Overview of the Updated Evidence of Multiple Endocrinal Neoplasia (MEN) in Children and Adolescents

2021 ◽  
pp. 77-84
Author(s):  
Laila Ahmed Albishi ◽  
Nazim Faisal Hamed ◽  
Naif Mutkhan Alsharari ◽  
Wurud Muteb D. Alshammari
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Malignant Tumors ◽  
Genetic Alterations ◽  
Endocrine Glands ◽  
Inherited Disorders ◽  
Men 1 ◽  
Men 2 ◽  
Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Syndrome ◽  
Dominant Disease

MEN syndromes are a collection of autosomal dominant disease including MEN 1 and MEN 2. Multiple endocrine neoplasia (MEN) syndromes are infrequent inherited disorders in which more than one endocrine glands develop noncancerous (benign) or cancerous (malignant) tumors or grow excessively without forming tumors. There are 3 famous and well-known forms of MEN syndromes (MEN 1, MEN 2A, and MEN 2B) and a newly documented one (MEN4). These syndromes are infrequent and occurred in all ages and both men and women. MEN1 is the most often happening form of MENs. The information of MEN’s genetic alterations and the connection among genotype and phenotype could be beneficial for MEN disease management. (MEN1) implicated IN primarily by tumors of the parathyroid glands, endocrine gastroenteropancreatic (GEP) tract and anterior pituitary. Before MEN-1 can be diagnosed it must be suspected, genetic screening for MEN-1 is recommended when an individual has 2 or more MEN-1 related tumors, MEN2 associates with medullary thyroid carcinoma, pheochromocytoma, and primaryhype- rparathyroidism. MEN2A and MEN2B should be suspected in any patient diagnosed with MTC or pheochromocytoma, particularly when the age of presentation is very young (younger than 35), the genetic testing for RET proto-oncogene is employed to diagnose and identify a specific type of mutation present. Treatment is mainly surgical in most cases of multiple endocrine neoplasia syndrome.

scholarly journals Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives

2018 ◽  
Vol 13 ◽  
pp. 117727191878512 ◽  
Author(s):  
Fatemeh Khatami ◽  
Seyed Mohammad Tavangar
Keyword(s):  
Multiple Endocrine Neoplasia ◽  
Germ Line ◽  
Malignant Tumors ◽  
Parathyroid Glands ◽  
Inherited Disorders ◽  
Men 1 ◽  
Men 2 ◽  
Endocrine Neoplasia ◽  
Men 2B ◽  
Men 2A

Multiple endocrine neoplasia (MEN) syndromes are infrequent inherited disorders in which more than one endocrine glands develop noncancerous (benign) or cancerous (malignant) tumors or grow excessively without forming tumors. There are 3 famous and well-known forms of MEN syndromes (MEN 1, MEN 2A, and MEN 2B) and a newly documented one (MEN4). These syndromes are infrequent and occurred in all ages and both men and women. Usually, germ line mutations that can be resulted in neoplastic transformation of anterior pituitary, parathyroid glands, and pancreatic islets in addition to gastrointestinal tract can be an indicator for MEN1. The medullary thyroid cancer (MTC) in association with pheochromocytoma and/or multiple lesions of parathyroid glands with hyperparathyroidism can be pointer of MEN2 which can be subgrouped into the MEN 2A, MEN 2B, and familial MTC syndromes. There are no distinct biochemical markers that allow identification of familial versus nonfamilial forms of the tumors, but familial MTC usually happens at a younger age than sporadic MTC. The MEN1 gene (menin protein) is in charge of MEN 1 disease, CDNK1B for MEN 4, and RET proto-oncogene for MEN 2. The focus over the molecular targets can bring some hope for both diagnosis and management of MEN syndromes. In the current review, we look at this disease and responsible genes and their cell signaling pathway involved.

