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Paraganglioma

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https://www.readbyqxmd.com/read/29147618/programmed-cell-death-ligands-expression-in-phaeochromocytomas-and-paragangliomas-relationship-with-the-hypoxic-response-immune-evasion-and-malignant-behavior
#1
David J Pinato, James R Black, Sebastian Trousil, Roberto E Dina, Pritesh Trivedi, Francesco A Mauri, Rohini Sharma
The hypoxic response underlies the pathogenesis and malignant behavior of PCC/PGL. Regulation of PD-1 receptor-ligand signaling, a therapeutically actionable driver of the anti-tumor immune response, is a hypoxic-driven trait across malignancies. We evaluated the prognostic role of PD ligands in association with biomarkers of hypoxia and angiogenesis in patients with PCC/PGL. Tissue microarrays sections including consecutive cases diagnosed between 1983-2011 were stained for PD-L1 and 2, hypoxia inducible factor 1a (Hif-1a), Carbonic Anhydrase IX (CaIX), Vascular Endothelial Growth Factor-A (VEGF-A)...
2017: Oncoimmunology
https://www.readbyqxmd.com/read/29147442/metastatic-malignant-paraganglioma-a-case-report-and-review-of-literature
#2
Carlo Angelo Prades, Bassel Atassi, Hamid Nazeer
Metastasis is a rare presentation of non-secretory paraganglioma. Consequently, there is no standard of care for the treatment of metastatic malignant paraganglioma. The most widely used chemotherapy regimen for non-resectable cases includes cyclophosphamide, vincristine, and dacarbazine (CVD). CVD has been previously studied with variable therapeutic response. However, yttrium-90 (Y90) radioembolization has not been previously studied in the treatment of hepatic metastasis in patients diagnosed with malignant paraganglioma...
June 2017: World Journal of Oncology
https://www.readbyqxmd.com/read/29144820/pheochromocytoma-a-genetic-and-diagnostic-update
#3
Leilani B Mercado-Asis, Katherine I Wolf, Ivana Jochmanova, David Taïeb
OBJECTIVE: Pheochromocytomas and paragangliomas (PPGLs) are neuroendocrine tumors derived from adrenal or extra-adrenal locations, respectively. Upon suspicion of PPGL, specific metabolomic, molecular, biochemical, imaging, and histopathological studies are performed to prove, localize, treat, and monitor disease progression. Recently, improved diagnostic tools allow physicians to accurately diagnose PPGL, even in patients presenting with small (less than 1 cm) or biochemically silent tumors, which previously delayed proper detection and treatment...
November 16, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/29142369/utility-of-18-f-fluorodeoxyglucose-positron-emission-tomography-magnetic-resonance-imaging-in-the-diagnosis-of-cardiac-paraganglioma
#4
Nicholas Bhojwani, Jennifer Huang, Vasant Garg, Michael Yang, Guilherme H Oliveira, Prabhakar Rajiah
Cardiac paragangliomas are rare tumors of neural crest origin, most frequently seen in the left atrium. There are mixed opinions regarding the most appropriate imaging study for diagnosis and evaluation. We describe the novel utility of 18-F-Fluorodeoxyglucose positron emission tomography/magnetic resonance imaging in the case of a 42-year-old male with cardiac paraganglioma.
October 2017: Indian Journal of Nuclear Medicine: IJNM: the Official Journal of the Society of Nuclear Medicine, India
https://www.readbyqxmd.com/read/29135870/the-importance-of-using-the-modified-fisch-classification-and-the-determination-of-the-natural-rate-of-growth-of-tumor-by-wait-and-scan-approach-before-offering-radiosurgery-for-tympanojugular-paragangliomas
#5
https://www.readbyqxmd.com/read/29134169/age-and-tumor-volume-predict-growth-of-carotid-and-vagal-body-paragangliomas
#6
Berdine L Heesterman, Lisa M H de Pont, Berit M Verbist, Andel G L van der Mey, Eleonora P M Corssmit, Frederik J Hes, Peter Paul G van Benthem, Jeroen C Jansen
Objective  Treatment for head and neck paragangliomas (HNGPL) can be more harmful than the disease. After diagnosis, an initial period of surveillance is often indicated, and surgery or radiotherapy is reserved for progressive disease. With the aim to optimize this "wait and scan" strategy, we studied growth and possible predictors. Design  A retrospective cohort study was conducted. Setting  This study was conducted at a tertiary referral center for patients with HNGPL. Methods  Tumor volume was estimated for 184 SDHD -related carotid and vagal body paragangliomas using sequential magnetic resonance imaging...
