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Paraganglioma

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https://www.readbyqxmd.com/read/28099933/loss-of-maternal-chromosome-11-is-a-signature-event-in-sdhaf2-sdhd-and-vhl-related-paragangliomas-but-less-significant-in-sdhb-related-paragangliomas
#1
Attje S Hoekstra, Erik F Hensen, Ekaterina S Jordanova, Esther Korpershoek, Anouk Na van der Horst-Schrivers, Cees Cornelisse, Eleonora Pm Corssmit, Frederik J Hes, Jeroen C Jansen, Henricus Pm Kunst, Henri Jlm Timmers, Adrian Bateman, Diana Eccles, Judith Vmg Bovée, Peter Devilee, Jean-Pierre Bayley
Germline mutations in the succinate dehydrogenase (SDHA, SDHB, SDHC, SDHD, SDHAF2) or Von Hippel-Lindau (VHL) genes cause hereditary paraganglioma/pheochromocytoma. While SDHB (1p36) and VHL (3p25) are associated with autosomal dominant disease, SDHD (11q23) and SDHAF2 (11q13) show a remarkable parent-of-origin effect whereby tumor formation is almost completely dependent on paternal transmission of the mutant allele. Loss of the entire maternal copy of chromosome 11 occurs frequently in SDHD-linked tumors, and has been suggested to be the basis for this typical inheritance pattern...
January 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28093684/portocaval-paraganglioma-first-case-report-and-review-of-literature
#2
Kaushal Yadav, Satyam Taneja, Rajiv Dang, Shreeja Menon, Gaurav Kapoor, Ashish Patil, Akash Banwari
No abstract text is available yet for this article.
January 17, 2017: Journal of Gastrointestinal Cancer
https://www.readbyqxmd.com/read/28090263/right-atrial-paraganglioma-an-extremely-rare-primary-cardiac-neoplasm-mimicking-myxoma
#3
Ashok Garg, Deepika Mishra, Manish Bansal, Hari Ram Maharia, Vikram Goyal
In this report, we present a case of 35-year-old lady who had presented with atypical chest pain and exertional breathlessness for past six months. Transthoracic and transesophageal echocardiograms showed a well-circumscribed, echo-dense mass in the right atrium, attached to the interatrial septum at the level of atrioventricular junction and in the vicinity of coronary sinus ostium. She underwent successful resection of the cardiac mass. Histopathology revealed paraganglioma, which was reconfirmed by immunohistochemistry study...
December 2016: Journal of Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28088216/immunohistochemical-features-of-giant-cell-ependymoma-of-the-filum-terminale-with-unusual-clinical-and-radiological-presentation
#4
Fernando Candanedo-Gonzalez, Cindy Sharon Ortiz-Arce, Samuel Rosales-Perez, Ana Lilia Remirez-Castellanos, Candelaria Cordova-Uscanga, Armando Gamboa-Dominguez
BACKGROUND: Giant cell ependymoma of the filum terminale is a rare variant, generally manifested as a well-circunscribed intradural mass with an indolent biological behavior. CASE PRESENTATION: We describe the case of a 48-year-old Mexican female who non-relevant past medical history, that developed a GCE of the filum terminale. Magnetic resonance imaging and computed tomography revealed the presence of an intra-axial tumor extending from L3 to L5 with extra-medullary invasion...
January 14, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28070496/utility-of-the-succinate-fumarate-ratio-for-assessing-sdh-dysfunction-in-different-tumor-types
#5
Edward Kim, Michael Jp Wright, Loretta Sioson, Talia Novos, Anthony J Gill, Diana E Benn, Christopher White, Trisha Dwight, Roderick J Clifton-Bligh
OBJECTIVE: Mutations of genes encoding the four subunits of succinate dehydrogenase (SDH) have been associated with pheochromocytoma and paraganglioma (PPGLs), gastrointestinal stromal tumors (GISTs) and renal cell carcinomas (RCCs). These tumors have not been characterized in a way that reflects severity of SDH dysfunction. Mass spectrometric analysis now allows measurement of metabolites extracted from formalin fixed paraffin embedded (FFPE) specimens. We assess whether SDH deficiency in various tumor types characterized by loss of SDHB protein expression correlates with SDH dysfunction as assessed by the ratio of succinate:fumarate in FFPE specimens...
