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    2258 results match your criteria Wermer Syndrome MEN Type 1

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    Natural History of MEN1 GEP-NET: Single-Center Experience After a Long Follow-Up.
    World J Surg 2017 Apr 20. Epub 2017 Apr 20.
    Department of Surgery and Translational Medicine, University of Florence, Largo Brambilla 3, 50139, Florence, Italy.
    Background: The multiple endocrine neoplasia type 1 syndrome (MEN1) natural history is poorly evaluated, and few single-institution experiences about hereditary gastroenteropancreatic neuroendocrine tumors (GEP-NET) are reported. Our purpose is to analyze the role of GEP-NET in MEN1-related death, as well as the behavior of these lesions during follow-up.

    Methods: The study population consists of 77 patients diagnosed with MEN1 GEP-NET, regularly followed up since 1990. Read More

    A MEN1 pancreatic neuroendocrine tumour mouse model, under temporal control.
    Endocr Connect 2017 Apr 18. Epub 2017 Apr 18.
    R Thakker, Oxford Centre for Diabetes, Endocrinology and Metabolism, UNIVERSITY OF OXFORD, OXFORD OX3 7LE, United Kingdom of Great Britain and Northern Ireland
    Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by occurrence of parathyroid tumours, and neuroendocrine tumours (NETs) of the pancreatic islets and anterior pituitary. The MEN1 gene, encoding menin, is a tumour suppressor, but its precise role in initiating in vivo tumourigenesis remains to be elucidated. The availability of a temporally controlled conditional MEN1 mouse model would greatly facilitate the study of such early tumourigenic events, and overcome the limitations of other MEN1 knockout models, in which menin is lost from conception, or tumour development occurs asynchronously. Read More

    Generation of non-integrated induced pluripotent stem cells from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome.
    Stem Cell Res 2017 Jan 7;18:70-72. Epub 2016 Dec 7.
    Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Guangdong Provincial Key Laboratory of Biocomputing, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China. Electronic address:
    Urine resource cells were collected from a 23-year-old male with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids. Two stable iPSC lines with free of episomal plasmid were established. The patient has a heterozygous G>T mutation on the exon 9 of Men1 gene that was confirmed by sequencing analysis on all resulted cell lines. Read More

    Generation of non-integrated induced pluripotent stem cells from a 59-year-old female with multiple endocrine neoplasia type 1 syndrome.
    Stem Cell Res 2017 Jan 9;18:64-66. Epub 2016 Dec 9.
    Institute of Public Health, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; South China Institute for Stem Cell Biology and Regenerative Medicine, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China; Guangdong Provincial Key Laboratory of Biocomputing, Guangzhou Institutes of Biomedicine and Health, Chinese Academy of Sciences, Guangzhou, China. Electronic address:
    Urine resource cells were collected from a 59-year-old female patient with multiple endocrine neoplasia type 1 syndrome (MEN1) for generating iPS cells with episomal plasmids carrying Oct4, Sox2, Klf4 and miR-302-367. The patient sustained a heterozygous G>T transition mutation on the exon 9 of Men1 gene that was confirmed by sequencing analysis on the obtained iPSC lines. Karyotyping indicated the chromosomes with normal appearances and numbers. Read More

    Neuroendocrine Tumors in the Stomach, Duodenum, and Pancreas Accompanied by Novel MEN1 Gene Mutation.
    Korean J Gastroenterol 2017 Mar;69(3):181-186
    Division of Gastroenterology, Department of Internal Medicine, Presbyterian Medical Center, Jeonju, Korea.
    Multiple endocrine neoplasia type 1 (MEN1) syndrome is a relatively rare disease, characterized by the occurrence of multiple endocrine tumors in the parathyroid and pituitary glands as well as the pancreas. Here, we report a case of MEN1 with neuroendocrine tumors (NETs) in the stomach, duodenum, and pancreas. A 53-year-old man visited our hospital to manage gastric NET. Read More

    Utility of FDG-PET imaging for risk stratification of pancreatic neuroendocrine tumours in MEN 1.
    J Clin Endocrinol Metab 2017 Mar 7. Epub 2017 Mar 7.
    Department of Diabetes & Endocrinology, Royal Hobart Hospital, 48 Liverpool Street, Hobart Tasmania 7000 Australia.
    Context: Patients with Multiple Endocrine Neoplasia Type 1 (MEN 1) are at high risk of malignant pancreatic Neuroendocrine Tumours (pNETs). Structural imaging is typically used to screen for pNETs, but is suboptimal for stratifying malignant potential.

