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Endocrine neoplasia

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https://www.readbyqxmd.com/read/28811300/epigenetic-regulation-by-the-menin-pathway
#1
Zijie Feng, Jian Ma, Xianxin Hua
There is a trend of increasing prevalence of neuroendocrine tumors (NETs), and the inherited multiple endocrine neoplasia type 1 (MEN1) syndrome serves as a genetic model to investigate how NETs develop and the underlying mechanisms. Menin, encoded by the MEN1 gene, at least partly acts as a scaffold protein by interacting with multiple partners to regulate cellular homeostasis of various endocrine organs. Menin has multiple functions including regulating several important signaling pathways by controlling gene transcription...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811299/twenty-years-of-menin-emerging-opportunities-for-restoration-of-transcription-in-men1
#2
Koen M A Dreijerink, Marc Timmers, Myles Brown
Since the discovery of the multiple endocrine neoplasia type 1 (MEN1) gene in 1997, elucidation of the molecular function of its protein product, menin, has been a challenge. Biochemical, proteomics, genetics and genomics approaches have identified various potential roles, which converge on gene expression regulation. The most consistent findings show that menin connects transcription factors and chromatin modifying enzymes, in particular the histone H3K4 methyltransferase complexes MLL1 and MLL2. Chromatin immunoprecipitation combined with next generation sequencing has enabled studying genome-wide dynamics of chromatin binding by menin...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811298/the-future-surgical-advances-in-men1-therapeutic-approaches-and-management-strategies
#3
Samira Mercedes Sadowski, Guillaume Cadiot, Eric Dansin, Pierre Goudet, Frédéric Triponez
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary autosomal dominant disorder associated with numerous neuroendocrine tumors (NETs). Recent advances in the management of MEN1 have led to a decrease in mortality due to excess hormones; however, they have also led to an increase in mortality from malignancy, particularly NETs. The main challenges are to localize these tumors, to select those that need therapy because of the risk of aggressive behavior, and to select the appropriate therapy associated with minimal morbidity...
August 15, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28811081/prognostic-value-of-who-grade-in-pancreatic-neuro-endocrine-tumors-in-multiple-endocrine-neoplasia-type-1-results-from-the-dutchmen1-study-group
#4
Elfi B Conemans, Lodewijk A A Brosens, Gabriela M Raicu-Ionita, 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, H Th Marc Timmers, G Johan Offerhaus, Gerlof D Valk, Menno R Vriens
BACKGROUND: The prognostic value of WHO grade in pancreatic neuroendocrine tumors (PanNETs) in patients with Multiple Endocrine Neoplasia Type 1 (MEN1) is unknown. METHODS: We performed a cohort study using the Dutch National MEN1 database, which includes >90% of the Dutch MEN1 population with data collected between 1990 and 2014. Formalin-fixed paraffin embedded tissue blocks from the largest resected PanNET per patient were collected. MIB1 staining was performed and KI67 labeling index (LI) was determined by manual eye-counting under a microscope and by digital image analysis...
July 31, 2017: Pancreatology: Official Journal of the International Association of Pancreatology (IAP) ... [et Al.]
https://www.readbyqxmd.com/read/28795691/evaluation-of-in-vitro-and-in-vivo-activity-of-a-multityrosine-kinase-inhibitor-al3810-against-human-thyroid-cancer
#5
Qin Xie, Hui Chen, Jing Ai, Ying-Lei Gao, Mei-Yu Geng, Jian Ding, Yi Chen
Thyroid cancer is the most common type of endocrine neoplasia. Despite recent breakthroughs in treatment of the disease, the treatment of advanced, progressive thyroid cancers remains challenging with limited therapeutic options available. In this study, we evaluated a novel and orally bioavailable small-molecule multiple tyrosine kinases inhibitor, AL3810, in preclinical models of thyroid cancer in vitro and in vivo. AL3810 (2-5 μmol/L) dose-dependently inhibited the proliferation of human thyroid cancer cell lines TT, SW579 and TPC-1 in vitro with IC50 values ranging from 0...
