2,432 results match your criteria Wermer Syndrome MEN Type 1


Primary Hyperparathyroidism.

Authors:
Laura Masi

Front Horm Res 2019 19;51:1-12. Epub 2018 Nov 19.

The 4 parathyroid glands derive from the third and fourth pharyngeal pouches and descend caudally to the anterior neck. Through the secretion of parathyroid hormone (PTH), the parathyroid glands are primarily responsible for maintaining extracellular calcium and phosphorus concentrations. Hypercalcemia may be distinguished in parathyroid-hypercalcemia and nonparathyroid hypercalcemia. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000491034DOI Listing
November 2018

Pituitary adenomas in patients with multiple endocrine neoplasia type 1: a single-center experience in China.

Pituitary 2019 Jan 14. Epub 2019 Jan 14.

Department of Endocrinology, Peking Union Medical College Hospital, Beijing, 100730, China.

Purpose: To explore the clinical characteristics of pituitary adenomas in patients with MEN1 and to summarize treatment strategies for MEN1 in a Chinese population.

Methods: We retrospectively analyzed 54 MEN1 patients with pituitary adenomas diagnosed at Peking Union Medical College Hospital from March 2003 to January 2017. Clinical data, laboratory testing results, treatments of involved glands and treatment responses were collected and analyzed. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11102-019-00939-x
Publisher Site
http://dx.doi.org/10.1007/s11102-019-00939-xDOI Listing
January 2019
1 Read

Three Novel MEN1 Variants in AIP-Negative Familial Isolated Pituitary Adenoma Patients.

Pathobiology 2019 Jan 10:1-7. Epub 2019 Jan 10.

Department of Genetics, Aziz Sancar Institute of Experimental Medicine, Istanbul University, Istanbul, Turkey.

Objectives: Pituitary adenomas (PAs) may rarely occur in well-defined hereditary conditions, like multiple endocrine neoplasia type 1 (MEN1) syndrome and familial isolated pituitary adenoma (FIPA) associated with germline mutations in MEN1 and AIP, respectively. This study aimed to assess MEN1 genetic abnormalities in AIP mutation-negative FIPA patients, not associated with MEN1 components.

Methods: Among 20 patients evaluated in 13 FIPA families, 12 were previously reported as AIP mutation-negative. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000495252DOI Listing
January 2019

Distinct genome-wide methylation patterns in sporadic and hereditary nonfunctioning pancreatic neuroendocrine tumors.

Cancer 2019 Jan 8. Epub 2019 Jan 8.

Department of Surgery, Stanford University, Stanford, California.

Background: Aberrant methylation is a known cause of cancer initiation and/or progression. There are scant data on the genome-wide methylation pattern of nonfunctioning pancreatic neuroendocrine tumors (NFPanNETs) and sporadic and hereditary NFPanNETs.

Methods: Thirty-three tissue samples were analyzed: they included samples from sporadic (n = 9), von Hippel-Lindau (VHL)-related (n = 10), and multiple endocrine neoplasia type 1 (MEN1)-related NFPanNETs (n = 10) as well as normal islet cells (n = 4) for comparison. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/cncr.31930
Publisher Site
http://dx.doi.org/10.1002/cncr.31930DOI Listing
January 2019
2 Reads

Chemoprevention with Somatuline© Delays the Progression of Pancreatic Neuroendocrine Neoplasms in a Mouse Model of Multiple Endocrine Neoplasia Type 1 (MEN1).

World J Surg 2019 Jan 1. Epub 2019 Jan 1.

Department of Endocrine Surgery, Schön Klinik Hamburg Eilbek, Dehnhaide 120, 22081, Hamburg, Germany.

Objective: Long-acting synthetic somatostatin analogues (SSA) are an essential part of the treatment of neuroendocrine neoplasms. We evaluated the chemopreventive effects of a long-acting somatostatin analogue on the development of pancreatic neuroendocrine neoplasms (pNENs) in a genetically engineered MEN1 knockout mouse model.

Materials And Methods: Heterozygote MEN1 knockout mice were injected every 28 days subcutaneously with the somatostatin analogue lanreotide (Somatuline Autogel©; Ipsen Pharma) or a placebo starting at day 35 after birth. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00268-018-4839-8DOI Listing
January 2019

Orthotopic Liver Transplantation for Hereditary Hemorrhagic Telangiectasia and MEN Type I Syndrome - Case Report and Review of Literature.

Chirurgia (Bucur) 2018 Nov-Dec;113(6):837-848

Hereditary haemorrhagic telangiectasia (HHT) is a rare autosomal dominant genetic disorder characterized by arteriovenous malformations (AVMs) mainly affecting the lungs and the liver. In this case AVM's resulted in liver cirrhosis and an indication for orthotopic liver transplantation (OLT). A 59 year-old male patient with HHT who had been previously diagnosed with Multiple Endocrine Neoplasia type 1 Syndrome (MEN 1) was listed for OLT for end-stage liver disease due to hepatic AVMs. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.21614/chirurgia.113.6.837DOI Listing
December 2018

Hyperandrogenism in a child with multiple endocrine neoplasia type 1.