    Objective: To determine the utility of Fluorodeoxyglucose (18F) positron emission tomography/computed tomography (18F-FDG PET/CT) for predicting the malignant potential of pNETs in MEN 1. Read More

    MEN1-dependent breast cancer: indication for early screening? Results from the Dutch MEN1 study group.
    J Clin Endocrinol Metab 2017 Mar 17. Epub 2017 Mar 17.
    Department of Endocrine Oncology, University Medical Center Utrecht, The Netherlands.
    Objective: Multiple Endocrine Neoplasia type 1 (MEN1) is associated with an early onset elevated breast cancer risk. This finding potentially has implications for breast cancer screening for females with MEN1. Considering the impact for females with MEN1, regarding distress and anxiety, it is necessary to assess if other risk factors are involved to identify those at greatest risk. Read More

    Radiological surveillance in multiple endocrine neoplasia type 1: a double-edged sword?
    Endocr Connect 2017 Apr 15;6(3):151-158. Epub 2017 Mar 15.
    Wolfson Diabetes and Endocrine ClinicInstitute of Metabolic Science, Addenbrooke's Hospital, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK.
    Context: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary condition characterised by the predisposition to hyperplasia/tumours of endocrine glands. MEN1-related disease, moreover, malignancy related to MEN1, is increasingly responsible for death in up to two-thirds of patients. Although patients undergo radiological and biochemical surveillance, current recommendations for radiological monitoring are based on non-prospective data with little consensus or evidence demonstrating improved outcome from this approach. Read More

    Association between neuroendocrine tumors biomarkers and primary tumor site and disease type based on total (68)Ga-DOTATATE-Avid tumor volume measurements.
    Eur J Endocrinol 2017 May;176(5):575-582
    Endocrine Oncology BranchNational Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA
    Objective: To determine the association between neuroendocrine tumor (NET) biomarker levels and the extent of disease as assessed by (68)Ga DOTATATE PET/CT imaging.

    Design: A retrospective analysis of a prospective database of patients with NETs.

    Methods: Fasting plasma chromogranin A (CgA), neuron-specific enolase (NSE), gastrin, glucagon, vasoactive intestinal peptide (VIP) and pancreatic polypeptide (PP), and 24-h urinary 5-hydroxyindoleacetic acid (5-HIAA) levels were measured. Read More

    Enhancer-Mediated Oncogenic Function of the Menin Tumor Suppressor in Breast Cancer.
    Cell Rep 2017 Mar;18(10):2359-2372
    Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, 450 Brookline Avenue, Boston 02215, MA, USA; Center for Functional Cancer Epigenetics, Dana-Farber Cancer Institute, Harvard Medical School, 450 Brookline Avenue, Boston 02215, MA, USA. Electronic address:
    While the multiple endocrine neoplasia type 1 (MEN1) gene functions as a tumor suppressor in a variety of cancer types, we explored its oncogenic role in breast tumorigenesis. The MEN1 gene product menin is involved in H3K4 trimethylation and co-activates transcription. We integrated ChIP-seq and RNA-seq data to identify menin target genes. Read More

    Is estrogen exposure a protective factor for pancreatic neuroendocrine tumours in female patients with multiple endocrine neoplasia syndrome type 1?
    Clin Endocrinol (Oxf) 2017 Mar 8. Epub 2017 Mar 8.
    Department of Surgical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
    Objective: Pancreatic neuroendocrine tumours (PNETs) are the most common cause of death in patients with multiple endocrine neoplasia type 1 (MEN1). Women have been shown to have improved survival, which may suggest a possible protective effect of female sex hormones. The aim of this study was to evaluate the relationship between estrogen exposure and PNET tumourigenesis, tumour growth and survival in female MEN1 patients with these tumours. Read More

    Menin and PRMT5 suppress GLP1 receptor transcript and PKA-mediated phosphorylation of FOXO1 and CREB.
    Am J Physiol Endocrinol Metab 2017 Mar 7:ajpendo.00241.2016. Epub 2017 Mar 7.
    University of Pennsylvania
    Menin is a scaffold protein that interacts with several epigenetic mediators to regulate gene transcription, and suppresses pancreatic beta cell proliferation. Tamoxifen inducible deletion of multiple endocrine neoplasia type 1 (MEN1) gene, which encodes the protein menin, increases beta cell mass in multiple murine models of diabetes and ameliorates diabetes. Glucagon-like-peptide-1 (GLP1) is another key physiological modulator of beta cell mass and glucose homeostasis. Read More