March 2017: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/28058556/surgical-treatment-of-malignant-pheochromocytoma-and-paraganglioma-retrospective-case-series
#6
Veljko Strajina, Benzon M Dy, David R Farley, Melanie L Richards, Travis J McKenzie, Keith C Bible, Florencia G Que, David M Nagorney, William F Young, Geoffrey B Thompson
INTRODUCTION: Pheochromocytoma and paraganglioma (PPGL) are rare neoplasms; about 10% are malignant. Literature regarding possible benefit from resection is extremely limited. METHODS: A 20 year review of all patients undergoing surgery for malignant PPGL at the Mayo Clinic Rochester Campus between 1994 and June 2014 was performed. RESULTS: We identified 34 patients undergoing surgery for malignant PPGL. Median follow up was 6 and 5 years survival was 90% (median 11 years)...
January 5, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28050791/radiological-diagnosis-of-perinephric-pathology-pictorial-essay-2015
#7
REVIEW
Goran Mitreski, Tom Sutherland
: The perinephric space, shaped as an inverted cone, sits between the anterior and posterior renal fasciae. It can play host to a variety of clinical conditions encountered daily in the reporting schedule for a radiologist. Lesions may be classified and diagnosed based on their imaging characteristics, location and distribution. A broad range of differential diagnoses can be attributed to pathology sitting within this space, often without clinical signs or symptoms. An understanding of commonly encountered conditions affecting the perinephric space, along with characteristic imaging findings, can illustrate and often narrow the likely diagnosis...
January 3, 2017: Insights Into Imaging
https://www.readbyqxmd.com/read/28050631/head-to-head-comparison-between-18-f-fdopa-pet-ct-and-mr-ct-angiography-in-clinically-recurrent-head-and-neck-paragangliomas
#8
Céline Heimburger, Francis Veillon, David Taïeb, Bernard Goichot, Sophie Riehm, Julie Petit-Thomas, Gerlinde Averous, Marcela Cavalcanti, Fabrice Hubelé, Gerard Chabrier, Izzie Jacques Namer, Anne Charpiot, Alessio Imperiale
PURPOSE: Head and neck paragangliomas (HNPGLs) can relapse after primary treatment. Optimal imaging protocols have not yet been established for posttreatment evaluation. The aim of the present study was to assess the diagnostic value of (18)F-FDOPA PET/CT and MR/CT angiography (MRA/CTA) in HNPGL patients with clinical relapse during their follow-up. METHODS: Sixteen consecutive patients presenting with local pain, tinnitus, dysphagia, hoarse voice, cranial nerve involvement, deafness, or retrotympanic mass appearing during follow-up after the initial treatment of HNPGLs were retrospectively evaluated...
January 3, 2017: European Journal of Nuclear Medicine and Molecular Imaging
https://www.readbyqxmd.com/read/28049034/hypervascular-lesions-of-the-cerebellopontine-angle-the-relevance-of-angiography-as-a-diagnostic-and-therapeutic-tool-and-the-role-of-stereotactic-radiosurgery-in-management-a-comprehensive-review
#9
REVIEW
Yosef Laviv, Ajith Thomas, Ekkehard M Kasper
The cerebellopontine angle (CPA) is a narrowed skull base area, containing important cranial nerves and vessels and bordering with eloquent areas of the posterior fossa. Tumors of the CPA are a heterogeneous group and can arise extradural, intradural-extraaxial or intraaxial. Accordingly, their vascular supply changes, depending on their anatomical origin. Symptomatic, large CPA tumors require surgical resection in order to prevent irreversible, severe neurological damages. However, its tight and strategical location make surgery in the CPA very challenging and require appropriate pre-surgical planning...
December 31, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28043156/absence-of-braf-mutation-in-pheochromocytoma-and-paraganglioma
#10
T Vosecka, A Vicha, T Zelinka, P Jencova, K Pacak, J Duskova, J Benes, A Guha, L Stanek, M Kohoutova, Z Musil
Pheochromocytomas and Paragangliomas (PHEO/PARA) are rare endocrine tumors originating from the adrenal medulla. More than 20 genes are involved in the tumorigenesis of these tumors, but a substantial part of the causative genetic events remains unexplained. A recent study has reported the presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. Other studies have not find this mutation. This study investigates the occurrence of the BRAF V600E mutation in these tumors...
