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https://www.readbyqxmd.com/read/28203045/a-novel-men1-mutation-in-a-japanese-adolescent-with-multiple-endocrine-neoplasia-type-1
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28188377/-neuroendocrine-neoplasia-of-the-stomach-what-is-new
#4
T Knösel, C Reiter, G Schubert-Fritschle, A Altendorf-Hofmann, T Kirchner
INTRODUCTION: Neuroendocrine Neoplasms are classified according to the new WHO classification in (1.) well differentiated neuroendocrine tumors G1 (NET G1, Ki67 ≤ 2 or mitosis count <2) and (2.) well differentiated neuroendocrine tumors G2 (NET G2, Ki67 3-20 or mitosis count 2-20) and (3.) poorly differentiated neuroendocrine carcinomas G3 (NEC G3, Ki67 > 20 or mitosis count >20). MATERIAL AND METHODS: In this study 310 NENs of the Ludwig-Maximilians-University in Munich were reevaluated according to the new WHO classification...
February 10, 2017: Der Pathologe
https://www.readbyqxmd.com/read/28187108/complicated-case-presentation-management-of-pancreatic-neuroendocrine-tumors-in-multiple-endocrine-neoplasia-type-1
#5
Claire K Mulvey, Katherine Van Loon, Emily K Bergsland, Umesh Masharani, Eric K Nakakura
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...
March 2017: Pancreas
https://www.readbyqxmd.com/read/28186096/spitz-nevi-and-spitzoid-melanomas-exome-sequencing-and-comparison-with-conventional-melanocytic-nevi-and-melanomas
#6
Rossitza Lazova, Natapol Pornputtapong, Ruth Halaban, Marcus Bosenberg, Yalai Bai, Hao Chai, Michael Krauthammer
We performed exome sequencing of 77 melanocytic specimens composed of Spitz nevi (n=29), Spitzoid melanomas (n=27), and benign melanocytic nevi (n=21), and compared the results with published melanoma sequencing data. Our study highlights the prominent similarity between Spitzoid and conventional melanomas with similar copy number changes and high and equal numbers of ultraviolet-induced coding mutations affecting similar driver genes. Mutations in MEN1, PRKAR1A, and DNMT3A in Spitzoid melanomas may indicate involvement of the protein kinase A pathway, or a role of DNA methylation in the disease...
February 10, 2017: Modern Pathology: An Official Journal of the United States and Canadian Academy of Pathology, Inc
https://www.readbyqxmd.com/read/28184288/genetics-of-multiple-endocrine-neoplasia-type-1-syndrome-what-s-new-and-what-s-old
#7
REVIEW
Alberto Falchetti
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). Even when mutations are shared at an intra- or inter-familial level, the spectrum of clinical presentation is highly variable, even in identical twins...
2017: F1000Research
https://www.readbyqxmd.com/read/28179320/detection-of-somatic-mutations-in-gastroenteropancreatic-neuroendocrine-tumors-using-targeted-deep-sequencing
#8
Samuel Backman, Olov Norlén, Barbro Eriksson, Britt Skogseid, Peter Stålberg, Joakim Crona
: Mutations affecting the mechanistic target of rapamycin (MTOR) signalling pathway are frequent in human cancer and have been identified in up to 15% of pancreatic neuroendocrine tumours (NETs). Grade A evidence supports the efficacy of MTOR inhibition with everolimus in pancreatic NETs. Although a significant proportion of patients experience disease stabilization, only a minority will show objective tumour responses. It has been proposed that genomic mutations resulting in activation of MTOR signalling could be used to predict sensitivity to everolimus...
2017: Anticancer Research
https://www.readbyqxmd.com/read/28178646/menin-mediates-tat-induced-neuronal-apoptosis-in-brain-frontal-cortex-of-siv-infected-macaques-and-in-tat-treated-cells
#9
Jun Wang, Yu Zhang, Qiping Xu, Jinhua Qiu, Honghua Zheng, Xiang Ye, Yuhua Xue, Yongmei Yin, Zhou Zhang, Ying Liu, Yanling Hao, Qiang Wei, Wei Wang, Kazuyasu Mori, Shuji Izumo, Ryuji Kubota, Yiming Shao, Hui Qin Xing
The molecular mechanisms involved in human immunodeficiency virus (HIV)-associated neurocognitive disorder (HAND) remain poorly understood. It has been recently reported that HIV-1 Tat transactivation requires menin, suggesting that menin may be involved in HAND pathogenesis. But the role of menin is not clear. Here, we found that protein level of menin was increased in simian-human immunodeficiency chimeric virus (SHIV)-SF162.P4 and simian immunodeficiency virus (SIV) sm543-3-infected rhesus macaques compared with the controls by immunohistochemistry (IHC) and western blot...
