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https://www.readbyqxmd.com/read/28329921/neuroendocrine-tumors-in-the-stomach-duodenum-and-pancreas-accompanied-by-novel-men1-gene-mutation
#1
Min A Yang, Woong Ki Lee, Hong Shik Shin, Sung Hyun Park, Byung Sun Kim, Ji Woong Kim, Jin Woong Cho, So Hee Yun
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. Five years prior to his visit, he had undergone surgery for incidental meningioma. His brother had pancreatic nodules and a history of surgery for adrenal adenoma...
March 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28321559/is-routine-screening-of-young-asymptomatic-men1-patients-necessary
#2
Jerena Manoharan, Friedhelm Raue, Caroline L Lopez, Max B Albers, Carmen Bollmann, Volker Fendrich, Emily P Slater, Detlef K Bartsch
BACKGROUND: Recent clinical practice guidelines recommend that routine screening of MEN1 mutation carriers should start at the age of 5 years. The occurrence of clinically relevant MEN1 organ manifestations in children (≤18 years) was evaluated. METHODS: Two prospective collected databases of MEN1 patients (n = 166) who underwent annual screening were retrospectively analyzed for organ manifestations in MEN1 patients ≤18 years. The follow-up was based on the most recent screening examination until December 2015...
March 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28323985/utility-of-fdg-pet-imaging-for-risk-stratification-of-pancreatic-neuroendocrine-tumours-in-men-1
#3
E R Kornaczewski Jackson, O P Pointon, R Bohmer, J R Burgess
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. Design: Retrospective observational study...
March 7, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28323962/men1-dependent-breast-cancer-indication-for-early-screening-results-from-the-dutch-men1-study-group
#4
Rachel S van Leeuwaarde, Koen Dreijerink, Margreet G Ausems, Hanneke J Beijers, Olaf M Dekkers, Wouter W de Herder, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Petra H M Peeters, Ruud M Pijnappel, Menno R Vriens, Gerlof D Valk
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. Design: A cross-sectional case control study was performed using the Dutch MEN1 cohort, including >90% of the Dutch MEN1 population of 18 years and older...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28298337/radiological-surveillance-in-multiple-endocrine-neoplasia-type-1-a-double-edged-sword
#5
Ruth Therese Casey, Deborah Saunders, Ben George Challis, Deborah Pitfield, Heok Cheow, Ashley Shaw, Helen Lisa Simpson
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. Whilst 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...
March 15, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28273452/enhancer-mediated-oncogenic-function-of-the-menin-tumor-suppressor-in-breast-cancer
#6
Koen M A Dreijerink, Anna C Groner, Erica S M Vos, Alba Font-Tello, Lei Gu, David Chi, Jaime Reyes, Jennifer Cook, Elgene Lim, Charles Y Lin, Wouter de Laat, Prakash K Rao, Henry W Long, Myles Brown
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. Our analysis revealed that menin-dependent target gene promoters display looping to distal enhancers that are bound by menin, FOXA1 and GATA3. In this fashion, MEN1 co-regulates a proliferative breast cancer-specific gene expression program in ER(+) cells...
March 7, 2017: Cell Reports
https://www.readbyqxmd.com/read/28273369/is-estrogen-exposure-a-protective-factor-for-pancreatic-neuroendocrine-tumors-in-female-multiple-endocrine-neoplasia-syndrome-type-1-patients
#7
Wei Qiu, Ioannis Christakis, Ashley A Stewart, Danica M Vodopivec, Angelica Silva-Figueroa, Huiqin Chen, Terri L Woodard, Daniel M Halperin, Jeffrey E Lee, James C Yao, Nancy D Perrier
OBJECTIVE: Pancreatic neuroendocrine tumors (PNETs) are the most common cause of death in multiple endocrine neoplasia type 1 (MEN1) patients. 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 tumorigenesis, tumor growth, and survival in female MEN1 patients with these tumors. DESIGN: We performed a retrospective chart review of the existing MEN1 database in our institution...