January 3, 2017: Neoplasma
https://www.readbyqxmd.com/read/28036268/role-of-vhl-hif1a-and-sdh-on-the-expression-of-mir-210-implications-for-tumoral-pseudo-hypoxic-fate
#11
Anna Merlo, Cristóbal Bernardo-Castiñeira, Inés Sáenz-de-Santa-María, Ana S Pitiot, Milagros Balbín, Aurora Astudillo, Nuria Valdés, Bartolomé Scola, Raquel Del Toro, Simón Méndez-Ferrer, José I Piruat, Carlos Suarez, María-Dolores Chiara
The hypoxia-inducible factor 1α (HIF-1α) and its microRNA target, miR-210, are candidate tumor-drivers of metabolic reprogramming in cancer. Neuroendocrine neoplasms such as paragangliomas (PGLs) are particularly appealing for understanding the cancer metabolic adjustments because of their associations with deregulations of metabolic enzymes, such as succinate dehydrogenase (SDH), and the von Hippel Lindau (VHL) gene involved in HIF-1α stabilization. However, the role of miR-210 in the pathogenesis of SDH-related tumors remains an unmet challenge...
December 27, 2016: Oncotarget
https://www.readbyqxmd.com/read/28033222/relevant-discordance-between-68ga-dotatate-and-68ga-dotanoc-in-sdhb-related-metastatic-paraganglioma-is-affinity-to-somatostatin-receptor-2-the-key
#12
Ingo Janssen, Katherine I Wolf, Chan H Chui, Corina M Millo, Karel Pacak
Pheochromocytomas/paragangliomas are somatostatin receptor 2-overexpressing tumors. Ga-DOTA-peptide imaging has recently shown excellent results in the detection of metastatic lesions in these tumors. However, currently used Ga-DOTA peptides show different somatostatin receptor affinities. Here, we report the remarkable differences in a patient who was imaged with Ga-DOTANOC and Ga-DOTATATE PET/CT within a 7-month period. The patient presented with a nearly negative Ga-DOTANOC PET/CT scan, whereas on Ga-DOTATATE PET/CT, multiple highly positive lesions were identified...
December 28, 2016: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28028970/diagnostic-and-therapeutic-difficulties-in-carotid-body-paragangliomas-based-on-clinical-experience-and-a-review-of-the-literature
#13
Karolina Dorobisz, Tadeusz Dorobisz, Hanna Temporale, Tomasz Zatoński, Marzena Kubacka, Mariusz Chabowski, Andrzej Dorobisz, Tomasz Kręcicki, Dariusz Janczak
BACKGROUND: Paragangliomas are rare neuroendocrine tumors, representing 0.03% of all tumors. Half of them develop in the head and neck, and among these 50% are sporadic cervical tumors. OBJECTIVES: The aim of the study was to carry out an epidemiological and clinical analysis of paraganglioma patients diagnosed and treated at the authors' clinics between 1985 and 2014. MATERIAL AND METHODS: The medical data of 47 patients were analyzed. All the patients were qualified for surgery...
November 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/28011503/surgical-resection-of-giant-pheochromocytomas-arising-behind-the-retrohepatic-inferior-vena-cava
#14
Yuji Soejima, Tomoharu Yoshizumi, Toru Ikegami, Norifumi Harimoto, Shinji Ito, Noboru Harada, Takashi Motomura, Akihisa Nagatsu, Tetsuo Ikeda, Yoshihiko Maehara
BACKGROUND: Surgical resection of retrocaval giant pheochromocytomas (PCs) and of extra-adrenal paragangliomas (EAPs) is a technically challenging procedure but data on these procedures are scarce. The purpose of this study was to present and evaluate our surgical results for such tumors. PATIENTS AND METHODS: We retrospectively analyzed four consecutive patients who had surgery for giant retro-caval PCs and EAPs in terms of surgical technique, resectability of the tumor, requirement for bypass, and postoperative complications...
