scholarly journals The role of non-coding RNAs in the pathogenesis of multiple endocrine neoplasia syndrome type 1

2020 ◽  
Vol 66 (2) ◽  
pp. 4-12
Author(s):  
Elizaveta O. Mamedova ◽  
Diana A. Dimitrova ◽  
Zhanna E. Belaya ◽  
Galina A. Melnichenko
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Endocrine Tumors ◽  
Syndrome Type ◽  
Gene Encoding ◽  
Gastroenteropancreatic Neuroendocrine Tumors ◽  
Men1 Gene ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Syndrome

Changes in the expression of non-coding ribonucleic acids (ncRNAs) takes part in the formation of various tumors. Multiple endocrine neoplasia syndrome type 1 (MEN1) is a rare autosomal dominant disease caused by mutations of the MEN1 gene encoding the Menin protein. Syndrome is characterized by the occurrence of parathyroid tumors, gastroenteropancreatic neuroendocrine tumors, pituitary adenoma, as well as other endocrine and non-endocrine tumors. The mechanisms for the formation of MEN1-related tumors due to mutations in the MEN1 gene are not . In the absence of mutations of the MEN1 gene in patients with phenotypically similar features, this condition is regarded as a phenocopy of this syndrome. The cause of the combination of several MEN-1-related tumors in these patients remains unknown. The possible cause is that changes in the expression of ncRNAs affect the regulation of signaling pathways in which Menin participates and may contribute to the development of MEN-1-related tumors. The identification of even a small number of agents interacting with Menin makes a significant contribution to the improvement of knowledge about its pathophysiological influence and ways of developing tumors within the MEN-1 syndrome and its phenocopies.

scholarly journals Germline MEN1 mutations in sixteen Japanese families with multiple endocrine neoplasia type 1 (MEN1)

1999 ◽  
pp. 475-480 ◽  
Author(s):  
N Hai ◽  
N Aoki ◽  
A Matsuda ◽  
T Mori ◽  
S Kosugi
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Family Members ◽  
Premature Stop Codon ◽  
Germline Mutations ◽  
Endocrine Tumors ◽  
Men1 Gene ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

OBJECTIVE: Multiple endocrine neoplasia type 1 (MEN1) is a syndrome of endocrine tumors involving the parathyroids, anterior pituitary and enteropancreatic neuroendocrine tissues, and is inherited in an autosomal dominant manner. Recently, the gene responsible for this syndrome, MEN1, was positionally cloned in 11q13. We aimed to assess the significance of MEN1 gene diagnostics in families with MEN1. DESIGN: Sixteen probands of familial MEN1 and their 40 family members were subjected to the study. METHODS: Full-length sequencing of the open reading frame and exon-intron boundaries in the MEN1 gene was performed with probands of familial MEN1. Family members were examined for the identified mutation in the proband. RESULTS: We identified heterozygous germline mutations of the MEN1 gene in all of 16 Japanese MEN1 families examined, achieving the highest detectability of MEN1 mutations in familial MEN1 among studies that examined more than 10 families. Eleven kinds of the identified MEN1 germline mutations were novel. More than half were nonsense or frameshift mutations resulting in a premature stop codon (9/15; 60%), and no mutation hot spots or no apparent genotype-phenotype relationships were observed, in support of the results of other studies. We identified 40 mutant MEN1 gene carriers and 16 non-carriers in the course of the present study in those families. CONCLUSIONS: Analysis of the germline mutations in the MEN1 gene, providing significantly useful clinical information to probands and family members of MEN1, should be considered as a standard procedure and categorized as belonging to Group 1 cancer predisposition testing by the American Society of Clinical Oncology.

Optimal extent of initial parathyroid resection in patients with multiple endocrine neoplasia syndrome type 1: A meta-analysis

Surgery ◽  
2020 ◽  
Author(s):  
Constantinos Nastos ◽  
Dimitrios Papaconstantinou ◽  
Efstratios Kofopoulos-Lymperis ◽  
Melpomeni Peppa ◽  
Andreas Pikoulis ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Meta Analysis ◽  
Syndrome Type ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Syndrome

scholarly journals MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia type 1

2000 ◽  
pp. 131-137 ◽  
Author(s):  
A Morelli ◽  
A Falchetti ◽  
V Martineti ◽  
L Becherini ◽  
M Mark ◽  
...  
Keyword(s):  
Dna Markers ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Phenotype Correlation ◽  
Men1 Gene ◽  
Men 1 ◽  
Mutational Screening ◽  
Endocrine Neoplasia ◽  
Sporadic Cases

