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https://www.readbyqxmd.com/read/28087162/mir-24-inhibition-increases-menin-expression-and-decreases-cholangiocarcinoma-proliferation
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28007956/upregulation-of-rpa2-promotes-nf-%C3%AE%C2%BAb-activation-in-breast-cancer-by-relieving-the-antagonistic-function-of-menin-on-nf-%C3%AE%C2%BAb-regulated-transcription
#4
Chao-Chung Chen, Chi-Wen Juan, Kuan-Yu Chen, Yi-Chien Chang, Janq-Chang Lee, Ming-Chung Chang
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. Ablation of RPA2 in MDA-MB-231 cells induced apoptosis and suppressed colony formation, EMT and invasion. Binding assays indicated that menin, the MEN1 (multiple endocrine neoplasia type 1) tumor suppressor gene product, interacted with RPA2...
December 22, 2016: Carcinogenesis
https://www.readbyqxmd.com/read/27994516/genes-involved-in-angiogenesis-and-mtor-pathways-are-frequently-mutated-in-asian-patients-with-pancreatic-neuroendocrine-tumors
#5
Wen-Chi Chou, Po-Han Lin, Yi-Chen Yeh, Yi-Ming Shyr, Wen-Liang Fang, Shin-E Wang, Chun-Yu Liu, Peter Mu-Hsin Chang, Ming-Han Chen, Yi-Ping Hung, Chung-Pin Li, Yee Chao, Ming-Huang Chen
Introduction: To address the issue of limited data on and inconsistent findings for genetic alterations in pancreatic neuroendocrine tumors (pNETs), we analyzed sequences of known pNET-associated genes for their impact on clinical outcomes in a Taiwanese cohort. Methods: Tissue samples from 40 patients with sporadic pNETs were sequenced using a customized sequencing panel that analyzed 43 genes with either an established or potential association with pNETs. Genetic mutations and clinical outcomes were analyzed for potential associations...
2016: International Journal of Biological Sciences
https://www.readbyqxmd.com/read/27986441/silent-genetic-alterations-identified-by-targeted-next-generation-sequencing-in-pheochromocytoma-paraganglioma-a-clinicopathological-correlations
#6
Suja Pillai, Vinod Gopalan, Chung Y Lo, Victor Liew, Robert A Smith, Alfred King Y Lam
AIMS: The goal of this pilot study was to develop a customized, cost-effective amplicon panel (Ampliseq) for target sequencing in a cohort of patients with sporadic phaeochromocytoma/paraganglioma. METHODS: Phaeochromocytoma/paragangliomas from 25 patients were analysed by targeted next-generation sequencing approach using an Ion Torrent PGM instrument. Primers for 15 target genes (NF1, RET, VHL, SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, MEN1, KIF1Bβ, EPAS1, CDKN2 & PHD2) were designed using ion ampliseq designer...
December 13, 2016: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/27975336/growth-rate-of-small-pancreatic-neuroendocrine-tumors-in-multiple-endocrine-neoplasia-type-1-results-from-an-endoscopic-ultrasound-based-cohort-study
#7
Wouter F W Kappelle, Gerlof D Valk, Max Leenders, Leon M G Moons, Auke Bogte, Peter D Siersema, Frank P Vleggaar
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. Patients and methods Linear array EUS procedures in patients with MEN1 between 2002 and 2015 were identified...
January 2017: Endoscopy
https://www.readbyqxmd.com/read/27955848/-intrathyroidal-location-of-parathyroid-glands-atypical-presentation-of-multiple-endocrine-neoplasia-type-1-syndrome
#8
Marta de la Fuente-Bartolomé, Alejando Moreno-Bargueiras, Irene Osorio-Silla, José Ignacio Martínez-Pueyo, Felipe de la Cruz-Vigo, Lara Gutiérrez-Ashling
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. Patient presents HPTP with osteopenia. The cervical ultrasound shows three compatible images with pathological parathyroid glands (bilateral lower and upper left)...
