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pheochromocytoma guidelines

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https://www.readbyqxmd.com/read/28384794/clinical-characterization-of-the-pheochromocytoma-and-paraganglioma-susceptibility-genes-sdha-tmem127-max-and-sdhaf2-for-gene-informed-prevention
#1
Birke Bausch, Francesca Schiavi, Ying Ni, Jenny Welander, Attila Patocs, Joanne Ngeow, Ulrich Wellner, Angelica Malinoc, Elisa Taschin, Giovanni Barbon, Virginia Lanza, Peter Söderkvist, Adam Stenman, Catharina Larsson, Fredrika Svahn, Jin-Lian Chen, Jessica Marquard, Merav Fraenkel, Martin A Walter, Mariola Peczkowska, Aleksander Prejbisz, Barbara Jarzab, Kornelia Hasse-Lazar, Stephan Petersenn, Lars C Moeller, Almuth Meyer, Nicole Reisch, Arnold Trupka, Christoph Brase, Matthias Galiano, Simon F Preuss, Pingling Kwok, Nikoletta Lendvai, Gani Berisha, Özer Makay, Carsten C Boedeker, Georges Weryha, Karoly Racz, Andrzej Januszewicz, Martin K Walz, Oliver Gimm, Giuseppe Opocher, Charis Eng, Hartmut P H Neumann
Importance: Effective cancer prevention is based on accurate molecular diagnosis and results of genetic family screening, genotype-informed risk assessment, and tailored strategies for early diagnosis. The expanding etiology for hereditary pheochromocytomas and paragangliomas has recently included SDHA, TMEM127, MAX, and SDHAF2 as susceptibility genes. Clinical management guidelines for patients with germline mutations in these 4 newly included genes are lacking. Objective: To study the clinical spectra and age-related penetrance of individuals with mutations in the SDHA, TMEM127, MAX, and SDHAF2 genes...
April 6, 2017: JAMA Oncology
https://www.readbyqxmd.com/read/28323957/risk-profile-of-the-ret-a883f-germline-mutation-an-international-collaborative-study
#2
Jes Sloth Mathiesen, Mouhammed Amir Habra, John Howard Duncan Bassett, Sirazum Mubin Choudhury, Sabapathy Prakash Balasubramanian, Trevor A Howlett, Bruce G Robinson, Anne-Paule Gimenez-Roqueplo, Frederic Castinetti, Peter Vestergaard, Karin Frank-Raue
Context: The A883F germline mutation of the REarranged during Transfection proto-oncogene causes multiple endocrine neoplasia 2B. In the revised American Thyroid Association (ATA) guidelines for the management of medullary thyroid carcinoma (MTC) the A883F mutation has been reclassified from the highest to high risk level, although no well-defined risk profile for this mutation exists. Objective: To create a risk profile for the A883F mutation for appropriate classification in the ATA risk levels...
March 17, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28276947/assessment-of-depression-anxiety-quality-of-life-and-coping-in-long-standing-multiple-endocrine-neoplasia-type-2-patients
#3
Karine C Rodrigues, Rodrigo A Toledo, Flavia L Coutinho, Adriana B Nunes, Rui M B Maciel, Ana O Hoff, Marcos C Tavares, Sergio P A Toledo, Delmar M Lourenço
BACKGROUND: Data on psychological harm in multiple endocrine neoplasia type 2 (MEN2) are scarce. OBJECTIVES: The aim of this study was to assess anxiety, depression, quality of life, and coping in long-standing MEN2 patients. PATIENTS AND METHODS: Patients were 43 adults (age ≥18 years) with clinical and genetic diagnosis of MEN2 and long-term follow-up (10.6 ± 8.2 years; range 1-33 years). This was a cross-sectional study with qualitative and quantitative psychological assessment using semi-directed interviews and HADS, EORTC QLQ C30, and MINI-MAC scales...
April 4, 2017: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/28255411/structured-assessment-and-followup-for-patients-with-hereditary-kidney-tumour-syndromes
#4
Jean-Baptiste Lattouf, Stephen E Pautler, M Neil Reaume, Raymond H Kim, Melanie Care, Jane Green, Alan So, Philippe D Violette, Issam Saliba, Philippe Major, Shane Silver, Richard Leicht, Joan Basiuk, Simon Tanguay, Michael A S Jewett, Darrel Drachenberg
INTRODUCTION: Optimal clinical assessment and subsequent followup of patients with or suspected of having a hereditary renal cell carcinoma syndrome (hRCC) is not standardized and practice varies widely. We propose protocols to optimize these processes in patients with hRCC to encourage a more uniform approach to management that can then be evaluated. METHODS: A review of the literature, including existing guidelines, was carried out for the years 1985-2015. Expert consensus was used to define recommendations for initial assessment and followup...