February 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28138732/limited-value-of-ga-68-dotatoc-pet-ct-in-routine-screening-of-patients-with-multiple-endocrine-neoplasia-type-1
#10
Max B Albers, Damiano Librizzi, Caroline L Lopez, Jerena Manoharan, Jonas C Apitzsch, Emily P Slater, Carmen Bollmann, Peter H Kann, Detlef K Bartsch
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...
January 30, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28133267/-multiple-endocrine-neoplasia-type-1-men1-presenting-with-hypoglycemic-attacks-a-case-report
#11
Yusuke Okubo, Takeshi Tono, Maki Fukamizu, Yasuhito Kawasaki, Koji Shinozaki, Takaaki Ishii, Tomohiro Katayama, Yumiko Yamauchi, Hideaki Fukamizu, Takashi Tominaga, Shuho Senba, Seiji Yasuda, Minoru Otsuru
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. Pathological examination indicated an insulinoma and neuroendocrine tumor(NET)G2 based on the WHO 2010 classification. The patient's blood sugar and insulin levels returned to normal, and hypoglycemic attacks disappeared postoperatively...
November 2016: Gan to Kagaku Ryoho. Cancer & Chemotherapy
https://www.readbyqxmd.com/read/28132167/multiple-endocrine-neoplasia-syndrome-type-1-institution-management-and-data-analysis-of-a-nationwide-multicenter-patient-database
#12
Francesca Giusti, Luisella Cianferotti, Francesca Boaretto, Filomena Cetani, Federica Cioppi, Annamaria Colao, Maria Vittoria Davì, Antongiulio Faggiano, Giuseppe Fanciulli, Piero Ferolla, Diego Ferone, Caterina Fossi, Francesco Giudici, Giorgio Gronchi, Paola Loli, Franco Mantero, Claudio Marcocci, Francesca Marini, Laura Masi, Giuseppe Opocher, Paolo Beck-Peccoz, Luca Persani, Alfredo Scillitani, Giovanna Sciortino, Anna Spada, Paola Tomassetti, Francesco Tonelli, Maria Luisa Brandi
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...
January 28, 2017: Endocrine
https://www.readbyqxmd.com/read/28130400/genome-wide-analyses-identifies-men1-and-max-mutations-and-a-neuroendocrine-like-molecular-heterogeneity-in-quadruple-wt-gist
#13
Maria A Pantaleo, Milena Urbini, Valentina Indio, Gloria Ravegnini, Margherita Nannini, Matilde De Luca, Giuseppe Tarantino, Sabrina Angelini, Alessandro Gronchi, Bruno Vincenzi, Giovanni Grignani, Chiara Colombo, Elena Fumagalli, Lidia Gatto, Maristella Saponara, Manuela Ianni, Paola Paterini, Donatella Santini, Maria Giulia Pirini, Claudio Ceccarelli, Annalisa Altimari, Elisa Gruppioni, Salvatore L Renne, Paola Collini, Silvia Stacchiotti, Giovanni Brandi, Paolo G Casali, Antonio D Pinna, Annalisa Astolfi, Guido Biasco
: Quadruple wild-type (WT) gastrointestinal stromal tumors (GIST) is a genomic subgroup lacking KIT/PDGFRA/RAS pathways mutations, with an intact succinate dehydrogenase (SDH) complex. The aim of this work is to perform a wide comprehensive genomic study on quadruple WT GIST to improve the characterization of these patients. We selected 14 clinical cases of quadruple WT GIST, of which nine cases showed sufficient DNA quality for Whole Exome Sequencing (WES). NF1 alterations were identified directly by WES...
January 27, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28126478/gene-signature-associated-with-upregulation-of-the-wnt-%C3%AE-catenin-signaling-pathway-predicts-tumor-response-to-transarterial-embolization
#14
Etay Ziv, Hooman Yarmohammadi, F Edward Boas, Elena Nadia Petre, Karen T Brown, Stephen B Solomon, David Solit, Diane Reidy, Joseph P Erinjeri
PURPOSE: To identify gene mutations in tumors undergoing transarterial embolization and explore the relationship between gene mutations and tumor response to embolization. MATERIALS AND METHODS: This was a retrospective review that included 17 patients with primary or metastatic liver tumors treated with embolization and had specimens analyzed for a 341-gene panel next-generation sequence assay. Pathologic conditions included hepatocellular, carcinoid, pancreatic neuroendocrine, melanoma, medullary thyroid, and liver acinar-cell carcinoma...
January 23, 2017: Journal of Vascular and Interventional Radiology: JVIR
https://www.readbyqxmd.com/read/28110695/men1-and-micrornas-the-link-between-sporadic-pituitary-parathyroid-and-adrenocortical-tumors
#15
Z Nagy, P M Szabó, V K Grolmusz, P Perge, I Igaz, A Patócs, P Igaz
Sporadic tumors of the pituitary, parathyroids and adrenal cortex are unique, as their benign forms are very common, but malignant forms are exceptionally rare. Hereditary forms of these tumors occur in multiple endocrine neoplasia syndrome type 1 (MEN1). We hypothesize that the pathogenic link among the sporadic tumors of these organs of different germ layers might be represented by common molecular pathways involving the MEN1 gene and microRNAs (miR). miR-24 might be a microRNA linking the three tumor entities, but other candidates such as miR-142-3p and microRNAs forming the DLK1-MEG3 miRNA cluster might also be of importance...