January 2017: Anticancer Research
https://www.readbyqxmd.com/read/28011310/a-rarity-in-a-common-disease-thyroid-paraganglioma
#15
Jutarat Sangtian, Maria Rae Evasovich, Tasma Harindhanavudhi
No abstract text is available yet for this article.
December 20, 2016: American Journal of Medicine
https://www.readbyqxmd.com/read/28011121/temporal-bone-paragangliomas-15-years-experience
#16
Mehmet Düzlü, Hakan Tutar, Recep Karamert, Furkan Karaloğlu, Muammer Melih Şahin, Mehmet Göcek, Mehmet Birol Uğur, Nebil Göksu
INTRODUCTION: Temporal bone paragangliomas (TBPs) are benign tumors arising from neural crest cells located along the jugular bulbus and the tympanic plexus. In general surgical excision, radiotherapy and wait-and-scan protocols are the main management modalities for TBPs. OBJECTIVE: In this paper we aim to present our clinical experience with TBPs and to review literature data. METHODS: The patients who were operated for tympanomastoid paraganglioma (TMP) or tympanojugular paraganglioma (TJP) in our clinic in the last 15 years were enrolled in the study...
December 8, 2016: Brazilian Journal of Otorhinolaryngology
https://www.readbyqxmd.com/read/28007876/cardiac-paraganglioma-originating-from-the-right-coronary-artery
#17
Theo J Klinkenberg, Anouk N A van der Horst-Schrivers, Wobbe Bouma, Massimo A Mariani
No abstract text is available yet for this article.
December 22, 2016: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28001459/long-term-effect-of-adrenalectomy-on-cardiovascular-remodeling-in-patients-with-pheochromocytoma
#18
Bohumil Majtan, Tomáš Zelinka, Ján Rosa, Ondřej Petrák, Zuzana Krátká, Branislav Štrauch, Vladimír Tuka, Alice Vránková, David Michalský, Květoslav Novák, Dan Wichterle, Jiří Widimský, Robert Holaj
CONTEXT: Catecholamines may contribute to the accumulation of collagen fibers and extracellular matrix in the arterial and myocardial wall due to various mechanisms. Reversibility of this process has not been studied on both structures simultaneously. OBJECTIVE: This study aimed to clarify the long-term effect of catecholamines' excess normalization on carotid and myocardial wall changes in patients with pheochromocytoma or functional paraganglioma (PHEO) after tumor removal...
December 21, 2016: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/27999715/secretory-paraspinal-paraganglioma-of-thoracolumar-spine-case-report-and-review-of-literature
#19
Saad Akhtar, Sidra Sattar, Ehsan Bari, Naila Kayani, Sarosh Moeen
BACKGROUND: Pheochromocytomas are catecholamine secreting tumors of the adrenal medulla chromaffin cells, however, when present extra-adrenally they are called paragangliomas. Paragangliomas rarely produce catecholamine in excess, which is evident by clinical symptoms, urine, and blood biochemistry. Total resection of these tumors can lead to complete clinical and biochemical resolution. This case report presents the clinical features, radiological findings, and neurological outcome in a middle-aged female with a secretory paraganglioma...
2016: Surgical Neurology International
https://www.readbyqxmd.com/read/27992508/disentangling-of-malignancy-from-benign-pheochromocytomas-paragangliomas
#20
Kyong Young Kim, Jung Hee Kim, A Ram Hong, Moon-Woo Seong, Kyu Eun Lee, Su-Jin Kim, Sang Wan Kim, Chan Soo Shin, Seong Yeon Kim
OBJECTIVE: Many malignant tumors initially appear benign but subsequently exhibit extensive metastases. Early identification of malignant pheochromocytomas and paragangliomas (PPGLs) before metastasis is important for improved prognosis. However, there are no robust prognostic indices of recurrence and malignancy. The aim of this study was to identify the clinical and histopathological factors that predict malignant PPGLs. DESIGN: Retrospective follow-up study. METHODS: In this study, we included 223 patients with pathologically confirmed PPGLs who were treated between 2000 and 2015 at the Seoul National University Hospital in South Korea...
2016: PloS One
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