March 8, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28270438/menin-and-prmt5-suppress-glp1-receptor-transcript-and-pka-mediated-phosphorylation-of-foxo1-and-creb
#8
Abdul Bari Muhammad, Bowen Xing, Chengyang Liu, Ali Naji, Xiaosong Ma, Rebecca A Simmons, Xianxin Hua
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. However, it is not clearly understood whether menin crosstalks with GLP1 signaling...
March 7, 2017: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28270118/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
#9
Hiroyuki Matsubayashi, Noboru Kawata, Naomi Kakushima, Masaki Tanaka, Kohei Takizawa, Yoshimi Kiyozumi, Yasue Horiuchi, Keiko Sasaki, Teiichi Sugiura, Katsuhiko Uesaka, Hiroyuki Ono
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. CASE PRESENTATION: A 43-year-old man with progressive dysphagia and diarrhea was referred to the teaching hospital...
March 7, 2017: BMC Gastroenterology
https://www.readbyqxmd.com/read/28263205/long-term-follow-up-of-men1-patients-who-do-not-have-initial-surgery-for-small-%C3%A2-2-cm-nonfunctioning-pancreatic-neuroendocrine-tumors-an-afce-and-gte-study-association-francophone-de-chirurgie-endocrinienne-groupe-d-etude-des-tumeurs-endocrines
#10
Frederic Triponez, Samira M Sadowski, François Pattou, Catherine Cardot-Bauters, Eric Mirallié, Maëlle Le Bras, Frédéric Sebag, Patricia Niccoli, Sophie Deguelte, Guillaume Cadiot, Gilles Poncet, Jean-Christophe Lifante, Françoise Borson-Chazot, Philippe Chaffanjon, Olivier Chabre, Fabrice Menegaux, Eric Baudin, Philippe Ruszniewski, Hélène Du Boullay, Pierre Goudet
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. METHODS: Clinical outcome and tumor progression were analyzed in 46 patients with MEN1 with 2 cm or smaller NF-PET who did not have surgery at the time of initial diagnosis...
March 15, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28257328/management-of-men1-related-nonfunctioning-pancreatic-nets-a-shifting-paradigm-results-from-the-dutchmen1-study-group
#11
Sjoerd Nell, Helena M Verkooijen, Carolina R C Pieterman, Wouter W de Herder, Ad R Hermus, Olaf M Dekkers, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Inne H M Borel Rinkes, Menno R Vriens, Gerlof D Valk
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. METHODS: MEN1 patients diagnosed with NF-pNETs between 1990 and 2014 were selected from the DutchMEN1 Study Group database, including > 90% of the Dutch MEN1 population...
March 2, 2017: Annals of Surgery
https://www.readbyqxmd.com/read/28254159/surveillance-strategy-for-small-asymptomatic-non-functional-pancreatic-neuroendocrine-tumors-a-systematic-review-and-meta-analysis
#12
REVIEW
Ville Sallinen, Tessa Y S Le Large, Shamil Galeev, Zahar Kovalenko, Elke Tieftrunk, Raphael Araujo, Güralp O Ceyhan, Sebastien Gaujoux
BACKGROUND: Non-functional pancreatic neuroendocrine tumors (NF-PNET) are rare neoplasms being increasingly diagnosed. Surgical treatment or expectant management are both suggested for small NF-PNETs. The aim of this study was to evaluate the outcome of surveillance strategy for small NF-PNETs. METHODS: A systematic search was performed up to March 2016 in MEDLINE, EMBASE and the Cochrane Library according to the PRISMA guidelines. Data was pooled using the random-effects model...
February 18, 2017: HPB: the Official Journal of the International Hepato Pancreato Biliary Association
https://www.readbyqxmd.com/read/28225311/prognostic-factors-for-survival-of-men1-patients-with-duodenopancreatic-tumors-metastatic-to-the-liver-results-from-the-dmsg-study-group
#13
Elfi B Conemans, Sjoerd Nell, Carolina R C Pieterman, Wouter W de Herder, Olaf M Dekkers, Ad R Hermus, Anouk N van der Horst-Schrivers, Peter H Bisschop, Bas Havekes, Madeleine L Drent, Menno R Vriens, Gerlof D Valk
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. OS was assessed with time to event analysis, and prognostic factors were evaluated...
