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Endocrine neoplasia

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https://www.readbyqxmd.com/read/28506408/genetics-of-medullary-thyroid-cancer-an-overview
#1
REVIEW
Giacomo Accardo, Giovanni Conzo, Daniela Esposito, Claudio Gambardella, Marco Mazzella, Filomena Castaldo, Carlo Di Donna, Andrea Polistena, Nicola Avenia, Vittorio Colantuoni, Dario Giugliano, Daniela Pasquali
Medullary thyroid carcinoma (MTC) represents 3-5% of thyroid cancers. 75% is sporadic and 25% is the dominant component of the hereditary multiple endocrine neoplasia (MEN) type 2 syndromes. Three different subtypes of MEN2, such as MEN2A, MEN2B, and Familial MTC (FMTC) have been defined, based on presence or absence of hyperparathyroidism, pheocromocytoma and characteristic clinical features. Mutations of the RET proto-oncogene are implicated in the pathogenesis of MTC, but there are many other mutational patterns involved...
May 2017: International Journal of Surgery
https://www.readbyqxmd.com/read/28504695/epigenetic-pathway-inhibitors-represent-potential-drugs-for-treating-pancreatic-and-bronchial-neuroendocrine-tumors
#2
K E Lines, M Stevenson, P Filippakopoulos, S Müller, H E Lockstone, B Wright, S Grozinsky-Glasberg, A B Grossman, S Knapp, D Buck, C Bountra, R V Thakker
Cancer is associated with alterations in epigenetic mechanisms such as histone modifications and methylation of DNA, and inhibitors targeting epigenetic mechanisms represent a novel class of anti-cancer drugs. Neuroendocrine tumors (NETs) of the pancreas (PNETs) and bronchus (BNETs), which may have 5-year survivals of <50% and as low as 5%, respectively, represent targets for such drugs, as >40% of PNETs and ~35% of BNETs have mutations of the multiple endocrine neoplasia type 1 (MEN1) gene, which encodes menin that modifies histones by interacting with histone methyltransferases...
May 15, 2017: Oncogenesis
https://www.readbyqxmd.com/read/28503312/germline-and-somatic-genetic-changes-in-multicentric-tumors-obtained-from-a-patient-with-multiple-endocrine-neoplasia-type-1
#3
Akane Naruoka, Sumiko Ohnami, Takeshi Nagashima, Masakuni Serizawa, Keiichi Ohshima, Shumpei Ohnami, Kenichi Urakami, Yasue Horiuchi, Yoshimi Kiyozumi, Masato Abe, Takashi Nakajima, Teiichi Sugiura, Katsuhiko Uesaka, Masatoshi Kusuhara, Ken Yamaguchi
Multiple endocrine neoplasia type 1 (MEN1) is a hereditary cancer syndrome caused by germline mutations of the MEN1 gene located in chromosome 11q13. In patients with MEN1, multicentric tumors develop in the involved organs; however, precise evaluation of genetic changes in these multicentric tumors has not been performed. In the present study, using whole-exome sequencing, we analyzed germline and somatic genetic changes in blood cells, two pancreatic endocrine tumors and one duodenal tumor obtained from a patient with MEN1 gastrinoma...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/28501573/alterations-of-dna-methylation-in-parathyroid-tumors
#4
REVIEW
V Guarnieri, L A Muscarella, C Verdelli, S Corbetta
Parathyroid tumors are common endocrine neoplasias associated with primary hyperparathyroidism, a metabolic disorder characterized by parathormone hypersecretion. Parathyroid neoplasia are frequently benign adenomas or multiple glands hyperplasia, while malignancies are rare. The epigenetic scenario in parathyroid tumors has just begun to be decoded: DNA methylation, histones and chromatin modifiers expression have been investigated so far. The main findings suggest that DNA methylation and chromatin remodeling are active and deregulated in parathyroid tumors, cooperating with genetic alterations to drive the tumor phenotype: the tumor suppressors menin and parafibromin, involved in parathyroid tumorigenesis, interact with chromatin modifiers, defining distinct epigenetic derangements...
