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https://www.readbyqxmd.com/read/28515046/kif1b-and-nf1-are-the-most-frequently-mutated-genes-in-paraganglioma-tumors
#1
Lucie Evenepoel, Raphaël Helaers, Laurent Vroonen, Selda Aydin, Marc Hamoir, Dominique Maiter, Miikka Vikkula, Alexandre Persu
Dear Editor, Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal paraganglia, respectively. Forty percent are explained by germline mutations in known susceptibility genes. Furthermore, somatic mutations were identified in an additional 30% of PPGL, mostly in NF1, RET, VHL, MAX, and HRAS. However, screening is limited to a few studies mainly using Sanger sequencing (Burnichon, et al. 2012; Burnichon, et al. 2011; Crona, et al. 2013; Luchetti, et al...
May 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28514390/-gangliocytic-paraganglioma-of-the-duodenum
#2
O V Rykov, T T Bitarov, A L Shestakov
No abstract text is available yet for this article.
2017: Khirurgiia
https://www.readbyqxmd.com/read/28508602/succinate-dehydrogenase-deficient-paragangliomas-pheochromocytomas-genetics-clinical-aspects-and-mini-review
#3
Larisa Rusyn, Brenda Kohn
No abstract text is available yet for this article.
March 2017: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/28504904/application-of-panel-based-tests-for-inherited-risk-of-cancer
#4
Payal D Shah, Katherine L Nathanson
Next-generation or massively parallel sequencing has transformed the landscape of genetic testing for cancer susceptibility. Panel-based genetic tests evaluate multiple genes simultaneously and rapidly. Because these tests are frequently offered in clinical settings, understanding their clinical validity and utility is critical. When evaluating the inherited risk of breast and ovarian cancers, panel-based tests provide incremental benefit compared with BRCA1/2 genetic testing. For inherited risk of other cancers, such as colon cancer and pheochromocytoma-paraganglioma, the clinical utility and yield of panel-based testing are higher; in fact, simultaneous evaluation of multiple genes has been the historical standard for these diseases...
May 15, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28503760/the-penetrance-of-paraganglioma-and-pheochromocytoma-in-sdhb-germline-mutation-carriers
#5
Johannes A Rijken, Nicolasine D Niemeijer, Marianne A Jonker, Karin Eijkelenkamp, Jeroen C Jansen, Anouk van Berkel, Henri J L M Timmers, Henricus P M Kunst, Peter H L T Bisschop, Michiel N Kerstens, Koen M A Dreijerink, Marieke F van Dooren, Anouk N A van der Horst-Schrivers, Frederik J Hes, C René Leemans, Eleonora P M Corssmit, Erik F Hensen
Germline mutations in SDHB predispose to hereditary paraganglioma syndrome type 4. The risk of developing paraganglioma (PGL) or pheochromocytoma (PHEO) in SDHB mutation carriers is subject of recent debate. In the present nationwide cohort study of SDHB mutation carriers identified by the clinical genetics centers of the Netherlands, we have calculated the penetrance of SDHB associated tumors using a novel maximum likelihood estimator. This estimator addresses ascertainment bias and missing data on pedigree size and structure...
May 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28500238/sdha-mutated-paragangliomas-may-be-at-high-risk-of-metastasis
#6
Nicola Tufton, Rahul Ghelani, Umasuthan Srirangalingam, V K Ajith Kumar, William Drake, Donato Iacovazzo, Kassiani Skordilis, Daniel M Berney, Ma'en Al-Mrayat, Bernard Khoo, Scott Akker
We report the clinical outcomes of eleven patients with succinate dehydrogenase subunit A (SDHA) germline mutations from three UK tertiary referral centres to highlight a more diverse and expanding clinical spectrum of associated phenotypes. We suggest that SDHA paraganglioma related disease is not a low risk condition as first described. Of our six index cases, two developed metastatic disease and a further one had local vascular invasion. One patient developed multiple metachronous disease. Therefore, we believe these patients, like those with SDHB & SDHD mutations, should be part of a surveillance programme...