February 22, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28220018/germline-variants-in-familial-pituitary-tumour-syndrome-genes-are-common-in-young-patients-and-families-with-additional-endocrine-tumours
#14
Sunita Mc De Sousa, Mark J McCabe, Kathy Wu, Tony Roscioli, Velimir Gayevskiy, Katelyn Brook, Lesley Rawlings, Hamish S Scott, Tanya J Thompson, Peter Earls, Anthony J Gill, Mark J Cowley, Marcel E Dinger, Ann I McCormack
Objective: Familial pituitary tumour syndromes (FPTS) account for 5% of pituitary adenomas. Multi-gene analysis via next generation sequencing (NGS) may unveil greater prevalence and inform clinical care. We aimed to identify germline variants in selected patients with pituitary adenomas using a targeted NGS panel. Design: We undertook a nation-wide cross-sectional study of patients with pituitary adenomas with onset ≤40 years of age and/or other personal/family history of endocrine neoplasia. A custom NGS panel was performed on germline DNA to interrogate eight FPTS genes...
February 20, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28218201/b-mode-and-contrast-enhancement-characteristics-of-small-nonincidental-neuroendocrine-pancreatic-tumors
#15
Barbara Braden, Christian Jenssen, Mirko D'Onofrio, Michael Hocke, Uwe Will, Kathleen Möller, Andre Ignee, Yi Dong, Xin-Wu Cui, Adrian Sãftoiu, Christoph F Dietrich
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. PATIENTS AND METHODS: In this multicenter study, we retrospectively analyzed the endosonographic characteristics of small pNETs which had been detected due to typical biochemistry and clinical symptoms or during surveillance of MEN 1...
January 2017: Endoscopic Ultrasound
https://www.readbyqxmd.com/read/28217023/metabolic-bone-disease-in-the-context-of-metastatic-neuroendocrine-tumor-differentiation-from-skeletal-metastasis-the-molecular-pet-ct-imaging-features-and-exploring-the-possible-etiopathologies-including-parathyroid-adenoma-men1-and-paraneoplastic-humoral
#16
Rohit Ranade, Sandip Basu
Three cases of metabolic bone disease in the setting of metastatic neuroendocrine tumor (NET) are illustrated with associated etiopathologies.  One of these cases harbored mixed lesions in the form of vertebral metastasis (biopsy proven) while the other skeletal lesions were caused due to metabolic bone disease related to multiple parathyroid adenomas. While the metastatic lesion was positive on 68Ga-DOTATATE positron emission tomography-computed tomography (PET-CT), the lesions of metabolic bone disease were negative and the 18F-fluoride PET-CT demonstrated the features of metabolic bone scan...
January 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28215965/menin-regulates-inhbb-expression-through-an-akt-ezh2-mediated-h3k27-histone-modification
#17
Samuele Gherardi, Doriane Ripoche, Ivan Mikaelian, Marie Chanal, Romain Teinturier, Delphine Goehrig, Martine Cordier-Bussat, Chang X Zhang, Ana Hennino, Philippe Bertolino
Although Men1 is a well-known tumour suppressor gene, little is known about the functions of Menin, the protein it encodes for. Since few years, numerous publications support a major role of Menin in the control of epigenetics gene regulation. While Menin interaction with MLL complex favours transcriptional activation of target genes through H3K4me3 marks, Menin also represses gene expression via mechanisms involving the Polycomb repressing complex (PRC). Interestingly, Ezh2, the PRC-methyltransferase that catalyses H3K27me3 repressive marks and Menin have been shown to co-occupy a large number of promoters...
February 12, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28203045/a-novel-men1-mutation-in-a-japanese-adolescent-with-multiple-endocrine-neoplasia-type-1
#18
Masatsune Itoh, Yutaka Saikawa
No abstract text is available yet for this article.
