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Multiple Endocrine Neoplasia Type 1

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https://www.readbyqxmd.com/read/27911673/genetic-syndromes-associated-with-central-nervous-system-tumors
#1
Charmi Vijapura, Ehab Saad Aldin, Aristides A Capizzano, Bruno Policeni, Yutaka Sato, Toshio Moritani
Several genetic tumor syndromes have associated central nervous system (CNS) neoplasms. The spectrum of syndromes that have intracranial tumor manifestations includes ataxia telangiectasia, Cowden syndrome, familial adenomatous polyposis, hereditary non-polyposis-related colorectal cancer, Li-Fraumeni syndrome, Gorlin syndrome, neurofibromatosis types 1 and 2, multiple endocrine neoplasia type 1, tuberous sclerosis complex, von Hippel-Lindau disease, and Turcot syndrome. Many of these disorders are inherited in an autosomal dominant fashion, and identification of the associated genetic defects has led to improved understanding of the molecular pathways involved in tumorigenesis, helping pave the way to the emergence of molecularly targeted therapeutics...
December 2, 2016: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/27904855/multiple-endocrine-neoplasia-type-1-with-anterior-mediastinal-parathyroid-adenoma-successful-localization-using-tc-99m-sestamibi-spect-ct
#2
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/27899191/genetic-predisposition-to-endocrine-tumors-diagnosis-surveillance-and-challenges-in-care
#3
REVIEW
Elisabeth Joye Petr, Tobias Else
Endocrine tumor syndromes, eg, multiple endocrine neoplasia types 1 and 2, were among the first recognized hereditary predisposition syndromes to tumor development. Over time, the number of endocrine tumor syndromes has significantly expanded, eg, with the recent inclusion of hereditary paraganglioma syndromes. Associations of non-endocrine tumors with hereditary endocrine tumor syndromes and endocrine tumors with non-classical endocrine tumor syndromes have emerged. These findings have certainly expanded the scope of care, necessitating a multidisciplinary approach by a team of medical professionals and researchers, integrating shared patient decision-making at every step of surveillance, diagnosis, and treatment...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27896787/extracorporeal-membrane-oxygenation-for-pheochromocytoma-induced-cardiogenic-shock
#4
Guillaume Hekimian, Fatima Kharcha, Nicolas Bréchot, Matthieu Schmidt, Cécile Ghander, Guillaume Lebreton, Xavier Girerd, Christophe Tresallet, Jean-Louis Trouillet, Pascal Leprince, Jean Chastre, Alain Combes, Charles-Edouard Luyt
BACKGROUND: Pheochromocytoma, a rare catecholamine-producing tumor, might provoke stress-induced Takotsubo-like cardiomyopathy and severe cardiogenic shock. Because venoarterial-extracorporeal membrane oxygenation (VA-ECMO) rescue of pheochromocytoma-induced refractory cardiogenic shock has rarely been reported, we reviewed our ICU patients' presentations and outcomes. METHODS: All pheochromocytoma-induced refractory cardiogenic shock cases managed with VA-ECMO (January 2007-March 2015) were prospectively included and reviewed...
December 2016: Annals of Intensive Care
https://www.readbyqxmd.com/read/27869424/-study-of-medullary-thyroid-carcinoma-from-a-proband
#5
Laura Morlán Herrador, Antonio de Arriba, Gloria Miguel, Marta Ferrera, José I Labarta
Thyroid cancer is an uncommon type of cancer, accounting less than 1% of all cancers in adults, and 0.5-3% of all cancers in children. There are four different types: papillary carcinoma (80-90% of cases), follicular (5-10%), medullary (5%) and anaplastic cell (2-3%). Eighty per cent of cases of medullary thyroid cancer are sporadic, but 20% are associated with an inherited syndrome that is divided into three groups: multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma...
December 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27863775/operation-for-insulinomas-in-multiple-endocrine-neoplasia-type-1-when-pancreatoduodenectomy-is-appropriate
#6
Francesco Tonelli, Francesco Giudici, Gabriella Nesi, Giacomo Batignani, Maria Luisa Brandi
BACKGROUND: Distal pancreatectomy is the most frequent operation for insulinomas complicating multiple endocrine neoplasia type 1 insulinoma, although there are conditions for which a different operative approach might be preferable. In this article, we report the operative experience of a referral center for multiple endocrine neoplasia type 1 insulinoma. METHODS: Twelve patients underwent operations between 1992 and 2015: 8 underwent a distal pancreatic resection, and 4 underwent a pancreatoduodenectomy...