July 2016: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28181818/recommendations-for-the-management-of-adrenal-incidentalomas-what-is-pertinent-for-radiologists
#5
Anju Sahdev
Adrenal incidentalomas are unsuspected, asymptomatic adrenal masses detected on imaging. Most are non-functioning benign adrenocortical adenomas but can represent other benign lesions or lesions requiring therapeutic intervention including adrenocortical carcinoma, pheochromocytoma, hormone-producing adenoma or metastasis. This review summarizes and highlights radiological recommendations within the recently issued guidelines for the management of adrenal incidentalomas from the European Society of Endocrinology Clinical Practice in collaboration with the European Network for Study of Adrenal Tumours...
April 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28070114/development-of-database-and-genomic-medicine-for-von-hippel-lindau-disease-in-japan
#6
Shunsaku Takayanagi, Akitake Mukasa, Hirofumi Nakatomi, Hiroshi Kanno, Jun-Ichi Kuratsu, Ryo Nishikawa, Kazuhiko Mishima, Atushi Natsume, Toshihiko Wakabayashi, Kiyohiro Houkin, Shunsuke Terasaka, Masahiro Yao, Nobuo Shinohara, Taro Shuin, Nobuhito Saito
von Hippel-Lindau (VHL) disease is a hereditary tumor disease in which tumors develop in multiple organs, not only as hemangioblastomas (HBs) in the central nervous system, but also as kidney tumors, pheochromocytomas, and so on. Much about the epidemiology of VHL disease remained unknown until fairly recently in Japan, leading to calls for the establishment of a VHL disease epidemiological database in Japanese. To elucidate its epidemiology in Japan, the Japanese Ministry of Health, Labour and Welfare created the VHL Disease Study Group, which was put in charge of carrying out a nationwide epidemiological survey...
February 15, 2017: Neurologia Medico-chirurgica
https://www.readbyqxmd.com/read/27899191/genetic-predisposition-to-endocrine-tumors-diagnosis-surveillance-and-challenges-in-care
#7
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/27623515/the-author-s-reply-inappropriate-adrenoreceptor-blockade-prior-to-pheochromocytoma-removal-a-timely-reappraisal
#8
LETTER
Henrique V Luiz, Run Yu, Katherine Wolf, Ning Miao, Andrew Mannes, Karel Pacak
No abstract text is available yet for this article.
December 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27390021/management-of-adrenal-incidentalomas-european-society-of-endocrinology-clinical-practice-guideline-in-collaboration-with-the-european-network-for-the-study-of-adrenal-tumors
#9
Martin Fassnacht, Wiebke Arlt, Irina Bancos, Henning Dralle, John Newell-Price, Anju Sahdev, Antoine Tabarin, Massimo Terzolo, Stylianos Tsagarakis, Olaf M Dekkers
: By definition, an adrenal incidentaloma is an asymptomatic adrenal mass detected on imaging not performed for suspected adrenal disease. In most cases, adrenal incidentalomas are nonfunctioning adrenocortical adenomas, but may also represent conditions requiring therapeutic intervention (e.g. adrenocortical carcinoma, pheochromocytoma, hormone-producing adenoma or metastasis). The purpose of this guideline is to provide clinicians with best possible evidence-based recommendations for clinical management of patients with adrenal incidentalomas based on the GRADE (Grading of Recommendations Assessment, Development and Evaluation) system...
August 2016: European Journal of Endocrinology
https://www.readbyqxmd.com/read/27034858/erythrocytosis-due-to-phd2-mutations-a-review-of-clinical-presentation-diagnosis-and-genetics
#10
Rachel Wilson, Nausheen Syed, Prabodh Shah
The association of mutations in the PHD2 protein of the hypoxia-sensing pathway and erythrocytosis has only been established in the last decade. Here we report the case of a novel PHD2 gene mutation in a patient with erythrocytosis and summarize all reported cases to date. Case Report. A 55-year-old man presented with dyspnea and a previous diagnosis of idiopathic erythrocytosis. PHD gene sequencing revealed a mutation on exon 2. The mutation was recognized as p.(Trp334(⁎)) (c. 1001G>A) resulting in a truncation of a highly conserved amino acid residue in catalytic domain...