    A case of type 1 multiple endocrine neoplasia with esophageal stricture successfully treated with endoscopic balloon dilation and local steroid injection combined with surgical resection of gastrinomas.
    BMC Gastroenterol 2017 Mar 7;17(1):37. Epub 2017 Mar 7.
    Division of Endoscopy, Shizuoka Cancer Center, 1007, Shimonagakubo, Nagaizumi, Suntogun, Shizuoka, 411-8777, Japan.
    Background: In type 1 multiple endocrine neoplasia (MEN1), esophageal diseases association with excessive gastrin secretion in Zollinger-Ellison syndrome (ZES) sometimes develop. Here, we reported a case of MEN1/ZES, who developed dysphagia due to reflux esophagitis with severe esophageal stricture. Treatment for his esophageal stricture and ZES was discussed. Read More

    The Wandering Mesenteric Lymph Node: Delayed 68Ga-DOTANOC PET/CT Imaging to Overcome a Potential Pitfall.
    Clin Nucl Med 2017 May;42(5):e253-e254
    From the *Nuclear Medicine, and †Radiology, Sant'Orsola University Hospital, Bologna, Italy.
    A patient multiple endocrine neoplasia type 1 presenting with radiological suspicion of pancreatic neuroendocrine tumor relapse after surgical and somatostatin analog treatment underwent restaging Ga-DOTANOC PET/CT. Standard and delayed images detected an area of focal intense uptake moving from the left para-aortic to the paracaval region. The lesion was identified at previous imaging in different abdominal locations (eg, adjacent to the duodenal wall at presurgical PET and in the aortocaval region at restaging contrast-enhanced CT). Read More

    Long-term Follow-up of MEN1 Patients Who Do Not Have Initial Surgery for Small ≤2 cm Nonfunctioning Pancreatic Neuroendocrine Tumors, an AFCE and GTE Study: Association Francophone de Chirurgie Endocrinienne & Groupe d'Etude des Tumeurs Endocrines.
    Ann Surg 2017 Mar 15. Epub 2017 Mar 15.
    *Department of Thoracic and Endocrine Surgery, University Hospitals of Geneva and Faculty of Medicine of Geneva, Geneva, Switzerland †Department of General and Endocrine Surgery, University Hospital of Lille, Lille, France ‡Department of Endocrinology, University Hospital of Lille, Lille, France §Department of Digestive and Endocrine Surgery, University Hospital of Nantes, Nantes, France ¶Department of Endocrinology, University Hospital of Nantes, Nantes, France ||Department of Endocrine Surgery, La Conception University Hospital, Marseille, France **Institut Paoli-Calmettes, Marseille, France ††Department of Digestive and Endocrine Surgery, University Hospital of Reims, Reims, France ‡‡Department of Hepato-Gastroenterology and Digestive Oncology, University Hospital of Reims, Reims, France §§Department of Surgery, University Hospital of Lyon, Lyon, France ¶¶Department of Digestive and Endocrine Surgery, University Hospital of Lyon Sud and 2/EA 7425 HESPER, Health Services and Performance Research, University Claude Bernard Lyon 1, Lyon, France ||||Department of Endocrinology, Hospital Louis Pradel, University Lyon I, Lyon, France ***Department of Thoracic, Vascular and Endocrine Surgery, University Hospital of Grenoble, Grenoble, France †††Department of Endocrinology and Diabetology, University Hospital of Grenoble, Grenoble, France ‡‡‡Department of Digestive and Endocrine Surgery, University Hospital La Pitié Salpétrière, Paris, France §§§Department of Nuclear Medicine and Endocrine Oncology, Gustave Roussy, University of Paris Sud, Villejuif, France ¶¶¶Department of Gastroenterology and Pancreatology, Beaujon Hospital, University Paris 7, Clichy, France ||||||Department of Endocrinology, General Hospital of Chambéry, Chambéry, France ****Department of Endocrine Surgery, University Hospital of Dijon, and INSERM, U866, Epidemiology and Clinical Research in Digestive Oncology Team, and INSERM, CIC1432, Clinical Epidemiology Unit, University Hospital of Dijon, Clinical Investigation Center, Clinical Epidemiology/Clinical Trials Unit, Dijon, France.
    Objective: To report long-term follow-up of patients with multiple endocrine neoplasia type 1 (MEN1) and nonfunctioning pancreatic neuroendocrine tumors (NF-PET).

    Background: Pancreaticoduodenal tumors occur in almost all patients with MEN1 and are a major cause of death. The natural history and clinical outcome are poorly defined, and management is still controversial for small NF-PET. Read More

    Management of MEN1 Related Nonfunctioning Pancreatic NETs: A Shifting Paradigm: Results From the DutchMEN1 Study Group.
    Ann Surg 2017 Mar 2. Epub 2017 Mar 2.
    *Department of Endocrine Surgical Oncology and Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands †Imaging Division, University Medical Center Utrecht, Utrecht, The Netherlands ‡Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands §Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands ¶Department of Endocrinology, Radboud University Medical Center, Nijmegen, The Netherlands ||Departments of Endocrinology and Metabolism and Clinical Epidemiology, Leiden University Medical Center, Leiden, The Netherlands **Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands ††Department of Internal Medicine, Section of Endocrinology, VU University Medical Center, Amsterdam, The Netherlands ‡‡Department of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands §§Department of Internal Medicine, Division of Endocrinology, Maastricht University Medical Center, Maastricht, The Netherlands ¶¶Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
    Objective: To assess if surgery for Multiple Endocrine Neoplasia type 1 (MEN1) related nonfunctioning pancreatic neuroendocrine tumors (NF-pNETs) is effective for improving overall survival and preventing liver metastasis.