December 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/29130501/tert-promoter-hypermethylation-is-associated-with-metastatic-disease-in-abdominal-paraganglioma
#7
Fredrika Svahn, C Christofer Juhlin, Johan O Paulsson, Omid Fotouhi, Jan Zedenius, Catharina Larsson, Adam Stenman
Telomere maintenance, a hallmark of cancer for cell immortalization, is commonly achieved by telomerase activation through induction of the telomerase reverse transcriptase (TERT) gene. Pheochromocytomas (PCC) and abdominal paragangliomas (PGL) (together PPGL) are endocrine tumours for which TERT promoter mutations and telomerase activation have been previously reported [1]. Only 10-15% of PPGL metastasize, however in the absence of metastases, the identification of malignant disease is a diagnostic dilemma...
November 11, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/29127250/malignant-peripheral-nerve-sheath-tumours-of-the-pericardium-in-a-patient-with-neurofibromatosis-type-1-the-diagnostic-value-of-18f-fdg-pet-ct-and-i-123-mibg-spect-ct
#8
Mathieu Charest, Josephine Pressacco, Jaramie Thomas-Gittens
A 25 year old female with known neurofibromatosis type 1 with a large anterior mediastinal mass was investigated. F18-FDG PET-CT revealed a radiotracer avid anterior mediastinal mass with SUVmax of 4.3 and demonstrating a hypoactive center. The Iodine-123 MIBG SPECT-CT study performed subsequently did not demonstrate any uptake, thereby excluding for the most part the diagnoses of paraganglioma or neuroblastoma. At final pathology, a malignant peripheral nerve sheath tumour (MPNST) of the pericardium with areas of chondrosarcomatous and angiosarcomatous differentiation was diagnosed...
November 10, 2017: Journal of Nuclear Medicine Technology
https://www.readbyqxmd.com/read/29126554/preoperative-genetic-testing-in-pheochromocytomas-and-paragangliomas-influences-the-surgical-approach-and-the-extent-of-adrenal-surgery
#9
Pavel Nockel, Mustapha El Lakis, Apostolos Gaitanidis, Lily Yang, Roxanne Merkel, Dhaval Patel, Naris Nilubol, Tamara Prodanov, Karel Pacak, Electron Kebebew
BACKGROUND: Our knowledge of the susceptibility genes for pheochromocytomas/paragangliomas has increased; however, data on its impact on surgical decision-making has not been described. The aim of this study was to determine the effect of routine preoperative genetic testing on the operative intervention in patients with pheochromocytomas/paragangliomas. METHODS: One-hundred-eight patients diagnosed with pheochromocytomas/paragangliomas who underwent 118 operations had preoperative genetic testing for 9 known pheochromocytoma/paraganglioma susceptibility genes...
November 7, 2017: Surgery
https://www.readbyqxmd.com/read/29126304/sdhc-promoter-methylation-a-novel-pathogenic-mechanism-in-parasympathetic-paragangliomas
#10
Cristóbal Bernardo-Castiñeira, Nuria Valdés, Marta I Sierra, Inés Sáenz-de-Santa-María, Gustavo F Bayón, Raúl F Perez, Agustín F Fernández, Mario F Fraga, Aurora Astudillo, Rafael Menéndez, Belén Fernández, Maribel Del Olmo, Carlos Suarez, María-Dolores Chiara
Context: Germline mutations in the succinate dehydrogenase A, B, C, and D genes (collectively, SDHx) predispose to the development of paragangliomas (PGLs) arising at the parasympathetic or sympathetic neuroendocrine systems. SDHx mutations cause absence of tumoral immunostaining for SDHB. However, negative SDHB-immunostaining has also been found in a subset of PGLs that lack SDHx mutations. Settings: Here, we report the comprehensive molecular characterization of one such a tumor of parasympathetic origin compared with healthy paraganglia and other PGLs with or without SDHx mutations...