May 10, 2017: Molecular and Cellular Endocrinology
https://www.readbyqxmd.com/read/28485270/a-review-of-the-scaffold-protein-menin-and-its-role-in-hepatobiliary-pathology
#5
Laurent Ehrlich, Chad Hall, Fanyin Meng, Terry Lairmore, Gianfranco Alpini, Shannon Glaser
Multiple endocrine neoplasia type I (MEN1) is a familial cancer syndrome with neuroendocrine tumorigenesis of the parathyroid glands, pituitary gland, and pancreatic islet cells. The MEN1 gene codes for the canonical tumor suppressor protein, menin. Its protein structure has recently been crystallized, and it has been investigated in a multitude of other tissues. In this review, we summarize recent advancements in understanding the structure of the menin protein and its function as a scaffold protein in histone modification and epigenetic gene regulation...
April 28, 2017: Gene Expression
https://www.readbyqxmd.com/read/28481789/comparison-of-the-68ga-dotatata-pet-ct-fdg-pet-ct-and-mibg-spect-ct-in-the-evaluation-of-suspected-primary-pheochromocytomas-and-paragangliomas
#6
Hongli Jing, Fang Li, Ling Wang, Zhenghua Wang, Wei Li, Li Huo, Jingjing Zhang
Anatomical imaging modalities including CT and MRI are the mainstay of evaluation of primary pheochromocytoma or paraganglioma. However, nuclear medicine imaging is frequently necessary to determine the nature of the lesions. The purpose of this investigation is to assess which commonly used nuclear medicine modality might have a better diagnostic value in this clinical setting. METHODS: Eight patients who had been suspected of having either primary pheochromocytoma or primary paraganglioma and 1 patient with known pheochromocytoma were included in the analysis...
May 6, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28476233/genetics-of-multiple-endocrine-neoplasia-type-1-multiple-endocrine-neoplasia-type-2-syndromes
#7
REVIEW
Samuel M Hyde, Gilbert J Cote, Elizabeth G Grubbs
Multiple endocrine neoplasia syndromes types 1 and 2 represent well-characterized yet clinically heterogeneous hereditary conditions for which diagnostic and management recommendations exist; genetic testing for these inherited endocrinopathies is included in these guidelines and is an important part of identifying affected patients and their family members. Understanding of these mature syndromes is challenged as more individuals undergo genetic testing and genetic data are amassed, with the potential to create clinical conundrums that may have an impact on individualized approaches to management and counseling...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28471129/management-of-a-multiple-endocrine-neoplasia-type-1-during-pregnancy-a-case-report-and-review-of-the-literature
#8
Halil Korkut Daglar, Ayse Kirbas, Ebru Biberoglu, Bergen Laleli, Nuri Danisman
Multiple Endocrine Neoplasia Type 1 (MEN1) or Wermer's syndrome is a rare hereditary endocrine syndrome with high penetrance caused by mutations in MEN1 tumor suppressor gene. MEN1 is characterized by hyperplasia or tumoral enlargement in a number of endocrine organs (parathyroid glands, pancreas, pituitary gland, adrenal gland) and it could be hormonally active or inactive. MEN1 is a significant cause of morbidity due to hormone secretion and mass effect. Since it is a rare condition, there are no guidelines with respect to the follow-up of pregnant women with MEN1...
July 2016: Journal of Experimental Therapeutics & Oncology
https://www.readbyqxmd.com/read/28470558/phase-ii-study-of-lanreotide-autogel-in-japanese-patients-with-unresectable-or-metastatic-well-differentiated-neuroendocrine-tumors
#9
Tetsuhide Ito, Yoshitaka Honma, Susumu Hijioka, Atsushi Kudo, Akira Fukutomi, Akira Nozaki, Yasutoshi Kimura, Fuyuhiko Motoi, Hiroyuki Isayama, Izumi Komoto, Seiichi Hisamatsu, Akihiro Nakajima, Akira Shimatsu
Background Lanreotide is a long-acting somatostatin analog with demonstrated efficacy against enteropancreatic neuroendocrine tumor (NET) in the phase III (CLARINET) study. Materials and Methods In this single-arm study, Japanese patients with grade (G) 1/G2 NET received lanreotide (120 mg/4 weeks) for 48 weeks. Those who completed the study were enrolled in a long-term extension study. The primary endpoint was the clinical benefit rate (CBR) defined as a complete response, partial response (PR), or stable disease (SD) over 24-weeks...
