm; PAAC, pancreatic acinic adenocarcinoma; PanIN, pancreatic intraepithelial neoplasia; PDAC, pancreatic ductal adenocarcinoma; P-NET, pancreatic neuroendocrine tumor; SCA, serous cystadenoma; SPN, solid pseudopapillary neoplasm.