    Background: MEN1 leads to multiple early-onset NF-pNETs. The evidence base for guiding the difficult decision who and when to operate is meager. Read More

    Genetic confirmation that ependymoma can arise as part of multiple endocrine neoplasia type 1 (MEN1) syndrome.
    Acta Neuropathol 2017 Apr 25;133(4):661-663. Epub 2017 Feb 25.
    Division of Neuropathology, Department of Pathology, University of California, San Francisco, 513 Parnassus Ave, Health Sciences West 451, San Francisco, CA, 94143, USA.

    PROGNOSTIC FACTORS FOR SURVIVAL OF MEN1 PATIENTS WITH DUODENOPANCREATIC TUMORS METASTATIC TO THE LIVER: RESULTS FROM THE DMSG STUDY GROUP.
    Endocr Pract 2017 Feb 22. Epub 2017 Feb 22.
    From: 1Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht.
    Objective Duodenopancreatic neuroendocrine tumors (DP-NETs) develop in a majority of patients with Multiple Endocrine Neoplasia Type 1 (MEN1) and are the leading cause of death. Overall survival (OS) and prognostic factors for patients with liver metastases from DP-NETs are not known. Design and Methods Cohort study using the Dutch National MEN1 database, which includes >90% of the Dutch MEN1 population between 1990-2014. Read More

    B-mode and contrast-enhancement characteristics of small nonincidental neuroendocrine pancreatic tumors.
    Endosc Ultrasound 2017 Jan-Feb;6(1):49-54
    Medical Department, Caritas-Krankenhaus, Uhlandstr. 7 D-97980 Bad Mergentheim, Germany; Sino-German Research Center of Ultrasound in Medicine, The first Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
    Background And Objectives: Imaging of the pancreas for detection of neuroendocrine tumors is indicated as surveillance in multiple endocrine neoplasia type 1 (MEN1) or if typical clinical symptoms combined with hormone production raise the suspicion of a neuroendocrine tumor. Endoscopic ultrasound (EUS) is considered the best imaging modality to detect small pancreatic tumors. However, little is known about how small pancreatic neuroendocrine tumors (pNETs) present on EUS. Read More

    Foxa2, a novel protein partner of the tumour suppressor menin, is deregulated in mouse and human MEN1 glucagonomas.
    J Pathol 2017 May 27;242(1):90-101. Epub 2017 Mar 27.
    INSERM U1052, Lyon, France.
    Foxa2, known as one of the pioneer factors, plays a crucial role in islet development and endocrine functions. Its expression and biological functions are regulated by various factors, including, in particular, insulin and glucagon. However, its expression and biological role in adult pancreatic α-cells remain elusive. Read More

    Complicated Case Presentation: Management of Pancreatic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1.
    Pancreas 2017 Mar;46(3):416-426
    From the *Department of Internal Medicine, †Division of Hematology/Oncology, Department of Medicine, ‡Division of Endocrinology and Metabolism, Department of Medicine, and §Section of Surgical Oncology/Hepatopancreaticobiliary Surgery, Division of General Surgery, Department of Surgery, University of California, San Francisco, San Francisco, CA.
    Multiple endocrine neoplasia type 1 (MEN1) is an inherited predisposition to tumors of the parathyroid glands, anterior pituitary, and pancreatic islet cells. In this review, we discuss the clinical case of a 45-year-old woman with MEN1 that was presented at the 2015 North American Neuroendocrine Tumor Society Symposium. In our review of this patient's complicated clinical course and subsequent operative management, we highlight controversies in the diagnosis and management of pancreatic neuroendocrine tumors in MEN1. Read More

    Genetics of multiple endocrine neoplasia type 1 syndrome: what's new and what's old.
    F1000Res 2017 24;6. Epub 2017 Jan 24.
    EndOsMet Unit, Villa Donatello, Piazzale Donatello 2, Florence 50100, Italy; Hercolani Clinical Center, Via D'Azeglio 46, Bologna 40136, Italy.
    Despite its identification in 1997, the functions of the MEN1 gene-the main gene underlying multiple endocrine neoplasia type 1 syndrome-are not yet fully understood. In addition, unlike the RET-MEN2 causative gene-no hot-spot mutational areas or genotype-phenotype correlations have been identified. More than 1,300 MEN1 gene mutations have been reported and are mostly "private" (family specific). Read More