2016: Case Reports in Hematology
https://www.readbyqxmd.com/read/26996779/pet-ct-comparing-68-ga-dotatate-and-other-radiopharmaceuticals-and-in-comparison-with-ct-mri-for-the-localization-of-sporadic-metastatic-pheochromocytoma-and-paraganglioma
#11
Ingo Janssen, Clara C Chen, Corina M Millo, Alexander Ling, David Taieb, Frank I Lin, Karen T Adams, Katherine I Wolf, Peter Herscovitch, Antonio T Fojo, Inga Buchmann, Electron Kebebew, Karel Pacak
PURPOSE: Pheochromocytomas/paragangliomas (PPGLs) and their metastases are tumors that predominantly express somatostatin receptor 2 (SSR2). (68)Ga-DOTA(0)-Tyr(3)-octreotate ((68)Ga-DOTATATE) is a PET radiopharmaceutical with both high and selective affinity for SSRs. The purpose of this study was to evaluate the utility of (68)Ga-DOTATATE in comparison with other specific and nonspecific radiopharmaceuticals recommended in the current guidelines for the localization of metastatic sporadic PPGL by PET/CT...
September 2016: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/26654542/-novel-methods-and-their-applicability-in-the-evaluation-of-the-genetic-background-of-endocrine-system-tumours
#12
REVIEW
Attila Patócs, István Likó, Henriett Butz, Kornélia Baghy, Károly Rácz
The technical developments leading to revolution in clinical genetic testing offer new approaches for patients with cancer. From one mutation or one gene approach the scale of genetic testing moved to whole exome or whole genome scale. It is well known that many tumours are genetically determined and they are part of familial tumour syndromes. In addition, some mutations indicate specific molecular targeted therapies. Although sampling and sample preparation are different for testing germline and somatic mutations, the technical background of the analysis is the same...
December 20, 2015: Orvosi Hetilap
https://www.readbyqxmd.com/read/26502667/-draft-guideline-regarding-appropriate-use-of-131i-mibg-radiotherapy-for-neuroendocrine-tumors-drafting-committee-for-guideline-of-radiotherapy-with-131i-mibg-committee-for-nuclear-oncology-and-immunology-the-japanese-society-of-nuclear-medicine
#13
Seigo Kinuya, Keiichiro Yoshinaga, Tetsuya Higuchi, Megumi Jinguji, Hiroshi Kawamoto, Hiroaki Kurihara
131I-MIBG radiotherapy has been used for unresectable nueroendocrine tumors including malignant pheochromocytomas and neuroblastomas in foreign countries since the '80s when clinical therapeutic trials were initiated. In Japan, 131I-MIBG radiotherapy has not been approved by Ministry of Health, Labor and Welfare, however, personally imported 131I-MIBG is now available in limited institutions for therapeutic purpose. This updated guideline draft aims to provide useful information concerning 131I-MIBG radiotherapy, to prevent side effects, and to protect physicians, nurses, other health care professionals, patients and their families from radiation exposure...
February 2015: Kaku Igaku. the Japanese Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/26451910/pheochromocytoma-screening-initiation-and-frequency-in-von-hippel-lindau-syndrome
#14
Rachel D Aufforth, Pooja Ramakant, Samira M Sadowski, Amit Mehta, Katarzyna Trebska-McGowan, Naris Nilubol, Karel Pacak, Electron Kebebew
CONTEXT: Patients with von Hippel-Lindau (VHL) syndrome have a 25-30% chance of developing pheochromocytoma. Although practice guidelines recommend biochemical and radiological screening every 1-2 years for pheochromocytoma in patients with VHL, there are limited data on the optimal age and frequency for screening. OBJECTIVE: Our objective was to determine the earliest age of onset and frequency of contralateral and recurrent pheochromocytomas in patients with VHL syndrome...
December 2015: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26435433/selective-strategy-for-intensive-monitoring-after-pheochromocytoma-resection
#15
Cassandre E Bénay, Mehdi Tahiri, Lawrence Lee, Evangelia Theodosopoulos, Amin Madani, Liane S Feldman, Elliot J Mitmaker
BACKGROUND: Guidelines recommend 24-48 hours of intensive monitoring after resection of pheochromocytoma. However, many patients do not require it. The objective of this study is to identify preoperative risk factors associated with postoperative hemodynamic instability (HDI) so as to select patients who may not require intensive postoperative monitoring. METHODS: Medical records of patients undergoing pheochromocytoma resection over a 12-year period were reviewed...