Endocrinol Diabetes Nutr 2018 Dec 24. Epub 2018 Dec 24.

Unidad de Endocrinología y Nutrición, Hospital Universitario Virgen del Rocío, Sevilla, España.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.endinu.2018.11.002DOI Listing
December 2018

Metastatic Potential and Survival of Duodenal and Pancreatic Tumors in Multiple Endocrine Neoplasia Type 1: A GTE and AFCE Cohort Study (Groupe d'étude des Tumeurs Endocrines and Association Francophone de Chirurgie Endocrinienne).

Ann Surg 2018 Dec 21. Epub 2018 Dec 21.

INSERM, U1231, Epidemiology and Clinical Research in Digestive Cancers Team, Dijon, France.

Objective: To assess the distant metastatic potential of duodeno-pancreatic neuroendocrine tumors (DP-NETs) in patients with MEN1, according to functional status and size.

Summary Background Data: DP-NETs, with their numerous lesions and endocrine secretion-related symptoms, continue to be a medical challenge; unfortunately they can become aggressive tumors associated with distant metastasis, shortening survival. The survival of patients with large nonfunctional DP-NETs is known to be poor, but the overall contribution of DP-NETs to metastatic spread is poorly known. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1097/SLA.0000000000003162DOI Listing
December 2018
5 Reads

An update on the genetics of benign pituitary adenomas in children and adolescents.

Curr Opin Endocr Metab Res 2018 Aug 24;1:19-24. Epub 2018 Apr 24.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.

Pituitary adenomas in children and adolescents are rare tumors that often result from a tumor predisposition syndrome. Several inherited causes for pituitary adenomas have been identified in the last few years, including multiple endocrine neoplasia type 1 and 4, Carney's complex, Tuberous sclerosis, DICER1 syndrome, neurofibromatosis type 1, McCune Albright syndrome, familial isolated pituitary adenoma, and pituitary adenoma association due to defects in succinate dehydrogenase genes. Recently, our group discovered X-linked acrogigantism (X-LAG), a new pediatric disorder that is caused by an Xq26. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.coemr.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289528PMC

Evolution of Our Understanding of the Hyperparathyroid Syndromes: A Historical Perspective.

J Bone Miner Res 2018 Dec 10. Epub 2018 Dec 10.

Calcium Research Laboratory, Metabolic Disorders and Complications Program, Research Institute of the McGill University Health Centre, Montreal, Canada.

We review advancing and overlapping stages for our understanding of the expressions of six hyperparathyroid (HPT) syndromes: multiple endocrine neoplasia type 1 (MEN1) or type 4, multiple endocrine neoplasia type 2A (MEN2A), hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, neonatal severe primary hyperparathyroidism, and familial isolated hyperparathyroidism. During stage 1 (1903 to 1967), the introduction of robust measurement of serum calcium was a milestone that uncovered hypercalcemia as the first sign of dysfunction in many HPT subjects, and inheritability was reported in each syndrome. The earliest reports of HPT syndromes were biased toward severe or striking manifestations. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jbmr.3650DOI Listing
December 2018
3 Reads

Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects.

J Endocrinol 2019 Feb;240(2):R21-R45

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine, Queen Mary University of London, London, UK.

While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or FIPA) or as part of a syndrome. FIPA is caused, in 15-30% of all kindreds, by inactivating mutations in the AIP gene, encoding a co-chaperone with a vast array of interacting partners and causing most commonly growth hormone excess. While the mechanisms linking AIP with pituitary tumorigenesis have not been fully understood, they are likely to involve several pathways, including the cAMP-dependent protein kinase A pathway via defective G inhibitory protein signalling or altered interaction with phosphodiesterases. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/JOE-18-0446DOI Listing
February 2019
1 Read

Germline and somatic mosaicism in a family with Multiple Endocrine Neoplasia type 1 (MEN1) syndrome.

Eur J Endocrinol 2018 Nov 1. Epub 2018 Nov 1.

M Kempers, Human Genetics, Radboudumc, Nijmegen, Netherlands.

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1 and can be diagnosed based on clinical, familial and/or genetic criteria. We present a family in which we found both germline and somatic mosaicism for MEN1. Family description: In our proband we diagnosed MEN1. Read More

View Article

Download full-text PDF

Source
https://eje.bioscientifica.com/view/journals/eje/aop/eje-18-
Publisher Site
http://dx.doi.org/10.1530/EJE-18-0778DOI Listing
November 2018
13 Reads

Intraoperative Decision-Making and Technical Aspects of Parathyroidectomy in Young Patients With MEN1 Related Hyperparathyroidism.

