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Multiple Endocrine Neoplasia

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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
#1
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/28218201/b-mode-and-contrast-enhancement-characteristics-of-small-nonincidental-neuroendocrine-pancreatic-tumors
#2
Barbara Braden, Christian Jenssen, Mirko D'Onofrio, Michael Hocke, Uwe Will, Kathleen Möller, Andre Ignee, Yi Dong, Xin-Wu Cui, Adrian Sãftoiu, Christoph F Dietrich
BACKGROUND AND OBJECTIVES: Imaging of the pancreas for detection of neuroendocrine tumors is indicated as surveillance in multiple endocrine neoplasia type 1 (MEN1) or if typical clinical symptoms combined with hormone production raise the suspicion of a neuroendocrine tumor. Endoscopic ultrasound (EUS) is considered the best imaging modality to detect small pancreatic tumors. However, little is known about how small pancreatic neuroendocrine tumors (pNETs) present on EUS. PATIENTS AND METHODS: In this multicenter study, we retrospectively analyzed the endosonographic characteristics of small pNETs which had been detected due to typical biochemistry and clinical symptoms or during surveillance of MEN 1...
January 2017: Endoscopic Ultrasound
https://www.readbyqxmd.com/read/28217023/metabolic-bone-disease-in-the-context-of-metastatic-neuroendocrine-tumor-differentiation-from-skeletal-metastasis-the-molecular-pet-ct-imaging-features-and-exploring-the-possible-etiopathologies-including-parathyroid-adenoma-men1-and-paraneoplastic-humoral
#3
Rohit Ranade, Sandip Basu
Three cases of metabolic bone disease in the setting of metastatic neuroendocrine tumor (NET) are illustrated with associated etiopathologies.  One of these cases harbored mixed lesions in the form of vertebral metastasis (biopsy proven) while the other skeletal lesions were caused due to metabolic bone disease related to multiple parathyroid adenomas. While the metastatic lesion was positive on 68Ga-DOTATATE positron emission tomography-computed tomography (PET-CT), the lesions of metabolic bone disease were negative and the 18F-fluoride PET-CT demonstrated the features of metabolic bone scan...
January 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28203045/a-novel-men1-mutation-in-a-japanese-adolescent-with-multiple-endocrine-neoplasia-type-1
#4
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/28191292/oncocytic-variant-of-medullary-thyroid-carcinoma-a-rare-case-of-sporadic-multifocal-and-bilateral-ret-wild-type-neoplasm-with-revision-of-the-literature
#5
Gian Luca Rampioni Vinciguerra, Niccolò Noccioli, Claudia Cippitelli, Angelo Minucci, Ettore Capoluongo, Armando Bartolazzi
Oncocytic variant of medullary thyroid carcinoma (OV-MTC) is a very unusual entity, up to date only 17 cases have been reported in the literature. MTC is a neuro-endocrine malignancy arising from the para-follicular C cells of the thyroid gland. It generally has a slight female predominance and appears as a single lesion. However in the Multiple Endocrine Neoplasia Syndrome 2, linked to the point mutation of RET oncogene, multifocal MTCs may also occur. Herein, we report the case of a 75 years old man with a rare form of sporadic multifocal and bilateral OV-MTC expressing wild-type RET gene...
November 17, 2016: Rare Tumors
https://www.readbyqxmd.com/read/28188377/-neuroendocrine-neoplasia-of-the-stomach-what-is-new
#6
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
#7
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/28186607/-clinical-features-and-mutations-of-ret-proto-oncogene-in-a-pedigree-affected-with-type-2a-multiple-endocrine-neoplasia
#8
Yong Zhang, Xiao Zheng, Liang Cheng, Shaogang Ma
OBJECTIVE: To investigate the clinical features and mutations of RET proto-oncogene in a pedigree affected with multiple endocrine neoplasia type 2A (MEN2A). METHODS: Clinical data of the family members was collected. Genomic DNA from peripheral blood leukocytes were extracted and subjected to PCR amplification. Exons 8, 10, 11, 13, 14, 15, 16 of the RET gene was sequenced. RESULTS: A missense mutation p.C634W was detected in 8 members from the family...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28184288/genetics-of-multiple-endocrine-neoplasia-type-1-syndrome-what-s-new-and-what-s-old
#9
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/28166591/search-of-the-p-m918t-mutation-in-the-ret-oncogene-in-mexican-adult-patients-with-medullary-thyroid-carcinoma
#10
Erika Ruiz-Garcia, Silvia Vidal-Millan, Alicia Lopez-Yañez, José Antonio Posada Torres, Jorge Alberto Guadarrama-Orozco, Leonardo Saul Lino-Silva, Abelardo Meneses-Garcia, Horacio Astudillo-de la Vega, Martin Granados Garcia
Inherited mutations in the RET proto-oncogene, which encodes a receptor tyrosine kinase, predispose individuals to the multiple endocrine neoplasia type 2 (MEN 2) cancer syndromes. The major component tumor of these syndromes is medullary thyroid carcinoma (MTC). To date, somatic mutations in RET have been identified in tumors from individuals with MEN 2 finding. RET M918T mutation is present in 95% of the MEN2B cases, and approximately 50% of sporadic MTCs harbor this mutation. We performed a mutational analysis in 17 cases of Medullary thyroid carcinoma, the somatic missense mutation at codon 918 of RET was found in 2 of the 17 MTCs, and one case presented MEN2 phenotype including MTC...