February 2017: Medical Hypotheses
https://www.readbyqxmd.com/read/28106886/loss-of-menin-in-osteoblast-lineage-affects-osteocyte-osteoclast-crosstalk-causing-osteoporosis
#16
Peng Liu, Sooyeon Lee, Jeanette Knoll, Alexander Rauch, Susanne Ostermay, Julia Luther, Nicole Malkusch, Ulf H Lerner, Mario M Zaiss, Mona Neven, Rainer Wittig, Martina Rauner, Jean-Pierre David, Philippe Bertolino, Chang X Zhang, Jan P Tuckermann
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. Instead, an increase in osteoclast numbers and bone resorption was detected that persisted even when the deletion of Men1 was restricted to osteocytes...
January 20, 2017: Cell Death and Differentiation
https://www.readbyqxmd.com/read/28098761/pancreatic-neuroendocrine-neoplasms-basic-biology-current-treatment-strategies-and-prospects-for-the-future
#17
REVIEW
Akihiro Ohmoto, Hirofumi Rokutan, Shinichi Yachida
Pancreatic neuroendocrine neoplasms (pNENs) are rare tumors accounting for only 1%-2% of all pancreatic tumors. pNENs are pathologically heterogeneous and are categorized into three groups (neuroendocrine tumor: NET G1, NET G2; and neuroendocrine carcinoma: NEC) on the basis of the Ki-67 proliferation index and the mitotic count according to the 2010 World Health Organization (WHO) classification of gastroenteropancreatic NENs. NEC in this classification includes both histologically well-differentiated and poorly differentiated subtypes, and modification of the WHO 2010 classification is under discussion based on genetic and clinical data...
January 13, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28087162/mir-24-inhibition-increases-menin-expression-and-decreases-cholangiocarcinoma-proliferation
#18
Laurent Ehrlich, Chad Hall, Julie Venter, David Dostal, Francesca Bernuzzi, Pietro Invernizzi, Fanyin Meng, Jerome P Trzeciakowski, Tianhao Zhou, Holly Standeford, Gianfranco Alpini, Terry C Lairmore, Shannon Glaser
Menin (MEN1) is a tumor-suppressor protein in neuroendocrine tissue. Because cholangiocytes can take on a neuroendocrine phenotype, we tested the novel hypothesis that menin regulates cholangiocarcinoma proliferation. Menin and miR-24 expression levels were measured in the following intrahepatic and extrahepatic cholangiocarcinoma (CCA) cell lines, Mz-ChA-1, TFK-1, SG231, CCLP, HuCCT-1, and HuH-28, as well as the nonmalignant human intrahepatic biliary line, H69. miR-24 miRNA and menin protein levels were manipulated in vitro in Mz-ChA-1 cell lines...
January 10, 2017: American Journal of Pathology
https://www.readbyqxmd.com/read/28079577/transdifferentiation-of-neuroendocrine-cells-gangliocytoma-associated-with-two-pituitary-adenomas-of-different-lineage-in-men1
#19
Camille Sergeant, Christel Jublanc, Delphine Leclercq, Anne-Laure Boch, Franck Bielle, Gerald Raverot, Adrian F Daly, Jacqueline Trouillas, Chiara Villa
Gangliocytomas are rare and benign neuronal cell tumors, mostly found in the hypothalamic and sellar regions. Their histogenesis is still the subject of discussions. Herein we present a unique case of a pituitary gangliocytoma associated with a prolactinoma and a corticotroph adenoma in a patient affected by MEN1. The histologic study revealed shared features between adenomatous and neuronal cells, supporting the etiological hypothesis of a common origin or a phenomenon of transdifferentiation. Furthermore, gangliocytoma could be a new tumor related to MEN1...
January 10, 2017: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28070481/lung-adenocarcinoma-and-adrenocortical-carcinoma-in-a-patient-with-multiple-endocrine-neoplasia-type-1
#20
Nobumasa Ohara, Masanori Kaneko, Masahiro Ikeda, Fumio Ishizaki, Kazuya Suzuki, Ryo Maruyama, Takeshi Komeyama, Kazuhiro Sato, Kenichi Togashi, Hiroyuki Usuda, Yuto Yamazaki, Hironobu Sasano, Kenzo Kaneko, Kyuzi Kamoi
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. Although most MEN1-associated tumors are benign, malignant lesions arising in these endocrine organs have been reported. Additionally, malignant diseases of non-endocrine organs concomitant with MEN1 have also been reported...
2017: Respiratory Medicine Case Reports
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