December 9, 2016: Cirugia y Cirujanos
https://www.readbyqxmd.com/read/27933172/brown-tumor-of-the-jaw-after-pregnancy-and-lactation-in-a-men1-patient
#9
Anna Casteràs, Lídia Darder, Carles Zafon, Juan Antonio Hueto, Margarita Alberola, Enric Caubet, Jordi Mesa
: Skeletal manifestations of primary hyperparathyroidism (pHPT) include brown tumors (BT), which are osteoclastic focal lesions often localized in the jaws. Brown tumors are a rare manifestation of pHTP in Europe and USA; however, they are frequent in developing countries, probably related to vitamin D deficiency and longer duration and severity of disease. In the majority of cases, the removal of the parathyroid adenoma is enough for the bone to remineralize, but other cases require surgery...
2016: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/27924221/targeting-mll1-h3k4-methyltransferase-activity-to-guide-cardiac-lineage-specific-reprogramming-of-fibroblasts
#10
Liu Liu, Ienglam Lei, Hacer Karatas, Yangbing Li, Li Wang, Leonid Gnatovskiy, Yali Dou, Shaomeng Wang, Li Qian, Zhong Wang
Generation of induced cardiomyocytes (iCMs) directly from fibroblasts offers a great opportunity for cardiac disease modeling and cardiac regeneration. A major challenge of iCM generation is the low conversion rate. To address this issue, we attempted to identify small molecules that could potentiate the reprogramming ability towards cardiac fate by removing inhibitory roadblocks. Using mouse embryonic fibroblasts as the starting cell source, we first screened 47 cardiac development related epigenetic and transcription factors, and identified an unexpected role of H3K4 methyltransferase Mll1 and related factor Men1 in inhibiting iCM reprogramming...
2016: Cell Discovery
https://www.readbyqxmd.com/read/27913610/whole-exome-sequencing-of-thymic-neuroendocrine-tumor-with-ectopic-acth-syndrome
#11
Yanli Li, Ying Peng, Xiuli Jiang, Yulong Cheng, Weiwei Zhou, Tingwei Su, Jing Xie, Xu Zhong, Dalong Song, Luming Wu, Liwen Fan, Min Li, Jie Hong, Weiqing Wang, Guang Ning, Yanan Cao
OBJECTIVE: Thymic neuroendocrine tumor is the second-most prevalent cause of ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS), which is a rare disease characterized by ectopic ACTH oversecretion from nonpituitary tumors. However, the genetic abnormalities of thymic neuroendocrine tumors with EAS remain largely unknown. We aim to elucidate the genetic abnormalities and identify the somatic mutations of potential tumor-related genes of thymic neuroendocrine tumors with EAS by whole exome sequencing...
February 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27904855/multiple-endocrine-neoplasia-type-1-with-anterior-mediastinal-parathyroid-adenoma-successful-localization-using-tc-99m-sestamibi-spect-ct
#12
Hye Lim Park, Ie Ryung Yoo, Sung Hoon Kim, Sohee Lee
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)...
December 2016: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/27873319/lung-neuroendocrine-tumours-deep-sequencing-of-the-four-world-health-organization-histotypes-reveals-chromatin-remodelling-genes-as-major-players-and-a-prognostic-role-for-tert-rb1-men1-and-kmt2d
#13
Michele Simbolo, Andrea Mafficini, Katarzyna O Sikora, Matteo Fassan, Stefano Barbi, Vincenzo Corbo, Luca Mastracci, Borislav Rusev, Federica Grillo, Caterina Vicentini, Roberto Ferrara, Sara Pilotto, Federico Davini, Giuseppe Pelosi, Rita T Lawlor, Marco Chilosi, Giampaolo Tortora, Emilio Bria, Gabriella Fontanini, Marco Volante, Aldo Scarpa
Next-generation sequencing (NGS) was applied to 148 lung neuroendocrine tumours (LNETs) comprising the four World Health Organization classification categories: 53 typical carcinoid (TCs), 35 atypical carcinoid (ACs), 27 large-cell neuroendocrine carcinomas, and 33 small-cell lung carcinomas. A discovery screen was conducted on 46 samples by the use of whole-exome sequencing and high-coverage targeted sequencing of 418 genes. Eighty-eight recurrently mutated genes from both the discovery screen and current literature were verified in the 46 cases of the discovery screen, and validated on additional 102 LNETs by targeted NGS; their prevalence was then evaluated on the whole series...