May 3, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/28469779/analysis-of-differentially-expressed-micrornas-in-men1-parathyroid-adenomas
#10
Ettore Luzi, Simone Ciuffi, Francesca Marini, Carmelo Mavilia, Gianna Galli, Maria Luisa Brandi
Multiple Endocrine Neoplasia type 1 (MEN1) syndrome is a rare complex tumor-predisposing hereditary disorder, inherited in an autosomal dominant manner (OMIM 131100). MEN1 is characterized by tumors of the parathyroids, the neuroendocrine cells of the gastro-entero-pancreatic tract, and the anterior pituitary. The molecular mechanisms that control parathyroid tumorigenesis are still poorly understood. Here we studied the global microRNAs (miRNAs) expression profile in MEN1 parathyroid adenomas to understand the role of these regulatory factors in MEN1 parathyroid tumorigenesis...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#11
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28458907/hypersecretion-of-acth-and-prl-from-pituitary-adenoma-in-men1-adequately-managed-by-medical-therapy
#12
Shinsuke Uraki, Hiroyuki Ariyasu, Asako Doi, Hiroto Furuta, Masahiro Nishi, Takeshi Usui, Hiroki Yamaue, Takashi Akamizu
SUMMARY: A 54-year-old man had gastrinoma, parathyroid hyperplasia and pituitary tumor. His family history indicated that he might have multiple endocrine neoplasia type 1 (MEN1). MEN1 gene analysis revealed a heterozygous germline mutation (Gly156Arg). Therefore, we diagnosed him with MEN1. Endocrinological tests revealed that his serum prolactin (PRL) and plasma adrenocorticotropic hormone (ACTH) levels were elevated to 1699 ng/mL and 125 pg/mL respectively. Immunohistochemical analysis of the resected pancreatic tumors revealed that the tumors did not express ACTH...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28458876/thymoma-world-health-organization-type-b3-with-neuroendocrine-differentiation-in-multiple-endocrine-neoplasia-type-1
#13
Masaki Tomita, Nobuhiko Ichiki, Takanori Ayabe, Hiroyuki Tanaka, Hiroaki Kataoka, Kunihide Nakamura
Thymic epithelial tumors occur in 1-5% of patients with multiple endocrine neoplasia type 1 (MEN 1). Majority of these thymic epithelial tumors are thymic carcinoids and patients with thymoma in MEN 1 is rare. Furthermore, thymoma with neuroendocrine differentiation was also rarely reported. Herein, we report a 68-year-old man having type B3 thymoma with neuroendocrine differentiation in MEN 1 and to the best of our knowledge this is the first such case ever reported.
April 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28451474/adjuvant-radiotherapy-for-thymic-neuroendocrine-tumors-a-case-report-and-review-of-the-literature
#14
Omar Iskanderani, David Roberge, Geneviève Coulombe
Thymic carcinoid tumors are very rare. Between two and four percent of carcinoids originate from the thymus with an estimated incidence of 1.5 to 3 per 10,000,000 persons per year. Thymic carcinoids can be associated with the multiple endocrine neoplasia (MEN) type 1. The principal treatment is surgical resection. The potential roles of systemic and radiation treatments are a matter of debate. We describe the successful multidisciplinary treatment of a case of thymic carcinoid associated with MEN and review the literature pertaining to the use of adjuvant thoracic radiation...