January 2016: Surgery
https://www.readbyqxmd.com/read/26354488/a-5-year-prospective-follow-up-study-of-lipid-rich-adrenal-incidentalomas-no-tumor-growth-or-development-of-hormonal-hypersecretion
#16
Camilla Schalin-Jäntti, Merja Raade, Esa Hämäläinen, Timo Sane
BACKGROUND: Current guidelines for follow-up of adrenal incidentalomas are extensive and hampered by lack of follow-up studies. We tested the hypothesis that small lipid-rich adrenal incidentalomas, initially characterized by tumor size <40 mm and <10 Hounsfield units (HUs) on unenhanced computed tomography (CT) may not demonstrate excessive growth/hormonal hypersecretion on follow-up. METHODS: Sixty-nine incidentalomas in 56 patients were restudied with unenhanced CT and screening for hypercortisolism (dexamethasone suppression test [DST], plasma adrenocorticotropic hormone) and pheochromocytoma (24-hour urinary metanephrines and normetanephrines) 5 years later...
December 2015: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26298909/-pheochromocytoma-and-paraganglioma
#17
Anne-Paule Gimenez-Roqueplo
Pheochromocytoma and functional paraganglioma (PH/PGL) are classical causes of secondary hypertension. The clinical practice guidelines for PH/PGL have been changed by the recent identification of a dozen of susceptibility genes. PH/PGL is the neuroendocrine tumor most affected by genetics. Total metanephrin should be measured in every young patient suffering of a resistant hypertension. The diagnosis is based on conventional imaging assciated with nuclear imaging. Genetic testing should be offered to every patient diagnosed for PH/PGL because the identification of a germline mutation, which is found in over 30% of the cases, will change his work-up and follow-up as well as offer the opportunity of a familial genetic testing in relatives...
June 2015: La Revue du Praticien
https://www.readbyqxmd.com/read/26177121/biochemical-testing-after-pheochromocytoma-removal-how-early
#18
T Zelinka, O Petrák, B Hamplová, H Turková, P Waldauf, J Rosa, Z Šomlóová, R Holaj, B Štrauch, T Indra, M Kršek, A Brabcová Vránková, A Brabcová Vránková, Z Musil, J Dušková, J Kubinyi, D Michalský, K Novák, J Widimský
Pheochromocytomas are catecholamine-producing tumors with typical clinical presentation. Tumor resection is considered as an appropriate treatment strategy. Due to its unpredictable clinical behavior, biochemical testing is mandatory to confirm the success of tumor removal after surgery. The aim of the study was to investigate the feasibility of a shorter interval of postoperative testing (earlier than the recommended 2-4 weeks according to recently published Guidelines). We investigated 81 patients with pheochromocytoma before and after surgery...
August 2015: Hormone and Metabolic Research, Hormon- und Stoffwechselforschung, Hormones et Métabolisme
https://www.readbyqxmd.com/read/26121453/clinical-outcomes-in-adrenal-incidentaloma-experience-from-one-center
#19
Jekaterina Patrova, Iwona Jarocka, Hans Wahrenberg, Henrik Falhammar
OBJECTIVE: To investigate the outcome in patients with adrenal incidentaloma (AI). METHODS: A retrospective evaluation of 637 patients with AI referred to a tertiary center over 8 years. Radiologic and hormonal evaluations were performed at baseline. Follow-up imaging was carried out if necessary, and hormonal evaluation was performed at 24 months according to national guidelines. RESULTS: The mean age was 62.7 ± 11.6 years, and the mean AI size was 25...
August 2015: Endocrine Practice
https://www.readbyqxmd.com/read/26024670/the-clinical-course-of-patients-with-adrenal-incidentaloma-is-it-time-to-reconsider-the-current-recommendations
#20
Darko Kastelan, Ivana Kraljevic, Tina Dusek, Nikola Knezevic, Mirsala Solak, Bojana Gardijan, Marko Kralik, Tamara Poljicanin, Tanja Skoric-Polovina, Zeljko Kastelan
OBJECTIVE: The current guidelines for the management of adrenal incidentaloma advise hormonal and radiological follow-up of patients for 2-5 years after the initial diagnosis. However, the vast majority of adrenal incidentaloma are non-functional benign cortical adenomas that require no treatment, so the routine application of the current strategies often results in a number of unnecessary biochemical and radiological investigations. The aim of this study was to analyse the clinical course of patients with adrenal incidentaloma and to provide a critical review of the current management strategy of the disease...
August 2015: European Journal of Endocrinology
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