Front Endocrinol (Lausanne) 2018 16;9:618. Epub 2018 Oct 16.

Department of Surgical Oncology, University of Texas MD Anderson Cancer Center, Houston, TX, United States.

One in 5,000 to 1 in 50,000 births have multiple endocrine neoplasia type 1 (MEN1). MEN1 is a hereditary syndrome clinically defined by the presence of two of the following endocrine tumors in the same patient: parathyroid adenomas, entero-pancreatic endocrine tumors and pituitary tumors. Most commonly, patients with MEN1 manifest primarily with signs and symptoms linked to primary hyperparathyroidism. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2018.00618DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6232704PMC
October 2018
1 Read

Multiple endocrine neoplasia type 1: extensive analysis of a large database of Florentine patients.

Orphanet J Rare Dis 2018 Nov 14;13(1):205. Epub 2018 Nov 14.

Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.

Background: Multiple endocrine neoplasia (MEN1) is a rare inherited multi-tumour syndrome, affecting specific neuroendocrine organs and non-endocrine tissues with a variable spectrum of over 20 possible different combinations, caused by inactivating heterozygote mutations of the MEN1 gene. Disease onset, penetrance, clinical presentation, course and prognosis are all extremely variable, even among individuals bearing the same causative mutation, which doesn't allow prediction of the individual clinical phenotype (based on the specific result of the genetic test), thus compelling all patients and mutation carriers to undergo a common routine general screening program.

Results: We performed an extensive epidemiological, clinical and genetic analysis of the Florentine MEN1 patient database, which includes 145 MEN1 patients and 20 asymptomatic MEN1 carriers, constantly followed up at the Regional Referral Centre for Inherited Endocrine Tumours of the Tuscany Region, during the last three decades. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13023-018-0938-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6237029PMC
November 2018
3 Reads

High prevalence of chronic kidney disease in patients with multiple endocrine neoplasia type 1 and improved kidney function after parathyroidectomy.

Surgery 2019 Jan 7;165(1):124-128. Epub 2018 Nov 7.

Endocrine Oncology Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

Background: Because chronic kidney disease is an important comorbidity associated with primary hyperparathyroidism, we sought to evaluate the prevalence of chronic kidney disease and effects of parathyroidectomy on kidney function in patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism.

Methods: We performed a retrospective analysis of 112 patients with multiple endocrine neoplasia type 1-associated primary hyperparathyroidism who had at least 1 operation for primary hyperparathyroidism at 2 tertiary referral centers. The preoperative and postoperative estimated glomerular filtration rates were compared. Read More

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S00396060183050
Publisher Site
http://dx.doi.org/10.1016/j.surg.2018.04.064DOI Listing
January 2019
5 Reads

Multicentric insulinoma associated with multiple endocrine neoplasia type 1: One case report

Rev Med Inst Mex Seguro Soc 2018 Oct 25;56(3):316-319. Epub 2018 Oct 25.

Background: Pancreatic neuroendocrine tumors may be associated with multiple endocrine neoplasia type 1 (MEN1) in 15-25% of cases, and up to 10% develop insulinomas, which are the most frequent cause of persistent hyperinsulinemic hypoglycemia in adults. The objective is to show a clinical case that presents this association.

Clinical Case: 36-year-old patient with seizures associated with fasting hypoglycemia of 36 mg/dL. Read More

View Article

Download full-text PDF

Source
October 2018
2 Reads

MiR-15a/miR-16-1 expression inversely correlates with cyclin D1 levels in Men1 pituitary NETs.

J Endocrinol 2018 Sep 1. Epub 2018 Sep 1.

R Thakker, University of Oxford, Radcliffe Department of Medicine, Oxford Centre for Diabetes Endocrinology and Metabolism, Oxford, United Kingdom of Great Britain and Northern Ireland.

Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the combined occurrence of parathyroid, pituitary and pancreatic islet tumours, and is due to mutations of the MEN1 gene, which encodes the tumour suppressor protein menin. Menin has multiple roles in genome stability, transcription, cell division and proliferation, but its mechanistic roles in tumourigenesis remain to be fully elucidated. MicroRNAs (miRNA) are non-coding single stranded RNAs that post-transcriptionally regulate gene expression and have been associated with tumour development, although the contribution of miRNAs to MEN1-associated tumourigenesis and their relationship with menin expression are not fully understood. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/JOE-18-0278DOI Listing
September 2018
10 Reads

No evidence of adverse fertility and pregnancy outcomes in patients with unrecognized and untreated multiple endocrine neoplasia type 1.

Clin Endocrinol (Oxf) 2018 Oct 28. Epub 2018 Oct 28.

School of Medicine, Department of Diabetes and Endocrinology, Royal Hobart Hospital, University of Tasmania, Hobart, Tasmania.