August 10, 2017: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/28793277/o-2-18-f-fluoroethyl-l-tyrosine-18-f-fet-uptake-in-insulinoma-first-results-from-a-xenograft-mouse-model-and-from-human
#6
Alessio Imperiale, Frédéric Boisson, Guillaume Kreutter, Bernard Goichot, Izzie Jacques Namer, Philippe Bachellier, Patrice Laquerriere, Laurence Kessler, Patrice Marchand, David Brasse
INTRODUCTION: Herein we have evaluated the uptake of O-(2-(18)F-fluoroethyl)-l-tyrosine ((18)F-FET) in insulinoma in comparison with those of 6-(18)F-fluoro-3,4-dihydroxy-l-phenylalanine ((18)F-FDOPA) providing first data from both murine xenograft model and one patient with proved endogenous hyperinsulinemic hypoglycemia. METHODS: Dynamic (18)F-FET and carbidopa-assisted (18)F-FDOPA PET were performed on tumor-bearing nude mice after subcutaneous injection of RIN-m5F murine beta cells and on a 30-year-old man with type-1 multiple endocrine neoplasia and hyperinsulinemic hypoglycemia defined by a positive fasting test...
July 12, 2017: Nuclear Medicine and Biology
https://www.readbyqxmd.com/read/28790162/the-future-diagnostic-and-imaging-advances-in-men1-therapeutic-approaches-and-management-strategies
#7
Jerena Manoharan, Max B Albers, Detlef K Bartsch
Prospective randomized data are lacking, but current clinical expert guidelines recommend annual screening examinations, including laboratory assessments and various imaging modalities (e.g. CT, MRI, scintigraphy and EUS) for patients with multiple endocrine neoplasia type 1 (MEN1). Routine screening is proposed to detect and localize neuroendocrine manifestations as early as possible. The goal is timely intervention to improve quality of life and to increase life expectancy by preventing the development of life threatening hormonal syndromes and/or metastatic disease...
August 8, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28782520/direct-interaction-of-menin-leads-to-ubiquitin-proteasomal-degradation-of-%C3%AE-catenin
#8
Byungho Kim, Tae-Yang Song, Kwan Young Jung, Seul Gi Kim, Eun-Jung Cho
Menin, encoded by the multiple endocrine neoplasia type 1 (MEN1) gene, is a tumor suppressor and transcription regulator. Menin interacts with various proteins as a scaffold protein and is proposed to play important roles in multiple physiological and pathological processes by controlling gene expression, proliferation, and apoptosis. The mechanisms underlying menin's suppression of tumorigenesis are largely elusive. In this study, we showed that menin was essential for the regulation of canonical Wnt/β-catenin signaling in cultured cells...
August 3, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28776139/catching-the-zebra-clinical-pearls-and-pitfalls-for-the-successful-diagnosis-of-zollinger-ellison-syndrome
#9
REVIEW
Aaron H Mendelson, Mark Donowitz
Zollinger-Ellison syndrome (ZES) results from an ectopic gastrin-secreting tumor leading to peptic ulcer disease, reflux, and chronic diarrhea. While early recognition portends an excellent prognosis with >80% survival at 15 years, symptoms are often nonspecific making the diagnosis difficult to establish. Diagnosis involves a series of tests, including fasting gastrin, gastric pH, chromogranin A, and secretin stimulation. Performing these tests in the correct sequence and at the proper time is essential to avoid inaccurate results...
August 3, 2017: Digestive Diseases and Sciences
https://www.readbyqxmd.com/read/28768698/the-future-advances-in-therapeutic-approach-and-management-strategies-for-men1
#10
Rachel S van Leeuwaarde, Joanne M de Laat, Carolina R C Pieterman, Koen M A Dreijerink, Menno Vriens, Gerlof D Valk
Multiple endocrine neoplasia type 1 is a rare autosomal inherited disorder associated with a high risk for patients to simultaneously develop tumours of the parathyroid glands, duodeno-pancreatic neuroendocrine tumors and tumors of the anterior pituitary gland. Early identification of MEN1 in patients enables presymptomatic screening of manifestations which makes timely interventions possible with the intention to prevent morbidity and mortality. Causes of death nowadays have shifted towards local or metastatic progression of malignant neuro endocrine tumors...