    Limited Value of Ga-68-DOTATOC-PET-CT in Routine Screening of Patients with Multiple Endocrine Neoplasia Type 1.
    World J Surg 2017 Jan 30. Epub 2017 Jan 30.
    Department of Visceral, Thoracic and Vascular Surgery, University Hospital of Giessen and Marburg, Philipps University of Marburg, Marburg, Germany.
    Background: Routine screening is recommended for patients with multiple endocrine neoplasia type 1 (MEN1) to enable early detection and treatment of associated neuroendocrine neoplasms (NEN). Gallium(68)-DOTATOC-Positron emission tomography combined with computed tomography (Ga-68-DOTATOC-PET-CT) is a very sensitive and specific imaging technique for the detection of sporadic neuroendocrine tumors. The present study evaluated the value of Ga-68-DOTATOC-PET-CT in routine screening of patients with MEN1. Read More

    Type 2 gastric neuroendocrine tumor: report of one case.
    Transl Gastroenterol Hepatol 2016 30;1:88. Epub 2016 Nov 30.
    Department of Integrative Oncology, China-Japan Friendship Hospital, Beijing 100029, China.
    In this article we reported a female patient with type 2 gastric neuroendocrine tumor (NET). The patient developed upper abdominal pain, acid reflux, heartburn, nausea, and vomiting without obvious cause 16 years ago. Later, a tumor was found in her stomach. Read More

    Metastatic multiple endocrine neoplasia type 1: report of one case.
    Transl Gastroenterol Hepatol 2016 23;1:73. Epub 2016 Sep 23.
    Department of Pancreatic Surgery, Zhongshan Hospital, Fudan University, Shanghai 200032, China.
    A 46-year-old Chinese woman was admitted to our hospital because of presence of space-occupying lesions in the liver for 2 months in April, 2015. She had a family history of multiple endocrine neoplasia type 1 (MEN1) and physical examination is unremarkable. Previously, she has performed surgery for primary pituitary tumor in 2002 and radiosurgery for its recurrence. Read More

    [Multiple Endocrine Neoplasia Type 1(MEN1)Presenting with Hypoglycemic Attacks - A Case Report].
    Gan To Kagaku Ryoho 2016 Nov;43(12):2196-2198
    Dept. of Surgery, Kobe Ekisaikai Hospital.
    A woman in her 60s visited our hospital because of frequent hypoglycemia and episodes of unconsciousness over the last 6 years. A 4 cm tumor was detected on the pancreatic tail using abdominal computed tomography and ultrasonography. An insulinoma was strongly suspected from the results of the fasting test and glucagon load test, and a distal pancreatectomy with splenectomy was performed. Read More

    Multiple endocrine neoplasia syndrome type 1: institution, management, and data analysis of a nationwide multicenter patient database.
    Endocrine 2017 Jan 28. Epub 2017 Jan 28.
    Department of Surgery and Translational Medicine, University of Florence, Largo Palagi 1, 50139, Florence, Italy.
    Objective: The aim of this study was to integrate European epidemiological data on patients with multiple endocrine neoplasia type 1 by creating an Italian registry of this syndrome, including clinical and genetic characteristics and therapeutic management.

    Methods: Clinical, familial and genetic data of patients with multiple endocrine neoplasia type 1, diagnosed, treated, and followed-up for a mean time of 11.3 years, in 14 Italian referral endocrinological centers, were collected, over a 3-year course (2011-2013), to build a national electronic database. Read More

    Loss of menin in osteoblast lineage affects osteocyte-osteoclast crosstalk causing osteoporosis.
    Cell Death Differ 2017 Apr 20;24(4):672-682. Epub 2017 Jan 20.
    Institute of Comparative Molecular Endocrinology, University of Ulm, Ulm D-89081, Germany.
    During osteoporosis bone formation by osteoblasts is reduced and/or bone resorption by osteoclasts is enhanced. Currently, only a few factors have been identified in the regulation of bone integrity by osteoblast-derived osteocytes. In this study, we show that specific disruption of menin, encoded by multiple endocrine neoplasia type 1 (Men1), in osteoblasts and osteocytes caused osteoporosis despite the preservation of osteoblast differentiation and the bone formation rate. Read More