January 2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28199314/whole-genome-landscape-of-pancreatic-neuroendocrine-tumours
#19
Aldo Scarpa, David K Chang, Katia Nones, Vincenzo Corbo, Ann-Marie Patch, Peter Bailey, Rita T Lawlor, Amber L Johns, David K Miller, Andrea Mafficini, Borislav Rusev, Maria Scardoni, Davide Antonello, Stefano Barbi, Katarzyna O Sikora, Sara Cingarlini, Caterina Vicentini, Skye McKay, Michael C J Quinn, Timothy J C Bruxner, Angelika N Christ, Ivon Harliwong, Senel Idrisoglu, Suzanne McLean, Craig Nourse, Ehsan Nourbakhsh, Peter J Wilson, Matthew J Anderson, J Lynn Fink, Felicity Newell, Nick Waddell, Oliver Holmes, Stephen H Kazakoff, Conrad Leonard, Scott Wood, Qinying Xu, Shivashankar Hiriyur Nagaraj, Eliana Amato, Irene Dalai, Samantha Bersani, Ivana Cataldo, Angelo P Dei Tos, Paola Capelli, Maria Vittoria Davì, Luca Landoni, Anna Malpaga, Marco Miotto, Vicki L J Whitehall, Barbara A Leggett, Janelle L Harris, Jonathan Harris, Marc D Jones, Jeremy Humphris, Lorraine A Chantrill, Venessa Chin, Adnan M Nagrial, Marina Pajic, Christopher J Scarlett, Andreia Pinho, Ilse Rooman, Christopher Toon, Jianmin Wu, Mark Pinese, Mark Cowley, Andrew Barbour, Amanda Mawson, Emily S Humphrey, Emily K Colvin, Angela Chou, Jessica A Lovell, Nigel B Jamieson, Fraser Duthie, Marie-Claude Gingras, William E Fisher, Rebecca A Dagg, Loretta M S Lau, Michael Lee, Hilda A Pickett, Roger R Reddel, Jaswinder S Samra, James G Kench, Neil D Merrett, Krishna Epari, Nam Q Nguyen, Nikolajs Zeps, Massimo Falconi, Michele Simbolo, Giovanni Butturini, George Van Buren, Stefano Partelli, Matteo Fassan, Kum Kum Khanna, Anthony J Gill, David A Wheeler, Richard A Gibbs, Elizabeth A Musgrove, Claudio Bassi, Giampaolo Tortora, Paolo Pederzoli, John V Pearson, Nicola Waddell, Andrew V Biankin, Sean M Grimmond
The diagnosis of pancreatic neuroendocrine tumours (PanNETs) is increasing owing to more sensitive detection methods, and this increase is creating challenges for clinical management. We performed whole-genome sequencing of 102 primary PanNETs and defined the genomic events that characterize their pathogenesis. Here we describe the mutational signatures they harbour, including a deficiency in G:C > T:A base excision repair due to inactivation of MUTYH, which encodes a DNA glycosylase. Clinically sporadic PanNETs contain a larger-than-expected proportion of germline mutations, including previously unreported mutations in the DNA repair genes MUTYH, CHEK2 and BRCA2...
February 15, 2017: Nature
https://www.readbyqxmd.com/read/28188614/foxa2-a-novel-protein-partner-of-tumour-suppressor-menin-is-deregulated-in-mouse-and-human-men1-glucagonomas
#20
Rémy Bonnavion, Romain Teinturier, Samuele Gherardi, Emmanuelle Leteurtre, Run Yu, Martine Cordier-Bussat, Rui Du, François Pattou, Marie-Christine Vantyghem, Philippe Bertolino, Jieli Lu, Chang Xian Zhang
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 the adult pancreatic α-cells remain elusive. In the current study, we showed that Foxa2 was overexpressed in islets from α-cell-specific Men1 mutant mice, both at the transcriptional and protein levels. More importantly, immunostaining analyses detected its prominent nuclear accumulation, specifically in α-cells, at a very early stage after Men1-disruption...
February 11, 2017: Journal of Pathology
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