Multiple endocrine neoplasia type 1

2011 ◽  
pp. 945-950
Author(s):  
R.V. Thakker
Keyword(s):  
Family History ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Glands ◽  
Men 1 ◽  
Men 2 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

Multiple endocrine neoplasia (1, 2) is characterized by the occurrence of tumours involving two or more endocrine glands within a single patient. The disorder has previously been referred to as multiple endocrine adenopathy (MEA) or the pluriglandular syndrome. However, glandular hyperplasia and malignancy may also occur in some patients and the term multiple endocrine neoplasia (MEN) is now preferred. There are two major forms of multiple endocrine neoplasia, referred to as type 1 and type 2, and each form is characterized by the development of tumours within specific endocrine glands (Table 6.11.1). Thus, the combined occurrence of tumours of the parathyroid glands, the pancreatic islet cells, and the anterior pituitary is characteristic of multiple endocrine neoplasia type 1 (MEN 1), which is also referred to as Wermer’s syndrome. However, in multiple endocrine neoplasia type 2 (MEN 2), which is also called Sipple’s syndrome, medullary thyroid carcinoma (MTC) occurs in association with phaeochromocytoma, and three clinical variants, referred to as MEN 2a, MEN 2b and MTC-only, are recognized (Table 6.11.1). Although MEN 1 and MEN 2 usually occur as distinct and separate syndromes as outlined above, some patients occasionally may develop tumours that are associated with both MEN 1 and MEN 2. For example, patients suffering from islet cell tumours of the pancreas and phaeochromocytomas or from acromegaly and phaeochromocytoma have been described, and these patients may represent ‘overlap’ syndromes. All these forms of MEN may either be inherited as autosomal dominant syndromes or they may occur sporadically, i.e. without a family history. However, this distinction between sporadic and familial cases may sometimes be difficult as in some sporadic cases the family history may be absent because the parent with the disease may have died before developing symptoms. In this chapter, the main clinical features and molecular genetics of the MEN 1 syndrome will be discussed.

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 Clinical case: multiple endocrine neoplasia type 1 (MEN 1)

2012 ◽  
Vol 9 (4) ◽  
pp. 44-47
Author(s):  
A K Lipatenkova ◽  
L K Dzeranova ◽  
E A Pigarova ◽  
L Ya Rozhinskaya ◽  
A V Kochatkov
Keyword(s):  
Dopamine Agonists ◽  
Multiple Endocrine Neoplasia ◽  
Clinical Case ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Disorders ◽  
Endocrine Glands ◽  
Endocrine Neoplasia ◽  
Endocrine Organs ◽  
Multiple Endocrine Neoplasia Syndrome

Multiple endocrine neoplasia syndrome type 1 (MEN1, Wermer syndrome) – group o а heterogeneous inherited deseases, caused by hyperlasia or neoplasia of several endocrine glands. The phenotype of MEN1 is broad, and over 20 different combinations of endocrine and non-endocrine metabolic manifestations have been described. This case demonstrates multiple formations of endocrine organs, starting non-classical with macroprolactonoma resistant to dopamine agonists therapy, other endocrine disorders developed gradually eventually: hyperparathyreoidism and hypoglycemia caused by pancreas lesions, produced proinsulin in high levels.

scholarly journals Morphological characteristics of pituitary adenomas in the phenocopy of multiple endocrine neoplasia type 1

2021 ◽  
Vol 67 (6) ◽  
pp. 50-58
Author(s):  
D. A. Trukhina ◽  
E. O. Mamedova ◽  
A. M. Lapshina ◽  
E. V. Vasilyev ◽  
A. N. Tiulpakov ◽  
...  
Keyword(s):  
Pituitary Adenomas ◽  
Multiple Endocrine Neoplasia ◽  
Multiple Endocrine Neoplasia Type ◽  
Endocrine Glands ◽  
Cytoplasmic Expression ◽  
Men1 Gene ◽  
Men 1 ◽  
Endocrine Neoplasia ◽  
Endocrine Neoplasia Type