August 2, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28760150/bilateral-pheochromocytoma-with-ganglioneuroma-component-associated-with-multiple-neuroendocrine-neoplasia-type-2a-a-case-report
#11
Boubacar Efared, Gabrielle Atsame-Ebang, Soufiane Tahirou, Khalid Mazaz, Nawal Hammas, Hinde El Fatemi, Laila Chbani
BACKGROUND: Composite pheochromocytoma/paragangliomas are very rare tumors composed of ordinary pheochromocytoma paragangliomas associated with neurogenic tumors. Several hereditary susceptibility disorders are known to be associated with pheochromocytoma/paragangliomas such as multiple endocrine neoplasia type 2 (2A or B). To the best of our knowledge, only four cases of composite pheochromocytoma/paragangliomas associated with multiple endocrine neoplasia type 2 have been reported. CASE PRESENTATION: A 40-year-old Arabic woman presented with headache, palpitations, paroxysmal hypertension, and weight loss, which she had had for the last 3 years...
August 1, 2017: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/28755389/no-calcitonin-change-in-a-person-taking-dulaglutide-diagnosed-with-pre-existing-medullary-thyroid-cancer
#12
S I Sherman, R T Kloos, R M Tuttle, A Pontecorvi, H Völzke, K Harper, C Vance, J T Alston, A L Usborne, K W Sloop, M Lakshmanan
BACKGROUND: Glucagon-like peptide-1 receptor agonists, such as dulaglutide, exenatide and liraglutide, are approved to treat Type 2 diabetes mellitus. Although these drugs provide substantial glycaemic control, studies in rodents have prompted concerns about the development of medullary thyroid carcinoma. These data are reflected in the US package insert, with boxed warnings and product labelling noting the occurrence of these tumours after clinically relevant exposures in rodents, and contraindicating glucagon-like peptide-1 receptor agonist use in people with a personal or family history of medullary thyroid carcinoma or in people with multiple endocrine neoplasia type 2...
July 29, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/28752085/review-of-pediatric-pheochromocytoma-and-paraganglioma
#13
REVIEW
Reshma Bholah, Timothy Edward Bunchman
Pheochromocytoma (PCC) and paraganglioma (PGL) are rare chromaffin cell tumors which secrete catecholamines and form part of the family of neuroendocrine tumors. Although a rare cause of secondary hypertension in pediatrics, the presentation of hypertension in these patients is characteristic, and treatment is definitive. The gold standard for diagnosis is via measurement of plasma free metanephrines, with imaging studies performed for localization, identification of metastatic lesions and for surgical resection...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28747092/clinical-features-of-a-family-with-multiple-endocrine-neoplasia-type-2a-caused-by-the-d631y-mutation
#14
Naykky M Singh Ospina, Spyridoula Maraka, Diane Donegan, John C Morris
We describe a family with multiple endocrine neoplasia type 2A (MEN2A) caused by the D631Y RET mutation resulting in an atypical phenotype. The index case was a 24-year-old man, with history of recurrent anaplastic ependymoma incidentally found to have the D631Y RET mutation. At first assessment, 4 family-members had evidence of large pheochromocytoma (PHEO). One patient was found to have micro-medullary thyroid cancer (MTC) at age 79. None of the patients had primary hyperparathyroidism. Patients with MEN2A caused by a D631Y RET mutation most commonly present with PHEO...
July 26, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28736585/late-onset-asymptomatic-pancreatic-neuroendocrine-tumor-a-case-report-on-the-phenotypic-expansion-for-men1
#15
Charu Kaiwar, Sarah K Macklin, Jennifer M Gass, Jessica Jackson, Eric W Klee, Stephanie L Hines, John A Stauffer, Paldeep S Atwal
BACKGROUND: Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome associated with several endocrine as well as non-endocrine tumors and is caused by mutations in the MEN1 gene. Primary hyperparathyroidism affects the majority of MEN1 individuals by age 50 years. Additionally, MEN1 mutations trigger familial isolated hyperparathyroidism. We describe a seemingly unaffected 76-year-old female who presented to our Genetics Clinic with a family history of primary hyperparathyroidism and the identification of a pathogenic MEN1 variant...