Objective: Literature concerning the impact of multiple endocrine neoplasia type 1 (MEN 1) on fertility is limited to case reports despite the early onset of endocrinopathies, such as primary hyperparathyroidism and prolactinoma, that may impact fertility. This study describes the impact of unrecognized and untreated MEN 1 on fertility and pregnancy outcomes in a multigenerational cohort of the Tasman 1 MEN 1 kindred.

Methods: All MEN 1 positive (MEN 1 , n = 63) and MEN 1 negative (MEN 1 , n = 75) descendants born between 1825 and 1951 of a common founder. Read More

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1111/cen.13890
Publisher Site
http://dx.doi.org/10.1111/cen.13890DOI Listing
October 2018
7 Reads

When Parathyroidectomy Should Be Indicated or Postponed in Adolescents With MEN1-Related Primary Hyperparathyroidism.

Front Endocrinol (Lausanne) 2018 5;9:597. Epub 2018 Oct 5.

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare inherited endocrine tumor syndrome principally affecting parathyroid glands, neuroendocrine tissues of the gastro-entero-pancreatic and thoracic tracts, and anterior pituitary, caused by germline inactivating mutations of the tumor suppressor gene. Primary hyperparathyroidism (PHPT) is usually the first clinical manifestation of the syndrome, normally manifesting during the third decade of life. Cases of affected children and adolescents have been described by the age of 5. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fendo.2018.00597
Publisher Site
http://dx.doi.org/10.3389/fendo.2018.00597DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6193525PMC
October 2018
18 Reads

'Quality in, quality out', a stepwise approach to EBM for rare diseases promoted by MEN1.

Endocr Connect 2018 Sep 1. Epub 2018 Sep 1.

G Valk, Endocrine Oncology, University Medical Center Utrecht, Utrecht, Netherlands.

Rare diseases pose specific challenges in the field of medical research to provide physicians with evidence based guidelines derived from studies with sufficient quality. An example of these rare diseases is multiple endocrine neoplasia type 1 (MEN1), which is an autosomal dominant endocrine tumor syndrome with an estimated occurrence rate of 2-3 per 100.000. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1530/EC-18-0359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215791PMC
September 2018
16 Reads

Gastrinoma of Cystic Duct: A Rare Association With Multiple Endocrine Neoplasia Type 1.

J Clin Med Res 2018 Nov 9;10(11):843-847. Epub 2018 Oct 9.

Department of Internal Medicine and Endocrine Unit, Medical School and Clementino Fraga Filho University Hospital, Federal University of Rio de Janeiro, Rio de Janeiro, Brazil.

Neuroendocrine tumors (NETs) of cystic duct are extremely rare, accounting for less than 2% of NET cases. The association of biliary tree NET and multiple endocrine neoplasm type 1 (MEN1) are even more rare. In this report, we described a case of a 65-year-old woman who was referred to our neuroendocrine outpatient clinic to investigate MEN1 after an incidental diagnosis of gastrinoma. Read More

View Article

Download full-text PDF

Source
http://www.jocmr.org/index.php/JOCMR/article/view/3541
Publisher Site
http://dx.doi.org/10.14740/jocmr3541wDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6188020PMC
November 2018
8 Reads

Surgical treatment of congenital hyperinsulinism: Results from 500 pancreatectomies in neonates and children.

J Pediatr Surg 2018 Oct 5. Epub 2018 Oct 5.

Department of Pediatrics and the Congenital Hyperinsulinism Center, Children's Hospital of Philadelphia and the Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA.

Background: Congenital Hyperinsulinism (HI) causes severe hypoglycemia in neonates and children. We reviewed our experience with pancreatectomy for the various types of HI.

Methods: From 1998 to 2018, 500 patients with HI underwent pancreatectomy: 246 for focal HI, 202 for diffuse HI, 37 for atypical HI (16 for Localized Islet Nuclear Enlargement [LINE], 21 for Beckwith-Wiedemann Syndrome), and 15 for insulinoma. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.jpedsurg.2018.10.030DOI Listing
October 2018
1 Read

UMD-MEN1 database: an overview of the 370 MEN1 variants present in 1,676 patients from the French population.

J Clin Endocrinol Metab 2018 Oct 18. Epub 2018 Oct 18.

Aix Marseille Univ, INSERM, MMG, Laboratory of Molecular Biology Hospital La Conception, Marseille, France.

Context: Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the MEN1 gene characterized by a broad spectrum of clinical manifestations, of which the most frequent are primary hyperparathyroidism, pituitary adenomas, and neuroendocrine tumors.

Objective: The aim of this work is to facilitate interpretation of variants and improve the genetic counseling and medical care of MEN1-patients' families.

Design, Setting, And Patients: The TENGEN network (French oncogenetics network of neuroendocrine tumors) has interpreted and collected all allelic variants and clinical characteristics of the MEN1-positive patients identified through genetic testing performed in the French population from 1997 to 2015. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/jc.2018-01170DOI Listing
October 2018
1 Read

Perioperative Hypotensive Crisis in an Adolescent with a Pancreatic VIPoma and MEN1-Gene Variant.