May 12, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28498000/metastatic-brain-carotid-body-paraganglioma-with-endocrine-activity-a-case-report-and-literature-review
#7
Xiang Wang, Xianglan Zhu, Jinxiu Chen, Yanhui Liu, Qing Mao
A woman with hypertension and hyperglycemia was diagnosed a metastatic brain carotid body paraganglioma. Her blood pressure, glucose, and norepinephrine were normal after craniotomy. Although most carotid body tumors are benign, a few show distant metastasis. This is the first reported case of intracerebral metastases from a carotid body tumor.
May 12, 2017: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/28497219/robot-assisted-adrenalectomy-indications-and-drawbacks
#8
C Nomine-Criqui, A Germain, A Ayav, L Bresler, L Brunaud
Adrenal tumors can vary from a benign adrenocortical adenoma with no hormonal secretion to a secretory adrenocortical malignancy (adrenocortical carcinoma) or a hormone-secreting tumor of the adrenal medulla (pheochromocytoma). Currently, laparoscopic adrenalectomy is regarded as the preferred surgical approach for the management of most adrenal surgical disorders, although there are no prospective randomized trials comparing this technique with open adrenalectomy. However, widespread adoption of robotic technology has positioned robotic adrenalectomy as an option in some medical centers...
May 12, 2017: Updates in Surgery
https://www.readbyqxmd.com/read/28491185/extra-adrenal-pheochromocytoma-at-the-organ-of-zuckerkandl-a-case-report-and-literature-review
#9
Tarana Gill, Kalie Adler, Alicia Schrader, Keyur Desai, Joshua Wermers, Nebiyu Beteselassie
Pheochromocytomas and paragangliomas are tumors that occur in characteristic locations and are commonly detected on imaging studies. A correct diagnosis is important because of differences in associated neoplasms, risk for malignancy, and need for genetic testing. In addition, associated complications, including death, can be avoided if appropriately recognized and treated. Here, we report a rare case of an extra-adrenal paraganglioma of the organ of Zuckerkandl.
June 2017: Radiology case reports
https://www.readbyqxmd.com/read/28490599/the-phenotype-of-sdhb-germline-mutation-carriers-a-nationwide-study
#10
Nicolasine D Niemeijer, Johannes A Rijken, Karin Eijkelenkamp, A N A van der Horst-Schrivers, Michiel N Kerstens, Carli M Tops, Anouk van Berkel, Henri J Timmers, Henricus P M Kunst, C Rene Leemans, Peter H Bisschop, Koen Ma Dreijerink, Marieke van Dooren, Jean-Pierre Bayley, Alberto M Pereira, Jeroen Jansen, Frederik J Hes, Erik Hensen, E P Corssmit
Objective Succinate dehydrogenase B subunit (SDHB) gene germline mutations predispose to pheochromocytomas, sympathetic paragangliomas, head and neck paragangliomas, and non-paraganglionic tumors (e.g. renal cell carcinoma, gastrointestinal stromal tumor and pituitary neoplasia). The aim of this study was to determine phenotypical characteristics of a large Dutch cohort of SDHB germline mutation carriers and assess differences in clinical phenotypes related to specific SDHB mutations. Design Retrospective descriptive study...
May 10, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28481789/comparison-of-the-68ga-dotatata-pet-ct-fdg-pet-ct-and-mibg-spect-ct-in-the-evaluation-of-suspected-primary-pheochromocytomas-and-paragangliomas
#11
Hongli Jing, Fang Li, Ling Wang, Zhenghua Wang, Wei Li, Li Huo, Jingjing Zhang
Anatomical imaging modalities including CT and MRI are the mainstay of evaluation of primary pheochromocytoma or paraganglioma. However, nuclear medicine imaging is frequently necessary to determine the nature of the lesions. The purpose of this investigation is to assess which commonly used nuclear medicine modality might have a better diagnostic value in this clinical setting. METHODS: Eight patients who had been suspected of having either primary pheochromocytoma or primary paraganglioma and 1 patient with known pheochromocytoma were included in the analysis...
