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https://www.readbyqxmd.com/read/28429092/natural-history-of-men1-gep-net-single-center-experience-after-a-long-follow-up
#1
Francesco Giudici, Tiziana Cavalli, Francesca Giusti, Giorgio Gronchi, Giacomo Batignani, Francesco Tonelli, Maria Luisa Brandi
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...
April 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28420716/a-men1-pancreatic-neuroendocrine-tumour-mouse-model-under-temporal-control
#2
Kate E Lines, Roeland P Vas Nunes, Morten Frost, Christopher J Yates, Mark Stevenson, Rajesh Thakker
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...
April 18, 2017: Endocrine Connections
https://www.readbyqxmd.com/read/28395810/generation-of-non-integrated-induced-pluripotent-stem-cells-from-a-23-year-old-male-with-multiple-endocrine-neoplasia-type-1-syndrome
#3
Dongsheng Guo, Feima Wu, Haikun Liu, Ge Gao, Shanglong Kou, Fan Yang, Nasir Abbas, Tiancheng Zhou, Xiujuan Cai, Hui Zhang, Dajiang Qin, Jialiang Li, Kecheng Xu, Yin-Xiong Li
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. Karyotyping indicated the chromosomes with normal appearances and numbers. Their pluripotency was demonstrated by gene expression and their abilities for differentiating into three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395809/creating-a-patient-carried-men1-gene-point-mutation-on-wild-type-ipscs-locus-mediated-by-crispr-cas9-and-ssodn
#4
Dongsheng Guo, Haikun Liu, Ge Gao, Yanli Liu, Yuanqi Zhuang, Fan Yang, Kepin Wang, Tiancheng Zhou, Dajiang Qin, Liangqing Hong, Jialiang Li, Kecheng Xu, Yin-Xiong Li
A patient specific point mutation (c.1288G>T) of Men1 gene was introduced into wide type iPSC line with CRISPR/Cas9 and single-stranded donor oligonucleotides carrying the mutation. The mutated iPSC line has a heterozygous c.1288G>T mutation on exon-9 of Men1 that was confirmed by sequencing analysis. The karyotype of this line was normal and the pluripotency was demonstrated by its ability to differentiate into three germ layers. These artificially created Men1 mutation in wild type iPSC line will help to dissect out the molecular basis of two patients carried the same mutation from one family who were differentially represented hypoglycemia...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28395808/generation-of-non-integrated-induced-pluripotent-stem-cells-from-a-59-year-old-female-with-multiple-endocrine-neoplasia-type-1-syndrome
#5
Dongsheng Guo, Feima Wu, Haikun Liu, Ge Gao, Shanglong Kou, Fan Yang, Nasir Abbas, Tiancheng Zhou, Xiujuan Cai, Hui Zhang, Dajiang Qin, Jialiang Li, Kecheng Xu, Yin-Xiong Li
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. Their pluripotency was demonstrated by gene expression, as well as their abilities for differentiating into three germ layers...
January 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28336826/-etiology-and-pathogenesis-of-primary-hyperparathyroidism
#6
Mika Yamauchi, Toshitsugu Sugimoto
Primary hyperparathyroidism(pHPT)is a frequent endocrine disease in which abnormal calcium(Ca)regulation leads to hypercalcemia. The most frequent cause of pHPT in more than 80% of patients is an adenoma, followed by hyperplasia in about 15%, and cancer in 1~5%. Although most cases of pHPT are sporadic, a few are familial(hereditary), and this is known as familial hyperparathyroidism(FHPT). Gene abnormalities that affect cyclin D1 signaling(CCND1, CDC73, CDKN1B), Wnt/β-catenin signaling(MEN1), and calcium-sensing receptor signaling(CaSR, GNA11, AP2S1)play a role in the etiology and pathogenesis of pHPT...
2017: Clinical Calcium
https://www.readbyqxmd.com/read/28329921/neuroendocrine-tumors-in-the-stomach-duodenum-and-pancreas-accompanied-by-novel-men1-gene-mutation
#7
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/28323985/utility-of-fdg-pet-imaging-for-risk-stratification-of-pancreatic-neuroendocrine-tumours-in-men-1
#8
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
#9
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/28321559/is-routine-screening-of-young-asymptomatic-men1-patients-necessary
#10
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/28298337/radiological-surveillance-in-multiple-endocrine-neoplasia-type-1-a-double-edged-sword
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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...
April 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
#19
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
#20
Sunita M C 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 nationwide cross-sectional study of patients with pituitary adenomas with onset ≤40 years of age and/or other personal/family history of endocrine neoplasia...
May 2017: European Journal of Endocrinology
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