Horm Res Paediatr 2018 Oct 16:1-5. Epub 2018 Oct 16.

Division of Endocrinology, Department of Pediatrics, British Columbia Children's Hospital and The University of British Columbia, Vancouver, British Columbia, Canada.

Background: Vasoactive intestinal peptide-secreting tumours (VIPomas) lead to high-volume secretory diarrhoea with hypokalaemia, as well as hyperglycaemia and hypercalcaemia. Diagnosis is often delayed.

Case Description: We present a 13-year-old girl with a distal pancreatic VIPoma diagnosed on her second hospital presentation who became severely hypotensive on anaesthetic induction prior to tumour removal, likely due to the vasodilatory effect of supraphysiological VIP levels. Read More

View Article

Download full-text PDF

Source
https://www.karger.com/Article/FullText/493396
Publisher Site
http://dx.doi.org/10.1159/000493396DOI Listing
October 2018
14 Reads

Germline mutation landscape of multiple endocrine neoplasia type 1 using full gene next-generation sequencing.

Eur J Endocrinol 2018 12;179(6):391-407

Unidade de Endocrinologia Genetica UEG, Laboratorio de Endocrinologia Celular e Molecular LIM-25, Disciplina de Endocrinologia.

Background Loss-of-function germline MEN1 gene mutations account for 75-95% of patients with multiple endocrine neoplasia type 1 (MEN1). It has been postulated that mutations in non-coding regions of MEN1 might occur in some of the remaining patients; however, this hypothesis has not yet been fully investigated. Objective To sequence for the entire MEN1 including promoter, exons and introns in a large MEN1 cohort and determine the mutation profile. Read More

View Article

Download full-text PDF

Source
https://eje.bioscientifica.com/view/journals/eje/aop/eje-18-
Publisher Site
http://dx.doi.org/10.1530/EJE-18-0430DOI Listing
December 2018
6 Reads

Total and Subtotal Parathyroidectomy in Young Patients With Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism: Potential Post-surgical Benefits and Complications.

Front Endocrinol (Lausanne) 2018 24;9:558. Epub 2018 Sep 24.

Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.

The choice of surgical treatment for patients with Multiple Endocrine Neoplasia type 1 (MEN1)-related primary hyperparathyroidism (PHPT) remains controversial and it has not been specifically addressed in young patients. This is a retrospective case series study. The study includes the surgical data and the follow-up of 38 patients younger than 30 years of age, all diagnosed with MEN1, collected and followed-up between 1991 and 2017 at the Regional Referral Center for Inherited Endocrine Tumors of the Tuscany Region, and operated by parathyroidectomy. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2018.00558DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6165877PMC
September 2018
1 Read

Visualization of Macroprolactinoma by F-Fluorocholine PET/CT in a Patient With Multiple Endocrine Neoplasia Type 1.

J Endocr Soc 2018 Oct 13;2(10):1170-1172. Epub 2018 Sep 13.

Department of Nuclear Medicine, Tenon Hospital, Assistance Publique Hôpitaux de Paris, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/js.2018-00193DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6169461PMC
October 2018
1 Read

Results of Duodenopancreatic Reoperations in Multiple Endocrine Neoplasia Type 1.

World J Surg 2019 Feb;43(2):552-558

Department of Visceral-, Thoracic- and Vascular Surgery, Philipps University of Marburg, Baldingerstr, 35043, Marburg, Germany.

Background: To evaluate the outcome of duodenopancreatic reoperations in patients with multiple endocrine neoplasia type 1 (MEN1).

Methods: MEN1 patients who underwent reoperations for duodenopancreatic neuroendocrine neoplasms (dpNENs) were retrieved from a prospective database and retrospectively analyzed.

Results: Twelve of 101 MEN1 patients underwent up to three reoperations, resulting in a total of 18 reoperations for dpNEN recurrence. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s00268-018-4809-1
Publisher Site
http://dx.doi.org/10.1007/s00268-018-4809-1DOI Listing
February 2019
15 Reads

Reduced menin expression impairs rapamycin effects as evidenced by an increase in mTORC2 signaling and cell migration.

Cell Commun Signal 2018 Oct 1;16(1):64. Epub 2018 Oct 1.

Department of medical sciences, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

Background: Mammalian target of rapamycin (mTOR) is a master regulator of various cellular responses by forming two functional complexes, mTORC1 and mTORC2. mTOR signaling is frequently dysregulated in pancreatic neuroendocrine tumors (PNETs). mTOR inhibitors have been used in attempts to treat these lesions, and prolonged progression free survival has been recorded. Read More

View Article

Download full-text PDF

Source
https://biosignaling.biomedcentral.com/articles/10.1186/s129
Publisher Site
http://dx.doi.org/10.1186/s12964-018-0278-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6167842PMC
October 2018
17 Reads

Is endoscopic ultrasonography more sensitive than magnetic resonance imaging in detecting and localizing pancreatic neuroendocrine tumors?