March 26, 2017: Curēus
https://www.readbyqxmd.com/read/28446479/severe-chronic-diarrhoea-secondary-to-primary-lymph-node-gastrinoma
#15
Mouhanna Abu Ghanimeh, Khalil Abuamr, Esmat Sadeddin, Osama Yousef
The existence of primary lymph node (LN) gastrinoma is questionable and controversial. In fact, the presence of gastrinoma in such uncommon site raises the possibility of metastasis from another occult primary site. An extensive evaluation and careful follow-up is always warranted. A female aged 48 years presented with chronic abdominal pain and watery diarrhoea. Her serum gastrin and chromogranin were elevated, and an underlying gastrinoma was suspected. Further evaluation with an octreotide scan, an endoscopic ultrasound and a secretin stimulation test confirmed the diagnosis...
April 26, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28438782/incidence-and-prevalence-of-multiple-endocrine-neoplasia-2b-in-denmark-a-nationwide-study
#16
Jes Sloth Mathiesen, Jens Peter Kroustrup, Peter Vestergaard, Mette Madsen, Kirstine Stochholm, Per Løgstrup Poulsen, Åse Krogh Rasmussen, Ulla Feldt-Rasmussen, Sten Schytte, Henrik Baymler Pedersen, Christoffer Holst Hahn, Jens Bentzen, Mette Gaustadnes, Torben Falck Ørntoft, Thomas van Overeem Hansen, Finn Cilius Nielsen, Kim Brixen, Anja Lisbeth Frederiksen, Christian Godballe
Extract: Multiple endocrine neoplasia 2B (MEN2B) is an autosomal dominant inherited cancer syndrome associating medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), ganglioneuromatosis of the aerodigestive tract and facial, ophthalmologic and skeletal abnormalities. MEN2B is caused by the M918T and A883F mutation of the REarranged during Transfection (RET) proto-oncogene in approximately 95% and <5% of cases, respectively. Only very few other mutations have been reported to cause MEN2B. In approximately 75% of MEN2B patients, mutations occur as de novo (Wells, et al...
April 24, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28435794/cushing-disease-in-a-patient-with-multiple-endocrine-neoplasia-type-2b
#17
Kannan Kasturi, Lucas Fernandes, Martha Quezado, Mary Eid, Leigh Marcus, Prashant Chittiboina, Mark Rappaport, Constantine A Stratakis, Brigitte Widemann, Maya Lodish
CONTEXT: Multiple endocrine neoplasia type 2B (MEN2B) is a rare autosomal-dominant cancer syndrome characterized in part by metastatic medullary thyroid cancer (MTC) and pheochromocytoma. Cushing disease is a rare cause of endogenous hypercortisolism in children. CASE DESCRIPTION: We describe a 21-year-old African-American male who was diagnosed at age 10 with an ACTH-secreting pituitary microadenoma. At age 16 he developed medullary thyroid cancer and was found to have multiple endocrine neoplasia type 2B with the characteristic M918T mutation of the RET proto-oncogene...
June 2017: J Clin Transl Endocrinol Case Rep
https://www.readbyqxmd.com/read/28434176/persistent-and-recurrent-hyperparathyroidism
#18
REVIEW
Carole Guerin, Nunzia Cinzia Paladino, Aoife Lowery, Fréderic Castinetti, David Taieb, Fréderic Sebag
Despite remarkable progress in imaging modalities and surgical management, persistence or recurrence of primary hyperparathyroidism (PHPT) still occurs in 2.5-5% of cases of PHPT. The aim of this review is to expose the management of persistent and recurrent hyperparathyroidism. A literature search was performed on MEDLINE using the search terms "recurrent" or "persistent" and "hyperparathyroidism" within the past 10 years. We also searched the reference lists of articles identified by this search strategy and selected those we judged relevant...
April 22, 2017: Updates in Surgery
https://www.readbyqxmd.com/read/28429092/natural-history-of-men1-gep-net-single-center-experience-after-a-long-follow-up
#19
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/28426491/treatment-of-pancreatic-neuroendocrine-tumors-in-multiple-endocrine-neoplasia-type-1-some-clarity-but-continued-controversy
#20
Robert T Jensen, Jeffrey A Norton
No abstract text is available yet for this article.
May 2017: Pancreas
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