November 22, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27872097/menin-and-daxx-interact-to-suppress-neuroendocrine-tumors-through-epigenetic-control-of-the-membrane-metallo-endopeptidase
#14
Zijie Feng, Lei Wang, Yanmei Sun, Zongzhe Jiang, John Domsic, Chiying An, Bowen Xing, Jingjing Tian, Xiuheng Liu, David C Metz, Xiaolu Yang, Ronen Marmorstein, Xiaosong Ma, Xianxin Hua
Neuroendocrine tumors (NET) often harbor loss-of-function mutations in the MEN1 and DAXX tumor suppressor genes. Here, we report that the products of these genes, menin and Daxx, interact directly with each other to suppress the proliferation of NET cells, to a large degree by inhibiting expression of the membrane metallo-endopeptidase (MME). Menin and Daxx were required to enhance histone H3 lysine9 trimethylation (H3K9me3) at the MME promoter, as mediated partly by the histone H3 methyltransferase SUV39H1...
November 21, 2016: Cancer Research
https://www.readbyqxmd.com/read/27846313/clinical-and-genetic-analysis-of-multiple-endocrine-neoplasia-type-1-related-primary-hyperparathyroidism-in-chinese
#15
Jing Kong, Ou Wang, Min Nie, Jie Shi, Yingying Hu, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Xiaoping Xing
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. X-rays and ultrasound were used to assess the bone and urinary system...
2016: PloS One
https://www.readbyqxmd.com/read/27842554/men1-redefined-a-clinical-comparison-of-mutation-positive-and-mutation-negative-patients
#16
Joanne M de Laat, Rob B van der Luijt, Carolina R C Pieterman, Maria P Oostveen, Ad R Hermus, Olaf M Dekkers, Wouter W de Herder, Anouk N van der Horst-Schrivers, Madeleine L Drent, Peter H Bisschop, Bas Havekes, Menno R Vriens, Gerlof D Valk
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. The present study aims to describe and compare the clinical course of MEN1 mutation-negative patients with two out of the three main MEN1 manifestations and mutation-positive patients during long-term follow-up...
November 15, 2016: BMC Medicine
https://www.readbyqxmd.com/read/27811505/early-and-late-complications-after-surgery-for-men1-related-nonfunctioning-pancreatic-neuroendocrine-tumors
#17
Sjoerd Nell, Inne H M Borel Rinkes, Helena M Verkooijen, Bert A Bonsing, Casper H van Eijck, Harry van Goor, Ruben H J de Kleine, Geert Kazemier, Elisabeth J Nieveen van Dijkum, Cornelis H C Dejong, Gerlof D Valk, Menno R Vriens
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. Currently, there are insufficient data on the surgical complications after MEN1 NF-pNET surgery...
November 1, 2016: Annals of Surgery
https://www.readbyqxmd.com/read/27801610/kmt2a-cooperates-with-menin-to-suppress-tumorigenesis-in-mouse-pancreatic-islets
#18
Wenchu Lin, Joshua M Francis, Hong Li, Xiaoping Gao, Chandra Sekhar Pedamallu, Patricia Ernst, Matthew Meyerson
The reported incidence of pancreatic neuroendocrine tumors (PanNETs) has increased, due in large part to improvements in detection and awareness. However, therapeutic options are limited and a critical need exists for understanding a more thorough characterization of the molecular pathology underlying this disease. The Men1 knockout mouse model recapitulates the early stage of human PanNET development and can serve as a foundation for the development of advanced mouse models that are necessary for preclinical testing...
December 2016: Cancer Biology & Therapy
https://www.readbyqxmd.com/read/27801341/-the-expression-of-p27-kip1-and-%C3%AE-catenin-in-multiple-endocrine-neoplasia-type-1-related-parathyroid-tumors
#19
J Kong, O Wang, M Nie, J Shi, Y Jiang, M Li, W B Xia, X W Meng, X P Xing
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. Results: In MHPT subjects, nuclear expression of p27(Kip1) was absent in 4 (12...
November 1, 2016: Zhonghua Nei Ke za Zhi [Chinese Journal of Internal Medicine]
https://www.readbyqxmd.com/read/27799361/de-novo-mutation-in-men1-is-not-associated-with-parental-somatic-mosaicism
#20
LETTER
Yael Laitman, Anat Jaffe, Hagit Schayek, Eitan Friedman
No abstract text is available yet for this article.
January 2017: Endocrine-related Cancer
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