    Lung adenocarcinoma and adrenocortical carcinoma in a patient with multiple endocrine neoplasia type 1.
    Respir Med Case Rep 2017 18;20:77-81. Epub 2016 Dec 18.
    Department of Internal Medicine, Ojiya General Hospital, Niigata, Japan; Center of Diabetes, Endocrinology and Metabolism, Joetsu General Hospital, Niigata, Japan.
    Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder caused by heterozygous germline mutations in the tumor suppressor gene MEN1, which encodes a nuclear protein, menin. MEN1 is characterized by the combined occurrence of tumors involving the pituitary gland, pancreatic islets, and parathyroid glands. Additionally, patients with MEN1 often exhibit adrenal tumors. Read More

    Assessing for Multiple Endocrine Neoplasia Type 1 in Patients Evaluated for Zollinger-Ellison Syndrome-Clues to a Safer Diagnostic Process.
    Am J Med 2017 May 21;130(5):603-605. Epub 2016 Dec 21.
    Division of Endocrinology, Diabetes and Metabolism, Department of Medicine, Mayo Clinic, Rochester, Minn. Electronic address:
    Background: Zollinger-Ellison syndrome is a rare cause of tumoral hypergastrinemia; 1 of 5 patients with this syndrome also has multiple endocrine neoplasia type 1. The diagnosis of this disease is complicated by the widespread use of proton pump inhibitors that can elevate serum gastrin levels, the cornerstone for biochemical diagnosis. Abrupt discontinuation of proton pump inhibitors could lead to adverse outcomes. Read More

    Upregulation of RPA2 promotes NF-κB activation in breast cancer by relieving the antagonistic function of menin on NF-κB-regulated transcription.
    Carcinogenesis 2017 Feb;38(2):196-206
    Department of Nutrition, College of Medicine and Nursing, Hung Kuang University, Taichung 43302, Taiwan.
    RPA2, a subunit of the heterotrimeric replication protein A (RPA) complex, is overexpressed in various cancers. In this study, we showed a significant RPA2 upregulation in breast cancer tissues and cell lines. Ectopic expression of RPA2 in MCF7 and MDA-MB-231 cells promoted cell proliferation, adhesion, migration and invasion, and induced epithelial-mesenchymal transition (EMT) of MCF7 cells. Read More

    Growth rate of small pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1: results from an endoscopic ultrasound based cohort study.
    Endoscopy 2017 Jan 14;49(1):27-34. Epub 2016 Dec 14.
    Department of Gastroenterology and Hepatology, University Medical Center Utrecht, Utrecht, The Netherlands.
    Background and aims In multiple endocrine neoplasia type 1 (MEN1), endoscopic ultrasound (EUS) is used for identification and follow-up of pancreatic neuroendocrine tumors (PNETs). The role of EUS in surveillance of small ( < 20 mm) PNETs is unclear, mostly because the natural course of these lesions is largely unknown. We aimed to determine annual growth and incidence rate of small PNETs in patients with MEN1 using EUS-based surveillance. Read More

    Childhood neuroendocrine tumours: a descriptive study revealing clues for genetic predisposition.
    Br J Cancer 2017 Jan 13;116(2):163-168. Epub 2016 Dec 13.
    Department of Human Genetics, Radboud University Medical Center and Radboud Institute for Molecular Life Sciences, Geert Grooteplein Zuid 10, Nijmegen 6525GA, The Netherlands.
    Background: Neuroendocrine tumours (NETs) are rare in children and limited data are available. We aimed to specify tumour and patient characteristics and to investigate the role of genetic predisposition in the aetiology of paediatric NETs.

    Methods: Using the Dutch Pathology Registry PALGA, we collected patient- and tumour data of paediatric NETs in the Netherlands between 1991 and 2013 (N=483). Read More

    [Intrathyroidal location of parathyroid glands. Atypical presentation of multiple endocrine neoplasia type 1 syndrome].
    Cir Cir 2016 Dec 9. Epub 2016 Dec 9.
    Cirugía General y del Aparato Digestivo A, Hospital Universitario 12 de Octubre, Madrid, España.
    Background: The most common manifestation of MEN 1 syndrome is primary hyperparathyroidism (PHPT) with parathyroid multiglandular affectation. The intrathyroidal situation represents 3-4% of all glands, and it is the second most frequent location in the cervical ectopias.