Rev Endocr Metab Disord 2018 Jun;19(2):133-137

Centre for Endocrinology, Diabetology & Osteology, Endocrine Laboratory, Philipp's University and University Hospital Marburg, Marburg, Germany.

To compare endoscopic ultrasonography (EUS) and magnetic resonance imaging (MRI) in terms of their sensitivities to localize pancreatic neuroendocrine tumors (pNET) preoperatively. Systematic analysis of the literature; sensitivity of EUS and MRI in insulinomas and pancreaticoduodenal NETs in multiple endocrine neoplasia type 1 (MEN1) in series of at least 20 subjects referring to tumors confirmed by surgery and histopathology. Other imaging methods reported were also assessed. Read More

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s11154-018-9464-1
Publisher Site
http://dx.doi.org/10.1007/s11154-018-9464-1DOI Listing
June 2018
8 Reads

Multiple Endocrine Neoplasia Type 1: A Case Report With Review of Imaging Findings.

Ochsner J 2018 ;18(2):170-175

Department of Radiology, Ochsner Clinic Foundation, New Orleans, LA.

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare, autosomal dominant inherited syndrome caused by mutations in the MEN1 tumor suppressor gene. The diagnosis is defined clinically by the presence of 2 or more primary MEN1 tumors (parathyroid, anterior pituitary, and pancreatic islet). We describe the case of a patient who presented with classic history and imaging findings for MEN1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.31486/toj.17.0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6135292PMC
January 2018
2 Reads

The Importance of an Early and Accurate MEN1 Diagnosis.

Front Endocrinol (Lausanne) 2018 11;9:533. Epub 2018 Sep 11.

Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, Netherlands.

Multiple Endocrine Neoplasia type 1 (MEN1) is a rare autosomal dominant inherited condition, causing significant morbidity, and a reduction of life expectancy. A timely and accurate diagnosis of MEN1 is paramount to improve disease outcomes. This enables early identification of tumor manifestations allowing timely treatment for reducing morbidity and improving survival. Read More

View Article

Download full-text PDF

Source
https://www.frontiersin.org/article/10.3389/fendo.2018.00533
Publisher Site
http://dx.doi.org/10.3389/fendo.2018.00533DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6141626PMC
September 2018
10 Reads

MiR-24-3p regulates cell proliferation and milk protein synthesis of mammary epithelial cells through menin in dairy cows.

J Cell Physiol 2019 Feb 17;234(2):1522-1533. Epub 2018 Sep 17.

Shandong Key Laboratory of Animal Bioengineering and Disease Prevention, College of Animal Science and Technology, Shandong Agricultural University, Tai'an, Shandong, China.

MiR-24-3p, a broadly conserved, small, noncoding RNA, is abundantly expressed in mammary tissue. However, its regulatory role in this tissue remains poorly understood. It was predicted that miR-24-3p targets the 3' untranslated region (3'-UTR) of multiple endocrine neoplasia type 1 (MEN1), an important regulatory factor in mammary tissue. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/jcp.27017DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282567PMC
February 2019
3 Reads

Menin Deficiency Leads to Depressive-like Behaviors in Mice by Modulating Astrocyte-Mediated Neuroinflammation.

Neuron 2018 Nov 13;100(3):551-563.e7. Epub 2018 Sep 13.

Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, College of Medicine, Xiamen University, Xiamen, Fujian 361102, P.R. China. Electronic address:

Astrocyte dysfunction and inflammation are associated with the pathogenesis of major depressive disorder (MDD). However, the mechanisms underlying these effects remain largely unknown. Here, we found that multiple endocrine neoplasia type 1 (Men1; protein: menin) expression is attenuated in the brain of mice exposed to CUMS (chronic unpredictable mild stress) or lipopolysaccharide. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.neuron.2018.08.031DOI Listing
November 2018
2 Reads
15.054 Impact Factor

Diagnosing Nonfunctional Pancreatic NETs in MEN1: The Evidence Base.

J Endocr Soc 2018 Sep 31;2(9):1067-1088. Epub 2018 Jul 31.

Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, Netherlands.

In multiple endocrine neoplasia type 1 (MEN1), nonfunctional pancreatic neuroendocrine tumors (NF-pNETs) are the most frequently diagnosed NETs and a leading cause of MEN1-related death. The high prevalence and malignant potential of NF-pNETs outline the need for an evidence-based screening program, as early diagnosis and timely intervention could reduce morbidity and mortality. Controversies exist regarding the value of several diagnostic tests. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1210/js.2018-00087DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6125714PMC
September 2018
1 Read

Tissue-specific induced DNA methyltransferase 1 (Dnmt1) in endocrine pancreas by RCAS-TVA-based somatic gene transfer system promotes β-cell proliferation.