November 15, 2016: Surgery
https://www.readbyqxmd.com/read/27846313/clinical-and-genetic-analysis-of-multiple-endocrine-neoplasia-type-1-related-primary-hyperparathyroidism-in-chinese
#7
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/27842919/operative-intervention-for-primary-hyperparathyroidism-offers-greater-bone-recovery-in-patients-with-sporadic-disease-than-in-those-with-multiple-endocrine-neoplasia-type-1-related-hyperparathyroidism
#8
Angelica M Silva, Danica Vodopivec, Ioannis Christakis, Genevieve Lyons, Qiu Wei, Steven G Waguespack, Steven M Petak, Elizabeth Grubbs, Jeffrey E Lee, Nancy Perrier
BACKGROUND: We investigated whether the outcome of bone disease of primary hyperparathyroidism differs in multiple endocrine neoplasia type 1-associated disease and sporadic hyperparathyroidism at 1-year postoperatively. METHODS: Multiple endocrine neoplasia type 1/hyperparathyroidism and sporadic hyperparathyroidism patients who underwent parathyroidectomy from 1990 to 2013 and dual-energy x-ray absorptiometry at baseline and 1-year postoperatively were included...
November 11, 2016: Surgery
https://www.readbyqxmd.com/read/27842554/men1-redefined-a-clinical-comparison-of-mutation-positive-and-mutation-negative-patients
#9
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
#10
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/27801341/-the-expression-of-p27-kip1-and-%C3%AE-catenin-in-multiple-endocrine-neoplasia-type-1-related-parathyroid-tumors
#11
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
#12
Yael Laitman, Anat Jaffe, Hagit Schayek, Eitan Friedman
Extract: Dear Editor, Multiple Endocrine Neoplasia Type 1 (MEN1- OMIM #131100) is characterized by the co-occurrence of tumors in at least two of the following three endocrine tissues: parathyroid, endocrine pancreas and anterior pituitary [Thakker 2014]. Familial MEN1 follows an autosomal dominant mode of inheritance and germline mutations in the MEN1 gene at 11q13 can be detected in affected family members [Chandrasekharappa et al 1997]. Mutations in the CDKN1B gene (CDKN1B, KIP1, OMIM #600778) have been also reported in MEN1 families but are far less frequent [Pellegata et al 2006]...
October 31, 2016: Endocrine-related Cancer
https://www.readbyqxmd.com/read/27787920/phaeochromocytomas-are-diagnosed-incidentally-and-at-older-age-in-neurofibromatosis-type-1
#13
Jessica Moramarco, Nada El Ghorayeb, Nadine Dumas, Serge Nolet, Luce Boulanger, Nelly Burnichon, André Lacroix, Zaki Elhaffaf, Anne-Paule Gimenez Roqueplo, Pavel Hamet, Isabelle Bourdeau
INTRODUCTION: Guidelines do not currently recommend routine systematic hormonal screening for phaeochromocytoma (PHEO) in all/normotensive patients with Neurofibromatosis type 1 (NF1), in contrast to other PHEO predisposing genetic syndromes such as Von Hippel Lindau syndrome and Multiple endocrine neoplasia type 2. OBJECTIVES: To characterise and compare parameters of PHEO in NF1 patients to patients with or without other germline mutations. METHODS: Retrospective chart review of patients with histologically proven PHEO at the Centre Hospitalier de l'Université de Montréal from 2000 through 2015...
October 27, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27773149/parathyroid-morphology-and-menin-staining%C3%A2-in-multiple-endocrine-neoplasia-type-1-men-1
#14
L Prentice, H K Muller, J R Burgess
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27770475/long-term-outcomes-in-patients-with-multiple-endocrine-neoplasia-type-1-and-pancreaticoduodenal-neuroendocrine-tumors
#15
D Donegan, N Singh Ospina, R Rodriguez-Gutierrez, Z Al-Hilli, G B Thompson, B L Clarke, W F Young
BACKGROUND: In patients with multiple endocrine neoplasia type 1 (MEN-1), pancreaticoduodenal (PD) neuroendocrine tumors (NETs) are associated with early mortality, yet, the best treatment strategy, remains uncertain. AIM: To assess patient important outcomes (mortality and metastasis) of PD NETs and predictors of outcomes in patients with MEN-1. METHODS: Retrospective cohort of patients with MEN-1 who attended the Mayo Clinic, Rochester, MN from 1997-2014...