    Clinical Case: 11 year old patient, with a family history of MEN1 syndrome and carrier of this same mutation. Read More

    Genetic Syndromes Associated with Central Nervous System Tumors.
    Radiographics 2017 Jan-Feb;37(1):258-280. Epub 2016 Dec 2.
    From the Department of Diagnostic Radiology, University of Iowa Hospitals and Clinics, 200 Hawkins Dr, Iowa City, IA 52242.
    Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics. Read More

    Multiple endocrine neoplasia type 1 with anterior mediastinal parathyroid adenoma: successful localization using Tc-99m sestamibi SPECT/CT.
    Ann Surg Treat Res 2016 Dec 25;91(6):323-326. Epub 2016 Nov 25.
    Department of Surgery, Seoul St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
    The most common manifestation of multiple endocrine neoplasia type 1 (MEN1) is hyperparathyroidism. Treatment of hyperparathyroidism in MEN patients is surgical removal of the parathyroid glands, however ectopic parathyroid gland is challenging for treatment. A 51-year-old female, the eldest of 3 MEN1 sisters, had hyperparathyroidism with ectopic parathyroid adenoma in the mediastinal para-aortic region, which was detected by technetium-99m (Tc-99m) sestamibi scintigraphy and single-photon emission computed tomography/computed tomography (SPECT/CT). Read More

    [Study of Medullary Thyroid Carcinoma from a proband].
    Arch Argent Pediatr 2016 Dec;114(6):e421-e424
    Hospital Universitario Miguel Servet, Servicio de Endocrinología Pediátrica, Zaragoza, España.
    Thyroid cancer is an uncommon type of cancer, accounting less than 1% of all cancers in adults, and 0.5-3% of all cancers in children. There are four different types: papillary carcinoma (80-90% of cases), follicular (5-10%), medullary (5%) and anaplastic cell (2-3%). Read More

    Operation for insulinomas in multiple endocrine neoplasia type 1: When pancreatoduodenectomy is appropriate.
    Surgery 2017 Mar 15;161(3):727-734. Epub 2016 Nov 15.
    Department of Surgery and Translational Medicine, University of Florence, Florence, Italy.
    Background: Distal pancreatectomy is the most frequent operation for insulinomas complicating multiple endocrine neoplasia type 1 insulinoma, although there are conditions for which a different operative approach might be preferable. In this article, we report the operative experience of a referral center for multiple endocrine neoplasia type 1 insulinoma.

    Methods: Twelve patients underwent operations between 1992 and 2015: 8 underwent a distal pancreatic resection, and 4 underwent a pancreatoduodenectomy. Read More

    Clinical and Genetic Analysis of Multiple Endocrine Neoplasia Type 1-Related Primary Hyperparathyroidism in Chinese.
    PLoS One 2016 15;11(11):e0166634. Epub 2016 Nov 15.
    Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Chinese Academy of Medical Science & Peking Union Medical College, Beijing, People's Republic of China.
    Objective: Multiple endocrine neoplasia type 1-related primary hyperparathyroidism (MHPT) differs in many aspects from sporadic PHPT (SHPT). The aims of this study were to summarize the clinical features and genetic background of Chinese MHPT patients and compare the severity of the disease with those of SHPT.

    Design And Methods: A total of 40 MHPT (27 sporadic, 7 families) and 169 SHPT cases of Chinese descent were retrospectively analyzed. Read More

    Operative intervention for primary hyperparathyroidism offers greater bone recovery in patients with sporadic disease than in those with multiple endocrine neoplasia type 1-related hyperparathyroidism.
    Surgery 2017 Jan 11;161(1):107-115. Epub 2016 Nov 11.
    Department of Surgical Oncology, The University of Texas M. D. Anderson Cancer Center, Houston, TX. Electronic address:
    Background: We investigated whether the outcome of bone disease of primary hyperparathyroidism differs in multiple endocrine neoplasia type 1-associated disease and sporadic hyperparathyroidism at 1-year postoperatively.

    Methods: Multiple endocrine neoplasia type 1/hyperparathyroidism and sporadic hyperparathyroidism patients who underwent parathyroidectomy from 1990 to 2013 and dual-energy x-ray absorptiometry at baseline and 1-year postoperatively were included. Preoperative and postoperative dual-energy x-ray absorptiometry measurements (bone mineral density and Z-score at the lumbar spine, total hip, and femoral neck) were analyzed. Read More

    MEN1 redefined, a clinical comparison of mutation-positive and mutation-negative patients.
    BMC Med 2016 Nov 15;14(1):182. Epub 2016 Nov 15.
    Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, The Netherlands.
    Background: Multiple Endocrine Neoplasia type 1 (MEN1) is diagnosed when two out of the three primary MEN1-associated endocrine tumors occur in a patient. Up to 10-30 % of those patients have no mutation in the MEN1 gene. It is unclear if the phenotype and course of the disease of mutation-negative patients is comparable with mutation-positive patients and if these patients have true MEN1. Read More