Cancer Gene Ther 2018 Sep 7. Epub 2018 Sep 7.

Rutgers Cancer Institute of New Jersey, New Brunswick, NJ, USA.

We reported that inactivation of menin (the protein product of MEN1) increases activity of Dnmt1 and mediates DNA hypermethylation in the development of multiple endocrine neoplasia type 1 (MEN1) syndrome. We have developed a RCAS-TVA-based somatic gene transfer system that enables tissue-specific delivery of Dnmt1 to individual β-cells of the pancreas in a RIP-TVA mouse model. In the present study, we mediated Dnmt1 expression in islet β-cells in RIP-TVA mice by utilizing the RCAS-TVA system to test if the upregulation of Dnmt1 can promote β-cell proliferation. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41417-018-0046-xDOI Listing
September 2018
1 Read

First report of concomitant pheochromocytoma and duodenal neuroendocrine tumour in a sporadic multiple endocrine neoplasia type 1.

BMJ Case Rep 2018 Sep 4;2018. Epub 2018 Sep 4.

Internal Medicine, Providence Health System, Washington, District of Colombia, USA.

A 77-year-old woman was diagnosed with pheochromocytoma followed by adrenalectomy at age 57. Hyperparathyroidism without osteoprosis was diagnosed at age 58. At age 75, Dual Energy X-ray Absoptiometry (DEXA) revealed osteoporosis and sestamibi scan showed a left parathyroid adenoma. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/bcr-2017-222947DOI Listing
September 2018
8 Reads

Multiple endocrine neoplasia type 1: clinical correlates of MEN1 gene methylation.

Pathology 2018 Oct 24;50(6):622-628. Epub 2018 Aug 24.

School of Medicine, University of Tasmania, Hobart, Tas, Australia; Royal Hobart Hospital, Hobart, Tas, Australia.

Multiple endocrine neoplasia type 1 (MEN 1) has marked severity variation between individuals with the same mutation. To investigate any relationship between promoter methylation and clinical features, blood and tissue samples were collected from 16 members of the Tasman 1 MEN 1 kindred carrying a common splice site mutation and 7 patients with sporadic MEN 1. Methylation at 39 CpGs in the MEN1 promoter were assessed in formalin fixed, paraffin embedded parathyroid tissue. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pathol.2018.05.006DOI Listing
October 2018
1 Read

Multiple endocrine neoplasia type 1 presenting with concurrent insulinoma and prolactinoma in early-adolescence.

Int J Pediatr Endocrinol 2018 6;2018. Epub 2018 Aug 6.

Department of Pediatrics, Johns Hopkins University School of Medicine, 200 N Wolfe St, Rm 3120, Baltimore, MD 21287 USA.

Background: Multiple Endocrine Neoplasia Type 1 (MEN1) is a rare autosomal dominant disease that generally presents with primary hyperparathyroidism. However, initial presentation may vary and continued reevaluation of etiology of symptoms is required for appropriate diagnosis.

Case Presentation: Twelve year old female presented with altered mental status that self-resolved and hypoglycemia. Read More

View Article

Download full-text PDF

Source
https://ijpeonline.biomedcentral.com/articles/10.1186/s13633
Publisher Site
http://dx.doi.org/10.1186/s13633-018-0061-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6091168PMC
August 2018
10 Reads

Gastrinomas: Medical or Surgical Treatment.

Endocrinol Metab Clin North Am 2018 09;47(3):577-601

Digestive Diseases Branch, NIDDK, National Institutes of Health, Building 10, Room 9C-103, Bethesda, MD 20892-1804, USA. Electronic address:

This article reviews the role of surgical and medical management in patients with Zollinger-Ellison syndrome (ZES) due to a gastrin-secreting neuroendocrine tumor (gastrinoma). It concentrates on the status at present but also briefly reviews the changes over time in treatment approaches. Generally, surgical and medical therapy are complementary today; however, in some cases, such as patients with ZES and multiple endocrine neoplasia type 1, the treatment approach remains controversial. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ecl.2018.04.009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6092039PMC
September 2018
3 Reads

Molecular Genetic Studies of Pancreatic Neuroendocrine Tumors: New Therapeutic Approaches.

Endocrinol Metab Clin North Am 2018 09;47(3):525-548

Radcliffe Department of Medicine, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, Churchill Hospital, Headington, Oxford OX3 7LJ, UK. Electronic address:

Pancreatic neuroendocrine tumors (PNETs) arise sporadically or as part of familial syndromes. Genetic studies of hereditary syndromes and whole exome sequencing analysis of sporadic NETs have revealed the roles of some genes involved in PNET tumorigenesis. The multiple endocrine neoplasia type 1 (MEN1) gene is most commonly mutated. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ecl.2018.04.007DOI Listing
September 2018
9 Reads

Questions and Controversies About Parathyroid Pathophysiology in Children With Multiple Endocrine Neoplasia Type 1.