BACKGROUND: Multiple endocrine neoplasia type 1 (MEN 1) is a rare autosomal dominant disorder caused by mutations in the MEN1 gene, which encodes the menin protein. If a patient has the MEN 1 phenotype in the absence of mutations in the MEN1 gene, the condition is classified as a phenocopy of this syndrome. Although significant progress has been made in understanding the function of menin, its role in the oncogenesis of the endocrine glands is still being elucidated. Due to its key role in physiological and pathological processes, the assessment of the menin expression can provide valuable information.AIM: to determine whether there are any differences in the expression of menin in the pituitary adenomas (PA) in patients with phenocopy of MEN 1 (phMEN 1) and genetically confirmed MEN 1 (gMEN 1) compared with their sporadic forms.MATERIALS AND METHODS: immunohistochemical assessment of the menin expression was carried out in PA of patients with gMEN 1, phMEN 1 and sporadic acromegaly (SA), surgically treated in 2008–2020. IHC was performed using antibodies to menin, PRL, GH, ACTH, FSH, TSH, Pit-1, T-box, ERA on previously prepared histological section.RESULTS: The study included 35 samples of PA: gMEN 1 — 9 samples, phMEN 1 — 12 (somatotropinomas + PHPT); CA — 14  samples. The patients were comparable by gender, adenoma size, and drug intake. The gMEN  1 group differed from phMEN 1 and SA by age (p = 0.0005). In patients with gMEN 1, the expression of menin varied from no staining (5/9) to intense cytoplasm staining. Cytoplasmic expression of menin was mainly present (11/12) in the phMEN 1. In the SA group, there was no staining in 1 case; nuclear expression was detected in 6/14 cases. The phMEN  1 group showed significantly higher cytoplasmic expression of menin than the gMEN  1 group (p = 0.006). The gMEN 1 group also differed from the SA group (p = 0.012). There were no statistically significant differences between the phMEN 1 and SA groups (p = 0.049).CONCLUSION: It was revealed that the menin expression, in general, is retained in phMEN 1 and SA groups, although with different localization in the cell structure (nucleus and / or cytoplasm). At the same time, the expression of menin varies greatly in patients with gMEN 1. According to the data obtained, it can be assumed that the pathogenesis of PA in phMEN 1 and SA may have similarities; however, there could be factors contributing to the appearance of several tumors of the endocrine glands in one person with phMEN 1. To understand this process, it is necessary to further study the genes associated with MEN 1, epigenetic factors, signaling pathways in which menin is involved.

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 Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2

2012 ◽  
Vol 2012 ◽  
pp. 1-15 ◽  
Author(s):  
C. Romei ◽  
E. Pardi ◽  
F. Cetani ◽  
R. Elisei
Keyword(s):  
Clinical Features ◽  
Multiple Endocrine Neoplasia ◽  
Clinical Course ◽  
Parathyroid Glands ◽  
Phenotype Correlation ◽  
Men 1 ◽  
Men 2 ◽  
Endocrine Neoplasia ◽  
Men 2B ◽  
Men 2A

Multiple endocrine neoplasia (MEN) are clinical inherited syndromes affecting different endocrine glands. Three different patterns of MEN syndromes can occur (MEN 1, MEN 2A, and MEN 2B). MEN syndromes are very rare, affect all ages and both sexes are equally affected. MEN 1 is characterized by the neoplastic transformation of the parathyroid glands, pancreatic islets, anterior pituitary, and gastrointestinal tract. HeterozygousMEN 1germline mutations have been detected in about 70–80% of patients with MEN 1. The mutations are scattered throughout the entire genomic sequence of the gene. MEN 1 patients are characterized by variable clinical features, thus suggesting the lack of a genotype-phenotype correlation. Therapeutical approaches are different according to the different endocrinopathies. The prognosis is generally good if adequate treatment is provided. In MEN 2 syndromes, the medullary thyroid cancer (MTC) is almost invariably present and can be associated with pheochromocytoma (PHEO) and/or multiple adenomatosis of parathyroid glands with hyperparathyroidism (PHPT). The different combination of the endocrine neoplasia gives origin to 3 syndromes: MEN 2A, MEN 2B, and FMTC. The clinical course of MTC varies considerably in the three syndromes. It is very aggressive in MEN 2B, almost indolent in the majority of patients with FMTC and with variable degrees of aggressiveness in patients with MEN 2A. Activating germline point mutations of theRETprotooncogene are present in 98% of MEN 2 families. A strong genotype-phenotype correlation has been observed and a specificRETmutation may be responsible for a more or less aggressive clinical course. The treatment of choice for primary MTC is total thyroidectomy with central neck lymph nodes dissection. Nevertheless, 30% of MTC patients, especially in MEN 2B and 2A, are not cured by surgery. Recently, developed molecular therapeutics that target theRETpathway have shown very promising activity in clinical trials of patients with advanced MTC. MEN 2 prognosis is strictly dependent on the MTC aggressiveness and thus on the success of the initial treatment.

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