    Early and Late Complications After Surgery For MEN1-related Nonfunctioning Pancreatic Neuroendocrine Tumors.
    Ann Surg 2016 Nov 1. Epub 2016 Nov 1.
    *Department of Endocrine Surgical Oncology and Endocrine Oncology, University Medical Center Utrecht, Utrecht, the Netherlands †Department of Surgical Oncology and Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, the Netherlands ‡Imaging Division, University Medical Center Utrecht, Utrecht, the Netherlands §Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands ¶Department of Surgery, Erasmus Medical Center, Rotterdam, the Netherlands ||Department of Surgery, Radboud University Medical Center, Nijmegen, the Netherlands **Department of Hepato-Pancreatico-Biliary and Liver Transplantation, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands ††Department of Surgery, VU University Medical Center, Amsterdam, the Netherlands ‡‡Department of Surgery, Academic Medical Center, Amsterdam, the Netherlands §§Department of Surgery, Maastricht University Medical Center, Maastricht, the Netherlands ¶¶Department of Endocrine Oncology, University Medical Center Utrecht, Utrecht, the Netherlands ||||Department of Endocrine Surgical Oncology, University Medical Center Utrecht, Utrecht, the Netherlands.
    Objective: To estimate short and long-term morbidity after pancreatic surgery for multiple endocrine neoplasia type 1 (MEN1)-related nonfunctioning pancreatic neuroendocrine tumors (NF-pNETs).

    Background: Fifty percent of the MEN1 patients harbor multiple NF-pNETs. The decision to proceed to NF-pNET surgery is a balance between the risk of disease progression versus the risk of surgery-related morbidity. Read More

    [The expression of p27(Kip1) and β-catenin in multiple endocrine neoplasia type 1-related parathyroid tumors].
    Zhonghua Nei Ke Za Zhi 2016 Nov;55(11):859-862
    Department of Endocrinology, Key Laboratory of Endocrinology, National Health and Family Planning Commission, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
    Objective: To explore tissue expression of cyclin-dependent kinase inhibitor p27(Kip1) and β-catenin in multiple endocrine neoplasia type1 (MEN1)-related parathyroid tumors (MHPT). Methods: Immunohistochemistry was performed to analyze the expression of p27(Kip1) and β-catenin in parathyroid glands from 31 subjects with MHPT collected at Peking Union Medical College Hospital from 2002 to 2013. Five normal parathyroid glands were used as control. Read More

    Pituitary tumors in MEN1: do not be misled by borderline elevated prolactin levels.
    Pituitary 2016 Dec;19(6):601-604
    Division of Endocrinology Metabolism and Molecular Medicine, Northwestern University Feinberg School of Medicine, 645 N. Michigan Avenue, Suite 530, Chicago, IL, 60611, USA.
    Purpose: The objective of this case report is to demonstrate that the simple expedient of measuring periodic prolactin levels in patients with MEN1 who have modest hyperprolactinemia and normal pituitary MRI scans is insufficient to monitor for the development of pituitary adenomas.

    Methods: Review of relevant literature and chart review.

    Results: A 25 year old man with known MEN1 manifested by hyperparathyroidism and a gastrin-producing neuroendocrine tumor was found to have a prolactin [PRL] level of 20. Read More

    Fluorine-18 fluorocholine PET-CT localizes hyperparathyroidism in patients with inconclusive conventional imaging: a multicenter study from the Netherlands.
    Nucl Med Commun 2016 Dec;37(12):1246-1252
    Departments of aSurgery bInternal Medicine cNuclear Medicine, University Medical Center Utrecht dDepartment of Surgery, Diakonessenhuis Hospital Utrecht, Utrecht eDepartment of Nuclear Medicine, Meander Medical Centre, Amersfoort, The Netherlands.
    Background: Several reports have shown good performance of fluorine-18 fluorocholine (F-FCH) PET-computed tomography (CT) for parathyroid localization, although overall evidence remains scarce. We collected data from three institutions in the Netherlands and investigated the performance of F-FCH PET-CT as a second-line imaging modality.

    Materials And Methods: We performed a retrospective review of all patients at least 18 years who underwent F-FCH PET-CT for biochemically proven hyperparathyroidism (HPT) and inconclusive ultrasound and sestamibi scintigraphy. Read More

    Long-term outcomes in patients with multiple endocrine neoplasia type 1 and pancreaticoduodenal neuroendocrine tumours.
    Clin Endocrinol (Oxf) 2017 Feb 17;86(2):199-206. Epub 2016 Nov 17.
    Division of Endocrinology, Diabetes, Metabolism and Nutrition, Mayo Clinic, Rochester, MN, USA.
    Background: In patients with multiple endocrine neoplasia type 1 (MEN-1), pancreaticoduodenal (PD) neuroendocrine tumours (NETs) are associated with early mortality, yet the best treatment strategy remains uncertain.

    Aim: To assess patient important outcomes (mortality and metastasis) of PD-NETs and predictors of outcomes in patients with MEN-1.

    Methods: Retrospective cohort of patients with MEN-1 who attended the Mayo Clinic, Rochester, MN from 1997 to 2014. Read More

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