May 6, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28480801/simultaneous-carotid-body-and-mediastinum-paragangliomas
#12
Tianyue Pan, Kanhua Yin, Yi Lin, Changfa Guo, Bin Chen, Weiguo Fu
No abstract text is available yet for this article.
May 1, 2017: Vascular Medicine
https://www.readbyqxmd.com/read/28477311/update-on-adrenal-tumours-in-2017-world-health-organization-who-of-endocrine-tumours
#13
REVIEW
Alfred King-Yin Lam
The fourth edition of the World Health Organization (WHO) classification of endocrine tumours contains substantial new findings for the adrenal tumours. The tumours are presented in two chapters labelled as "Tumours of the adrenal cortex" and "Tumours of the adrenal medulla and extra-adrenal paraganglia." Tumours of the adrenal cortex are classified as cortical carcinoma, cortical adenoma, sex cord stromal tumours, adenomatoid tumour, mesenchymal and stromal tumours (myelolipoma and schwannoma), haematological tumours, and secondary tumours...
May 6, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28476870/plasma-methoxytyramine-clinical-utility-with-metanephrines-for-diagnosis-of-pheochromocytoma-and-paraganglioma
#14
Dipti Rao, Mirko Peitzsch, Aleksander Prejbisz, Katharzyna Hanus, Martin Fassnacht, Felix Beuschlein, Christina Brugger, Stephanie Fliedner, Katharina Langton, Christina Pamporaki, Volker Gudziol, Anthony Stell, Andrzej Januszewicz, Henri J Timmers, Jacques Lenders, Graeme Eisenhofer
CONTEXT: Measurements of plasma methoxytyramine, the O-methylated dopamine metabolite, are useful for detecting rare dopamine-producing pheochromocytomas and paragangliomas (PPGLs) and head and neck paragangliomas (HNPGLs), but utility for screening beyond that achieved using standard measurements of normetanephrine and metanephrine is unclear. OBJECTIVE: Evaluation of the additional utility of methoxytyramine compared to plasma normetanephrine and metanephrine for diagnosis of PPGLs and HNPGLs...
May 5, 2017: European Journal of Endocrinology
https://www.readbyqxmd.com/read/28476232/genetics-of-pheochromocytomas-and-paragangliomas-an-overview-on-the-recently-implicated-genes-mertk-met-fibroblast-growth-factor-receptor-1-and-h3f3a
#15
REVIEW
Rodrigo Almeida Toledo
Genomic studies conducted by different centers have uncovered various new genes mutated in pheochromocytomas and paragangliomas (PPGLs) at germline, mosaic, and/or somatic levels, greatly expanding our knowledge of the genetic events occurring in these tumors. The current review focuses on very new findings and discusses the previously not recognized role of MERTK, MET, fibroblast growth factor receptor 1, and H3F3A genes in syndromic and nonsyndromic PPGLs. These 4 new genes were selected because although their association with PPGLs is very recent, mounting evidence was generated that rapidly consolidated the prominence of these genes in the molecular pathogenesis of PPGLs...
June 2017: Endocrinology and Metabolism Clinics of North America
https://www.readbyqxmd.com/read/28471419/mitochondrial-deficiencies-in-the-predisposition-to-paraganglioma
#16
REVIEW
Charlotte Lussey-Lepoutre, Alexandre Buffet, Anne-Paule Gimenez-Roqueplo, Judith Favier
Paragangliomas and pheochromocytomas are rare neuroendocrine tumours with a very strong genetic component. It is estimated that around 40% of all cases are caused by a germline mutation in one of the 13 predisposing genes identified so far. Half of these inherited cases are intriguingly caused by mutations in genes encoding tricarboxylic acid enzymes, namely SDHA, SDHB, SDHC, SDHD, and SDHAF2 genes, encoding succinate dehydrogenase and its assembly protein, FH encoding fumarate hydratase, and MDH2 encoding malate dehydrogenase...