November 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29124493/genotype-phenotype-correlation-in-asian-indian-von-hippel-lindau-vhl-syndrome-patients-with-pheochromocytoma-paraganglioma
#11
Nilesh Lomte, Sanjeet Kumar, Vijaya Sarathi, Reshma Pandit, Manjunath Goroshi, Swati Jadhav, Anurag R Lila, Tushar Bandgar, Nalini S Shah
The data in genotype-phenotype correlation in Indian von Hippel-Lindau (VHL) patients is limited. We have retrospectively studied 31 genetically proven VHL patients with pheochromocytoma/paraganglioma (PCC/PGL) from families and have reviewed the World literature on PCC/PGL in patients with large VHL deletions. Three patients had large deletions and 28 patients had other mutations [missense mutations in 25, 3 bp deletion in 2 and single bp duplication in one]. Unilateral PCC were significantly more common in patients with large VHL deletions whereas multiple PCC (bilateral PCC or PCC + sympathetic PGL) were significantly more common in those with other mutations...
November 9, 2017: Familial Cancer
https://www.readbyqxmd.com/read/29121733/pheochromocytoma-as-a-reversible-cause-of-cardiomyopathy-analysis-and-review-of-the-literature
#12
Rong Zhang, Deepashree Gupta, Stewart G Albert
CONTEXT: Pheochromocytoma and paraganglioma are rare neuroendocrine tumors which overproduce catecholamines and arise from the adrenal gland or extra-adrenal chromaffin cells of the sympathetic and parasympathetic ganglia (1). Excessive catecholamine-induced stimulation of cardiac myocytes leads to damage which manifests in several forms ranging from Takotsubo to dilated cardiomyopathy. Diagnosis of pheochromocytoma-related cardiomyopathies is often delayed due to the atypical presentation associated with many cases...
December 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/29120654/-diagnosis-and-management-of-metastatic-pheochromocytoma-and%C3%A2-paraganglioma
#13
Ivana Jochmanová, Ivica Lazúrová
Pheochromocytoma (PHEO) and paraganglioma (PGL) are rare catecholamine-producing neuroendocrine tumors arising from adrenal medulla or extra-adrenal sympathetic and parasympathetic ganglia. Most of the PHEOs/PGLs are benign tumors, but metastatic disease is common, especially in patients with particular genetic background. Although PHEOs/PGLs were described more than a century ago, diagnosis and therapy of metastatic disease are still challenging. Advances in understanding molecular and metabolic changes associated with tumorigenesis lead us to identification of the background of these tumors...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29117599/unilateral-tongue-fasciculation-associated-with-genetic-paraganglioma-syndrome
#14
Ingo Borggraefe, Wolfgang Mueller-Felber, Irene Schmid, Sebastian Huetker
No abstract text is available yet for this article.
November 8, 2017: Neuropediatrics
https://www.readbyqxmd.com/read/29117221/validation-of-pathological-grading-systems-for-predicting-metastatic-potential-in-pheochromocytoma-and-paraganglioma
#15
Jung-Min Koh, Seong Hee Ahn, Hyeonmok Kim, Beom-Jun Kim, Tae-Yon Sung, Young Hoon Kim, Suck Joon Hong, Dong Eun Song, Seung Hun Lee
PURPOSE: The Grading system for Adrenal Pheochromocytoma and Paraganglioma (GAPP) was proposed for predicting the metastatic potential of pheochromocytoma and paraganglioma to overcome the limitations of the Pheochromocytoma of the Adrenal Scaled Score (PASS). However, to date, no study validating the GAPP has been conducted, and previous studies did not include mutations in the succinate dehydrogenase type B (SDHB) gene in the score calculation. In this retrospective cohort study, we validated the prediction ability of GAPP and assessed whether it would be improved by inclusion of the loss of SDHB immunohistochemical staining...
2017: PloS One
https://www.readbyqxmd.com/read/29113559/proceedings-of-the-2017-national-toxicology-program-satellite-symposium
#16
Susan A Elmore, Famke Aeffner, Dinesh S Bangari, Torrie A Crabbs, Stacey Fossey, Shayne C Gad, Wanda M Haschek, Jessica S Hoane, Kyathanahalli Janardhan, Ramesh C Kovi, Gail Pearse, Lyn M Wancket, Erin M Quist
The 2017 annual National Toxicology Program Satellite Symposium, entitled "Pathology Potpourri," was held in Montreal, Quebec, Canada at the Society of Toxicologic Pathology's 36th annual meeting. The goal of this symposium was to present and discuss challenging diagnostic pathology and/or nomenclature issues. This article presents summaries of the speakers' talks along with select images that were used by the audience for voting and discussion. Various lesions and other topics covered during the symposium included renal papillary degeneration in perinatally exposed animals, an atriocaval mesothelioma, an unusual presentation of an alveolar-bronchiolar carcinoma, a paraganglioma of the organ of Zuckerkandl (also called an extra-adrenal pheochromocytoma), the use of human muscle samples to illustrate the challenges of manual scoring of fluorescent staining, intertubular spermatocytic seminomas, medical device pathology assessment and discussion of the approval process, collagen-induced arthritis, incisor denticles, ameloblast degeneration and poorly mineralized enamel matrix, connective tissue paragangliomas, microcystin-LR toxicity, perivascular mast cells in the forebrain thalamus unrelated to treatment, and 2 cases that provided a review of the International Harmonization of Nomenclature and Diagnostic Criteria (INHAND) bone nomenclature and recommended application of the terminology in routine nonclinical toxicity studies...
