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pheochromocytoma guidelines

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https://www.readbyqxmd.com/read/28721348/systematic-genetic-screening-in-a-prospective-group-of-danish-patients-with-pheochromocytoma
#1
Morten Steen Svarer Hansen, Niels Jacobsen, Anja Lisbeth Frederiksen, Lars Lund, Marianne Skovsager Andersen, Dorte Glintborg
Recent guidelines recommend consideration of genetic screening in all newly diagnosed patients with pheochromocytoma. Patients diagnosed with pheochromocytoma in the Region of Southern Denmark during 2006-2013 without previously recognized monogenetic etiology were offered genetic screening for mutations in the VHL, RET, SDHB, SDHC, and SDHD genes. A total of 41 patients were included, and genetic data were available in 35. In four of the 35 patients, a pathogenic variant was identified prior to the diagnosis of pheochromocytoma (von Hippel-Lindau disease, n=2; neurofibromatosis type 1, n=2)...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/28650583/von-hippel-lindau-development-in-children-and-adolescents
#2
Karoline Launbjerg, Iben Bache, Michael Galanakis, Marie Luise Bisgaard, Marie Louise M Binderup
The autosomal dominant von Hippel-Lindau disease (vHL) is associated with a lifelong risk of tumor development, especially retinal and CNS hemangioblastomas, pheochromocytoma, and renal cell carcinoma. Knowledge of paediatric vHL development is limited, and current surveillance guidelines are based on expert opinions. We aimed to describe the course of vHL development in children and adolescents, focusing on age at first manifestation, manifestation frequencies, and types. The prevalence of vHL diagnosis as well as manifestations in childhood were evaluated based on 99 patients, who had started surveillance before 18 years: 37 Danish patients from the national vHL research database and 62 international patients reported in 15 articles...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28649091/the-penetrance-of-men2-pheochromocytoma-is-not-only-determined-by-ret-mutations
#3
Frederic Castinetti, Ana Luiza Maia, Mariola Peczkowska, Marta Barontini, Kornelia Hasse-Lazar, Thera P Links, Rodrigo Almeida Toledo, Sarka Dvorakova, Caterina Mian, Maria Joao Bugalho, Stefania Zovato, Maria Alevizaki, Andrei Kvachenyuk, Birke Bausch, Paola Loli, Simona Raluca Bergmann, Attila Patocs, Marija Pfeifer, Fina Biarnes, Ernst von Dobschuetz, Claudio Letizia, Gerlof D Valk, Marcin Barczynski, Malgorzata Czetwertynska, John Tm Plukker, Paola Sartorato, Tomas Zelinka, Petr Vlcek, Svetlana Yaremchuk, Georges Weryha, Letizia Canu, Nelson Wohllk, Frederic Sebag, Martin K Walz, Charis Eng, Hartmut P H Neumann
Multiple endocrine neoplasia type 2A (MEN2A) is a rare syndrome which main component is medullary thyroid carcinoma (MTC). The natural history of MTC is mainly determined by RET mutations. The second main component of MEN2A is pheochromocytoma. The latest American Thyroid Association guidelines suggested ages to begin biological screening for pheochromocytoma depending on RET mutations. However, other factors could modify the natural history of pheochromocytoma. We collected data from a large international cohort, based on 812 patients, and grouped them according to 4 geographical areas: South America, Southern Europe, Central Europe and Western Europe...
June 25, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28643981/-adrenal-surgery-multidisciplinarity-is-mandatory
#4
Marie-Laure Matthey Gié, Marie Nicod Lalonde, Elena Gonzalez Rodriguez, Nicolas Demartines, Maurice Matter
Adrenal tumours are rare and their management is challenging. Every patient presenting with adrenal mass or symptoms of hormones hypersecretion should be investigated. The two important questions to be answered are : 1. Is the tumour secreting ? Is the tumour malignant or not ? A complete endocrine work-up and a nativ CT-scan may usually answer these two questions but have to be interpreted by specialists in a multidisciplinary team setting. The decisions about managements of adrenal pathologies do follow international guidelines which are regularly updated...
June 14, 2017: Revue Médicale Suisse
https://www.readbyqxmd.com/read/28384794/clinical-characterization-of-the-pheochromocytoma-and-paraganglioma-susceptibility-genes-sdha-tmem127-max-and-sdhaf2-for-gene-informed-prevention
#5
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
#6
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 (RET) 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 the 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 among the ATA risk levels...
June 1, 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
#7
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...
May 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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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