May 4, 2017: Metabolites
https://www.readbyqxmd.com/read/28469514/primary-melanotic-paraganglioma-of-thyroid-gland-report-of-a-rare-case-with-clinicopathologic-and-immunohistochemical-analysis-and-a-literature-review
#17
Yan-Jun Dong, Zhi-Wen Zhang, Zhen Wang, Xin-Ying Wang, Zhi-Zhen Tian, Xiang-Sheng Zhang
BACKGROUND: Pigmented paraganglioma is a special type of paraganglioma, and it is rare in the thyroid. CASE PRESENTATION: We report a case of a 41-year-old woman who had complained of a mass in the thyroid gland. Histology revealed tumor cells arranged in a nest-like or organoid pattern, separated by delicate fibrovascular septa. Two distinct components were observed. In the first, which constituted the majority of the tumor cells, no pigments were observed. In the second, a few cells with pigment showed intercellular substance, but the structure was unclear...
2017: Clinical Medicine Insights. Pathology
https://www.readbyqxmd.com/read/28469506/genotype-phenotype-correlation-in-patients-with-germline-mutations-of-vhl-ret-sdhb-and-sdhd-genes-thai-experience
#18
Chutintorn Sriphrapradang, Kitjapong Choopun, Atchara Tunteeratum, Thanyachai Sura
Mutations in the VHL, RET, SDHB, and SDHD genes are responsible for von Hippel-Lindau (VHL) disease, multiple endocrine neoplasia type 2 (MEN2), and familial paraganglioma, respectively. However, genotype-phenotype correlation data are lacking in Southeast Asia. A retrospective medical chart review was performed on patients referred to the genetics service. We found 35 patients diagnosed with clinical syndromes (16 VHL, 9 MEN2, 9 paragangliomas, and 1 neurofibromatosis type 1). In patients with VHL, 5 known VHL mutations were identified: p...
2017: Clinical Medicine Insights. Endocrinology and Diabetes
https://www.readbyqxmd.com/read/28464318/examination-of-phox2b-in-adult-neuroendocrine-neoplasms-reveals-relatively-frequent-expression-in-pheochromocytomas-and-paragangliomas
#19
John P Lee, Yin P Hung, Thomas M O'Dorisio, James R Howe, Jason L Hornick, Andrew M Bellizzi
AIMS: Paired-like homeobox 2b (PHOX2B) is a transcription factor with expression outside of the central nervous system restricted to neurons and chromaffin cells of the autonomic nervous system. Germline mutations cause congenital central hypoventilation syndrome and predispose to neuroblastoma and Hirschsprung disease. Among pediatric small round cell tumors, PHOX2B is neuroblastoma-specific. Two studies of adult autonomic nervous system tumors (n=62) produced conflicting results (all tumors stained in one; expression was restricted to 40% of paragangliomas in the other)...
May 2, 2017: Histopathology
https://www.readbyqxmd.com/read/28462638/complete-laparoscopic-excision-of-a-giant-retroperitoneal-paraganglioma
#20
Zar Jawad, A B Fajardo-Puerta, D Lefroy, J Todd, P B Lim, L R Jiao
Paragangliomas (or 'extra-adrenal phaeochromocytomas') are rare tumours arising from neural crest cells. They occur most commonly in the abdomen along the paraspinal sympathetic ganglion. The malignancy rate can be up to 35% and surgical resection is the recommended treatment. While laparoscopic excision of phaeochromocytomas is now well established, the overall number of cases of paragangliomas reported is much smaller owing to their rarity (even more so for giant paragangliomas of ≥8cm) and controversy remains over the completeness of excision...
May 2017: Annals of the Royal College of Surgeons of England
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