Multiple endocrine neoplasia type 1 (MEN 1) is a familial syndrome characterized by parathyroid, enteropancreatic and pituitary tumors. The gene responsible for this syndrome is localized at chromosomal 11q13 region and DNA markers from this region cosegregate with the disease. The recent identification of the MEN1 gene, encoding for a protein termed menin of 610 amino acids, allowed mutational screening to be performed both in affected families and sporadic cases. To date many different heterozygous mutations, spreading across all the encoding sequence, have been identified in MEN 1 patients with no apparent mutational hot spots or genotype-phenotype correlation. To analyze the genetic alterations of the MEN1 gene occurring in Italian patients we performed mutational screening by Denaturant Gradient Gel Electrophoresis followed by sequencing of exons 2-10 of the MEN1 gene in 27 Italian MEN 1 families and in five sporadic cases. We identified 17 different heterozygous mutations in 60% of analyzed cases. Twelve of these mutations are novel. Two mutations each occurred twice in unrelated families but no evidence of genotype-phenotype correlation can be established for these families. The extension of genetic diagnosis to asymptomatic family members allowed the identification of 10 MEN1 mutant gene carriers, one newly described and nine previously detected by linkage analysis with DNA markers from the 11q13 region. Our findings add new information to the diversity of mutations occurring in the MEN1 gene and confirm that the mutational screening of MEN 1 is a useful approach to detect individuals at higher risk of developing MEN 1-associated tumors.

scholarly journals The Antral Mucosa as a New Site for Endocrine Tumors in Multiple Endocrine Neoplasia Type 1 and Zollinger-Ellison Syndromes1

2001 ◽  
Vol 86 (5) ◽  
pp. 2236-2242 ◽  
Author(s):  
C. Bordi ◽  
V. D. Corleto ◽  
C. Azzoni ◽  
S. Pizzi ◽  
G. Ferraro ◽  
...  
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Endocrine Cells ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Tumors ◽  
Antral Mucosa ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Zollinger Ellison Syndrome ◽  
Ecl Cell

Carcinoid tumors were identified in the antro-pyloric mucosa of four patients with multiple endocrine neoplasia type 1 (MEN-1)/Zollinger-Ellison syndrome, accounting for 8.7% of 46 patients with this condition examined by endoscopy and histology. In contrast, no tumors were found in the antral biopsies from 124 cases of sporadic Zollinger-Ellison syndrome (P < 0.001), indicating a prominent role for the MEN-1 gene defects in tumor development. Immunohistochemically the tumors did not express the hormones produced by antral endocrine cells (gastrin, somatostatin, serotonin). In contrast, two of them were diffusely immunoreactive for the isoform 2 of the vesicular monoamine transporter (VMAT-2), a marker specific for the gastric nonantral enterochromaffin-like (ECL) cells. In one of these patients a second antral VMAT-2-positive carcinoid was seen 21 months after the first diagnosis. The other two antral carcinoids were unreactive for VMAT-2. Multiple ECL cell tumors were found in the gastric body-fundus mucosa of the two patients with VMAT-2-positive, but not in those with VMAT-2-negative, antral carcinoids. In one case, the former tumors were diagnosed 22 months after the detection of the antral tumor. We conclude that the antral mucosa is an additional tissue that may harbor endocrine tumors in MEN-1 syndrome. These tumors did not express the phenotype of normal antral endocrine cells and, in at least two cases, were identified as ectopic ECL cell carcinoids.

scholarly journals Simultaneous transoral parathyroidectomy and laparoscopic pancreatic resection in type 1 Multiple Endocrine Neoplasia syndrome

2021 ◽  
Vol 26 (4) ◽  
pp. 126-132
Author(s):  
S. E. Gryaznov ◽  
I. M. Buriev ◽  
G. G. Melkonyan ◽  
N. S. Malyuga ◽  
B. K. Laypanov
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Pancreatic Head ◽  
Original Solution ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Syndrome ◽  
Laparoscopic Pancreatic Resection ◽  
Pancreatic Head Tumor

The article presents a clinical observation of a patient with type 1 Multiple Endocrine Neoplasia syndrome (MEN 1). During the diagnostic search, a combination of primary hyperparathyroidism, parathyroid adenoma and hormonally inactive pancreatic head tumor was found. Simultaneous transoral parathyroidectomy and laparoscopic resection of the pancreatic head was performed. We haven`t found the literature data describing such kind of operations for MEN 1 syndrome. An original solution was applied to perform intraoperative ultrasonography monitoring. The results of 1-year postoperative follow-up are presented. This observation demonstrates the possibilities of endoscopic technologies in the treatment of MEN 1 syndrome.

scholarly journals Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database

Endocrine ◽  
2017 ◽  
Vol 58 (2) ◽  
pp. 349-359 ◽  
Author(s):  
Francesca Giusti ◽  
Luisella Cianferotti ◽  
Francesca Boaretto ◽  
Filomena Cetani ◽  
Federica Cioppi ◽  
...  
Keyword(s):  
Data Analysis ◽  
Multiple Endocrine Neoplasia ◽  
Syndrome Type ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Syndrome ◽  
Patient Database
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