October 21, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27745835/gcm2-activating-mutations-in-familial-isolated-hyperparathyroidism
#16
Bin Guan, James M Welch, Julie C Sapp, Hua Ling, Yulong Li, Jennifer J Johnston, Electron Kebebew, Leslie G Biesecker, William F Simonds, Stephen J Marx, Sunita K Agarwal
Primary hyperparathyroidism (PHPT) is a common endocrine disease characterized by parathyroid hormone excess and hypercalcemia and caused by hypersecreting parathyroid glands. Familial PHPT occurs in an isolated nonsyndromal form, termed familial isolated hyperparathyroidism (FIHP), or as part of a syndrome, such as multiple endocrine neoplasia type 1 or hyperparathyroidism-jaw tumor syndrome. The specific genetic or other cause(s) of FIHP are unknown. We performed exome sequencing on germline DNA of eight index-case individuals from eight unrelated kindreds with FIHP...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27742789/novel-genetic-causes-of-pituitary-adenomas
#17
EDITORIAL
Francisca Caimari, Márta Korbonits
Recently, a number of novel genetic alterations have been identified that predispose individuals to pituitary adenomas. Clinically relevant pituitary adenomas are relatively common, present in 0.1% of the general population. They are mostly benign monoclonal neoplasms that arise from any of the five hormone-secreting cell types of the anterior lobe of the pituitary gland, and cause disease due to hormonal alterations and local space-occupying effects. The pathomechanism of pituitary adenomas includes alterations in cell-cycle regulation and growth factor signaling, which are mostly due to epigenetic changes; somatic and especially germline mutations occur more rarely...
October 15, 2016: Clinical Cancer Research: An Official Journal of the American Association for Cancer Research
https://www.readbyqxmd.com/read/27710978/efficacy-and-long-term-safety-of-everolimus-in-pancreatic-neuroendocrine-tumor-associated-with-multiple-endocrine-neoplasia-type-i-case-report
#18
Manuel C D F Maia, Delmar Muniz Lourenço, Rachel Riechelmann
BACKGROUND: Approximately 10% of pancreatic neuroendocrine tumors (NET) are associated with familial syndromes, with the most common type being multiple endocrine neoplasia type 1 (MEN-1). However, the available evidence on how to treat NET comes from studies in sporadic NET. CASE REPORT: Here we report the case of a 51-year-old male patient with a metastatic MEN-1-associated pancreatic NET and hypercalcemia related to primary hyperparathyroidism and tumor-secreted parathyroid-related protein...
2016: Oncology Research and Treatment
https://www.readbyqxmd.com/read/27673361/medullary-thyroid-carcinoma-associated-with-germline-ret-k666n-mutation
#19
Jian Yu Xu, Elizabeth G Grubbs, Steven G Waguespack, Camilo Jimenez, Robert F Gagel, Julie Ann Sosa, Rena Vassilopoulou-Sellin, Ramona Dadu, Mimi I Hu, Chardria S Trotter, Michelle Jackson, Thereasa A Rich, Samuel M Hyde, Steven I Sherman, Gilbert J Cote
BACKGROUND: Multiple endocrine neoplasia type 2 is an autosomal dominant inherited syndrome caused by activating mutations in the RET proto-oncogene. The K666N RET DNA variant was previously reported in two isolated medullary thyroid carcinoma (MTC) cases, but no family studies are available, and its oncogenic significance remains unknown. METHODS: The clinical features, genetic data, and family information of eight index MTC patients with a germline RET K666N variant were assessed...
September 27, 2016: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/27612033/fluorine-18-fluorocholine-pet-ct-localizes-hyperparathyroidism-in-patients-with-inconclusive-conventional-imaging-a-multicenter-study-from-the-netherlands
#20
Wouter P Kluijfhout, Wessel M C M Vorselaars, Sandra A M van den Berk, Menno R Vriens, Inne H M Borel Rinkes, Gerlof D Valk, Thijs van Dalen, John M H de Klerk, Bart de Keizer
BACKGROUND: Several reports have shown good performance of fluorine-18 fluorocholine (F-FCH) PET-computed tomography (CT) for parathyroid localization, although overall evidence remains scarce. We collected data from three institutions in the Netherlands and investigated the performance of F-FCH PET-CT as a second-line imaging modality. MATERIALS AND METHODS: We performed a retrospective review of all patients at least 18 years who underwent F-FCH PET-CT for biochemically proven hyperparathyroidism (HPT) and inconclusive ultrasound and sestamibi scintigraphy...
September 8, 2016: Nuclear Medicine Communications
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