Front Endocrinol (Lausanne) 2018 17;9:359. Epub 2018 Jul 17.

Endocrine Genetics Unit (LIM-25), Endocrinology Division, Hospital das Clínicas, University of São Paulo School of Medicine, São Paulo, Brazil.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fendo.2018.00359DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057055PMC
July 2018
11 Reads

Chemoprevention with Enalapril and Aspirin in Men1(+/T) Knockout Mouse Model.

Neuroendocrinology 2018 19;107(3):257-266. Epub 2018 Jul 19.

Department of Visceral, Thoracic and Vascular Surgery, Philipps University Marburg, Marburg, Germany.

Pancreatic neuroendocrine neoplasias (pNEN) are the most common cause of death in adult patients with multiple endocrine neoplasia type 1 (MEN1). So far, only few chemopreventive strategies (e.g. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1159/000492224DOI Listing
January 2019
16 Reads

Neuron-Specific Menin Deletion Leads to Synaptic Dysfunction and Cognitive Impairment by Modulating p35 Expression.

Cell Rep 2018 Jul;24(3):701-712

Fujian Provincial Key Laboratory of Neurodegenerative Disease and Aging Research, Institute of Neuroscience, Medical College, Xiamen University, Xiamen, Fujian 361102, China. Electronic address:

Menin (MEN1) is a critical modulator of tissue development and maintenance. As such, MEN1 mutations are associated with multiple endocrine neoplasia type 1 (MEN1) syndrome. Although menin is abundantly expressed in the nervous system, little is known with regard to its function in the adult brain. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.celrep.2018.06.055DOI Listing
July 2018
15 Reads
7.210 Impact Factor

Incidental Detection of Parathyroid Adenoma on Somatostatin Receptor PET/CT and Incremental Role of F-Fluorocholine PET/CT in MEN1 Syndrome.

Nucl Med Mol Imaging 2018 Jun 2;52(3):238-242. Epub 2018 May 2.

1Department of Nuclear Medicine, All India Institute of Medical Sciences, New Delhi, 110029 India.

Multiple endocrine neoplasia type 1 (MEN1) syndrome is characterized by combined occurrence of tumors of endocrine glands including the parathyroid, the pancreatic islet cells, and the anterior pituitary gland. Parathyroid involvement is the most common manifestation and usually the first clinical involvement in MEN1 syndrome, followed by gastroentero-pancreatic neuroendocrine tumors (NETs). Here we present a case where the patient initially presented with metastatic gastric NET and a single parathyroid adenoma was detected incidentally on Ga-DOTANOC PET/CT done as part of post Lu-DOTATATE therapy (PRRT) follow-up. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s13139-018-0520-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5995772PMC
June 2018
13 Reads

Children with MEN1 gene mutations may present first (and at a young age) with Cushing disease.

Clin Endocrinol (Oxf) 2018 Oct 20;89(4):437-443. Epub 2018 Jul 20.

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health, Bethesda, Maryland.

Objective: Cushing disease (CD) is a rare entity caused by ACTH-secreting pituitary tumours, leading to prolonged hypercortisolism. Most cases are sporadic but can rarely occur in the context of familial predisposition, due to germline mutations in genes such as MEN1, leading to multiple endocrine neoplasia type 1, MEN1. We have reported previously that CD can be the first and only presenting manifestation of MEN1. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/cen.13796DOI Listing
October 2018
15 Reads

Parathyroid carcinoma in multiple endocrine neoplasm type 1 syndrome: case report and systematic literature review.

Clin Exp Med 2018 Jun 20. Epub 2018 Jun 20.

Department of Biomedical Sciences and Human Oncology - Unit of Endocrine, Digestive and Emergency Surgery, University "A. Moro" of Bari. Polyclinic of Bari, Piazza Giulio Cesare, 1, 70124, Bari, Italy.

The aim of this report was to illustrate a case of parathyroid carcinoma (PC) in a patient with multiple endocrine neoplasia type 1 (MEN1) along with a comprehensive literature review. A 61-year-old man presented with 9-cm PC causing primary hyperparathyroidism (PHPT). His pre-operative corrected calcium and intact PTH serum levels were 2. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10238-018-0512-7DOI Listing
June 2018
3 Reads

Robotic enucleation for pediatric insulinoma with MEN1 syndrome: a case report and literature review.

BMC Surg 2018 Jun 19;18(1):44. Epub 2018 Jun 19.

Department of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, China.

Background: A patient with a rare pediatric insulinoma and MEN1 syndrome was treated by robotic enucleation surgery.

Case Presentation: We present a case of a 9-year-old girl presenting with repeated loss of consciousness, concomitant with a pale face, palpitations, and convulsions, which had persisted for 2 years and had been aggravated during the previous 2 months. She was previously misdiagnosed with epilepsy in another hospital. Read More

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s12893-018-0376-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6009035PMC
June 2018
7 Reads