2017: Hereditary Cancer in Clinical Practice
https://www.readbyqxmd.com/read/28733926/perioperative-management-of-endocrine-insufficiency-after-total-pancreatectomy-for-neoplasia
#16
REVIEW
Ajay V Maker, Raashid Sheikh, Vinita Bhagia
PURPOSE: Indications for total pancreatectomy (TP) have increased, including for diffuse main duct intrapapillary mucinous neoplasms of the pancreas and malignancy; therefore, the need persists for surgeons to develop appropriate endocrine post-operative management strategies. The brittle diabetes after TP differs from type 1/2 diabetes in that patients have absolute deficiency of insulin and functional glucagon. This makes glucose management challenging, complicates recovery, and predisposes to hospital readmissions...
July 21, 2017: Langenbeck's Archives of Surgery
https://www.readbyqxmd.com/read/28733468/management-impact-effects-on-quality-of-life-and-prognosis-in-men1
#17
Francesca Marini, Francesca Giusti, Francesco Tonelli, Maria Luisa Brandi
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant endocrine tumor syndrome, caused by inactivating mutations of the MEN1 tumor suppressor gene at 11q13 locus, which predisposes to develop tumors in target neuroendocrine tissues. Since the positional cloning and identification of the causative gene in 1997, genetic diagnosis, by the sequencing-based research of gene mutations, has become an important tool in the early and differential diagnosis of the disease. Application of the genetic test, in MEN1 index cases and in first degree relatives of mutated patients, has been constantly increasing during the last two decades, also thanks to the establishment of multidisciplinary referral centers and specific genetic counselling, and thanks to the wide availability of high throughput instruments for gene sequencing and gene mutation identification...
July 21, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28729773/is-new-american-thyroid-association-risk-classification-for-hereditary-medullary-thyroid-carcinoma-applicable-to-chinese-patients-a-single-center-study
#18
Xiwei Zhang, Dangui Yan, Junyi Wang, Hanfeng Wan, Yongxia Zhang, Yabing Zhang, Yuqin He, Wensheng Liu, Bin Zhang
OBJECTIVE: The American Thyroid Association (ATA) proposed a new risk classification for hereditary medullary thyroid carcinoma (MTC) in 2015. This study aimed to assess whether the new guidelines are suitable for the Chinese population, and reported our experience on prophylactic thyroidectomy. METHODS: A total of 73 patients from 22 families were screened as rearranged during transfection (RET) mutation carriers from 2010 to 2016 in Cancer Hospital, Chinese Academy of Medical Science; the medical history for each patient was collected...
June 2017: Chinese Journal of Cancer Research, Chung-kuo Yen Cheng Yen Chiu
https://www.readbyqxmd.com/read/28728245/-prophylactic-thyroidectomy-in-two-children-indentified-ret-germline-mutations-with-multiple-endocrine-neoplasia-type-2a
#19
Y J Pang, X H Chen, J Y Zhang, Z Dong, S F Wu, F F Zhang, J L Gao
No abstract text is available yet for this article.
July 7, 2017: Zhonghua Er Bi Yan Hou Tou Jing Wai Ke za Zhi, Chinese Journal of Otorhinolaryngology Head and Neck Surgery
https://www.readbyqxmd.com/read/28693130/novel-association-of-men1-gene-mutations-with-parathyroid-carcinoma
#20
Luigia Cinque, Angelo Sparaneo, Filomena Cetani, Michelina Coco, Celeste Clemente, Massimiliano Chetta, Teresa Balsamo, Claudia Battista, Eliana Sanpaolo, Elena Pardi, Leonardo D'Agruma, Claudio Marcocci, Evaristo Maiello, Geoffrey N Hendy, David E C Cole, Alfredo Scillitani, Vito Guarnieri
Inactivating mutations of the multiple endocrine neoplasia 1 (MEN1) gene cause MEN1 syndrome, characterized by primary hyperparathyroidism (pHPT), and parathyroid and gastro-entero-pancreatic pituitary tumors. At present, only 14 cases of malignant parathyroid tumor have been associated with the syndrome, with 6 cases carrying an inactivating mutation of the MEN1 gene. The present study presents the case of a 48-year-old female who presented with multigland pHPT and multiple pancreatic lesions. The patient underwent surgery several times for the excision of parathyroid hyperplasia, carcinoma and adenoma...
July 2017: Oncology Letters
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