February 6, 2017: Experimental and Clinical Endocrinology & Diabetes
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
#11
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/28137737/evidence-for-the-founder-effect-of-ret533-as-the-common-greek-and-brazilian-ancestor-spreading-multiple-endocrine-neoplasia-2a
#12
Lucas Leite Cunha, Susan Chow Lindsey, Maria Inez França, Leda Sarika, Alexandra Papathoma, Ilda S Kunii, Janete Maria Cerutti, Magnus R Dias-da-Silva, Maria Alevizaki, Rui M B Maciel
OBJECTIVES: About one quarter of patients with medullary thyroid cancer (MTC) have inherited disease due to mutations in the RET gene. A rare mutation in exon 8 (G533C) of RET, previously described in a large Brazilian family with MEN2A, appeared to be clustering also in Greece while it was rarely reported in other ethnic groups. The aim of this study was to identify a possible common ancestry between these carriers. PATIENTS AND METHODS: Twelve RET G533C mutation carriers, four randomly selected from the Brazilian cohort and eight from apparently unrelated Greek families, were studied for a possible common ancestral origin...
January 30, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28134695/multiple-endocrine-neoplasia-type-2b-unmasked-by-18f-fdg-pet-ct-and-131i-mibg-spect-ct
#13
Xun Sun, Maher Mohamad Rajab Arnous, Xiaoli Lan
F-FDG PET/CT was performed to detect an occult malignancy in a 26-year-old woman with complicated medical history which included paroxysmal hypertension and significantly elevated tumor marker. The images revealed lesions in the thyroid, lymph nodes, and bilateral adrenal glands. Further I-MIBG SPECT/CT revealed intense activity in the lesion in the left adrenal gland, which was consistent with pheochromocytoma. The pathology examination after subsequent neck biopsy demonstrated medullary thyroid carcinoma...
January 27, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28133267/-multiple-endocrine-neoplasia-type-1-men1-presenting-with-hypoglycemic-attacks-a-case-report
#14
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
#15
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/28122586/mir-182-promotes-cancer-invasion-by-linking-ret-oncogene-activated-nf-%C3%AE%C2%BAb-to-loss-of-the-hes1-notch1-regulatory-circuit
#16
Alf Spitschak, Claudia Meier, Bhavani Kowtharapu, David Engelmann, Brigitte M Pützer
BACKGROUND: Dominant-activating mutations in the RET proto-oncogene, a receptor tyrosine kinase, are responsible for the development of medullary thyroid carcinoma (MTC) and causative for multiple endocrine neoplasia (MEN) type 2A and 2B. These tumors are highly aggressive with a high propensity for early metastasis and chemoresistance. This attribute makes this neoplasia an excellent model for probing mechanisms underlying cancer progression. METHODS: The expression level of miR-182 was measured in MTC tumor specimens and in TT cells by real-time RT-PCR...
January 26, 2017: Molecular Cancer
https://www.readbyqxmd.com/read/28110695/men1-and-micrornas-the-link-between-sporadic-pituitary-parathyroid-and-adrenocortical-tumors
#17
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/28110467/an-overview-of-autosomal-dominant-tumour-syndromes-with-prominent-features-in-the-oral-and-maxillofacial-region
#18
REVIEW
Robert A Kennedy, Selvam Thavaraj, Salvador Diaz-Cano
Several autosomal dominant inherited tumour syndromes demonstrate prominent features in the oral and maxillofacial region. Although multiple organ systems are frequently involved, the target organs more frequently affected are the skin (nevoid basal cell carcinoma syndrome, Brooke-Spiegler syndrome, Birt-Hogg-Dube syndrome and Muir-Torre syndrome), gastrointestinal tract (Peutz-Jegher syndrome and Gardner syndrome) or endocrine system (multiple endocrine neoplasia type 2b and hyperparathyroidism-jaw tumour syndrome)...
January 21, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28106886/loss-of-menin-in-osteoblast-lineage-affects-osteocyte-osteoclast-crosstalk-causing-osteoporosis
#19
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/28099363/different-ret-gene-mutation-induced-multiple-endocrine-neoplasia-type-2a-in-3-chinese-families
#20
Qiuli Liu, Dali Tong, Wenqiang Yuan, Gaolei Liu, Gang Yuan, Weihua Lan, Dianzheng Zhang, Jun Zhang, Zaoming Huang, Yao Zhang, Jun Jiang
BACKGROUD: Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. Little is reported about MEN2A syndrome in the Chinese population. METHODS: All members of the 3 families along with specific probands of MEN2A were analyzed for their clinical, laboratory, and genetic characteristics...
January 2017: Medicine (Baltimore)
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