January 1, 2017: Toxicologic Pathology
https://www.readbyqxmd.com/read/29099942/phase-1-study-of-high-specific-activity-i-131-mibg-for-metastatic-and-or-recurrent-pheochromocytoma-or-paraganglioma
#17
Richard B Noto, Daniel A Pryma, Jessica Jensen, Tess Lin, Nancy Stambler, Thomas Strack, Vivien Wong, Stanley J Goldsmith
Context: There are no approved therapies for the treatment of metastatic and/or recurrent pheochromocytoma or paraganglioma (PPGL) in the United States. Objective: To determine the maximum tolerated dose (MTD) of high-specific-activity I-131 meta-iodobenzylguanidine (MIBG) for the treatment of metastatic and/or recurrent PPGL. Design: Phase 1, dose escalating study to determine the MTD via a standard 3+3 design; escalating by 37 MBq/kg starting at 222 MBq/kg...
November 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/29099418/temozolomide-treatment-of-a-malignant-pheochromocytoma-and-an-unresectable-max-related-paraganglioma
#18
Alfonso M Ferrara, Giuseppe Lombardi, Ardi Pambuku, Domenico Meringolo, Roberta Bertorelle, Margherita Nardin, Francesca Schiavi, Maurizio Iacobone, Giuseppe Opocher, Vittorina Zagonel, Stefania Zovato
Pheochromocytomas (PCCs) and paragangliomas (PGLs) are neuroendocrine tumors with a strong genetic background. The mainstay of treatment for PCC/PGLs is surgery. However, for unresectable lesions, no curative treatment is currently available. Temozolomide (TMZ) has been shown to determine radiological and biochemical response in malignant PCC/PGLs. We report two cases of PCC/PGLs treated with TMZ. Case 1 is a 51-year-old man with local and distant recurrence (liver and bone metastases) of right adrenal PCC...
November 2, 2017: Anti-cancer Drugs
https://www.readbyqxmd.com/read/29081018/treatment-for-malignant-pheochromocytomas-and-paragangliomas-5%C3%A2-years-of-progress
#19
REVIEW
Paola Jimenez, Claudio Tatsui, Aaron Jessop, Sonali Thosani, Camilo Jimenez
PURPOSE OF REVIEW: The purpose of this manuscript is to review the progress in the field of therapeutics for malignant pheochromocytomas and sympathetic paraganglioma (MPPG) over the past 5 years. RECENT FINDINGS: The manuscript will describe the clinical predictors of survivorship and their influence on the first TNM staging classification for pheochromocytomas and sympathetic paragangliomas, the treatment of hormonal complications, and the rationale that supports the resection of the primary tumor and metastases in patients with otherwise incurable disease...
October 28, 2017: Current Oncology Reports
https://www.readbyqxmd.com/read/29079178/the-utility-of-sdhb-and-fh-immunohistochemistry-in-patients-evaluated-for-hereditary-paraganglioma-pheochromocytoma-syndromes
#20
Aaron M Udager, Martin J Magers, Dayna M Goerke, Michelle L Vinco, Javed Siddiqui, Xuhong Cao, David R Lucas, Jeffrey L Myers, Arul M Chinnaiyan, Jonathan B McHugh, Thomas J Giordano, Tobias Else, Rohit Mehra
A significant portion of paragangliomas (PGL) and pheochromocytomas (PCC) occur in patients with hereditary PGL/PCC syndromes, including those with germline mutations in succinate dehydrogenase (SDHx) subunit genes. Recently, germline fumarate hydratase (FH) mutations have been identified in a subset of PGL/PCC, and patients with hereditary leiomyomatosis and renal cell carcinoma (HLRCC) may have an increased risk of developing PGL/PCC. SDHB immunohistochemistry (IHC) has previously been shown to be useful for identifying SDHx-deficient PGL/PCC, however, FH IHC has never been explored in these tumors...
October 24, 2017: Human Pathology
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