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Paraganglioma

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https://www.readbyqxmd.com/read/28346648/glomus-faciale-tumors-a-report-of-3-cases-and-literature-review
#1
Sahar Nadimi, John P Leonetti, Sam J Marzo, Douglas E Anderson, Gulrez Mahmood, Derek Bumgarner
Our objectives in reporting this case series are to familiarize readers with the rare occurrence of paragangliomas originating along the facial nerve and to provide a literature review. We describe 3 such cases that occurred at our tertiary care academic medical center. Two women and 1 man presented with a tumor adjacent to the vertical segment of the facial nerve. The first patient, a 48-year-old woman, presented with what appeared to be a parotid tumor at the stylomastoid foramen; she underwent a parotidectomy, transmastoid facial nerve decompression, and a shave biopsy of the tumor...
March 2017: Ear, Nose, & Throat Journal
https://www.readbyqxmd.com/read/28344687/disseminated-pancreatic-neuroendocrine-neoplasm-nen-with-an-uncommon-localisation-in-the-central-nervous-system-a-case-report
#2
Joanna Białkowska, Agnieszka Kolasińska-Ćwikła, Dorota Mroczkowska, Mariusz Sowa, Łukasz Grabarczyk, Wojciech Maksymowicz, Andrzej Cichocki, Jarosław B Ćwikła
BACKGROUND: Neuroendocrine neoplasms (NEN) are rare neoplasms that originate from neuroendocrine cells and are characterized by the potential of hormonal activity. Approximately 70% of these tumours are located in the gastrointestinal system (GI), followed by the bronchi, endocrine glands-like C cells of the thyroid (medullary carcinoma), the parasympathetic and sympathetic system (paragangliomas, pheochromocytoma) and other very rare locations. The prevalence of cerebral metastases in neuroendocrine tumours is estimated by various authors to be approximately 1...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28338500/differential-diagnosis-in-neuroendocrine-neoplasms-of-the-larynx
#3
Jennifer L Hunt, Alfio Ferlito, Henrik Hellquist, Alessandra Rinaldo, Alena Skálová, Pieter J Slootweg, Stefan M Willems, Antonio Cardesa
The differential diagnosis of neuroendocrine neoplasms of the larynx is broad and includes lesions of epithelial, mesenchymal, and neuroectodermal origin. These lesions have overlapping clinical and pathologic aspects and must be carefully considered in the differential diagnosis of laryngeal neoplasms. The prognosis and treatment are also different among these tumor types, which necessitates making these distinctions clinically. The current literature was reviewed to provide updated information regarding the epithelial-derived tumors, including carcinoid, atypical carcinoid, small cell neuroendocrine carcinomas, large cell neuroendocrine carcinoma, and squamous cell carcinoma with neuroendocrine component...
March 23, 2017: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/28336782/functional-imaging-signature-of-patients-presenting-with-polycythemia-paraganglioma-syndromes
#4
Ingo Janssen, Clara Chi Chen, Zhenping Zhuang, Corina M Millo, Katherine Wolf, Alexander Ling, Frank I Lin, Karen T Adams, Peter Herscovitch, Richard A Feelders, Antonio T Fojo, David Taieb, Electron Kebebew, Karel Pacak
Rationale: Pheochromocytoma/paraganglioma (PPGL) syndromes associated with polycythemia have previously been described in association with mutations in the von Hippel-Lindau (VHL) gene. Recently, mutations in the prolyl hydroxylase gene (PHD) 1 and 2 and in the hypoxia-inducible factor 2 alpha (HIF2A) were also found to be associated with multiple and recurrent PPGL. Such patients also presented with PPGL and polycythemia, and later on, some presented with duodenal somatostatinoma. In additional patients presenting with PPGL and polycythemia, no further mutations have been discovered...
March 23, 2017: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
https://www.readbyqxmd.com/read/28332883/precision-medicine-an-update-on-genotype-biochemical-phenotype-relationships-in-pheochromocytoma-paraganglioma-patients
#5
Garima Gupta, Karel Pacak
Pheochromocytomas and paragangliomas are rare neuroendocrine tumors known to produce and secrete high levels of circulating catecholamines and their metabolites. The biochemical characteristics of these tumors can be used to divide them into three major phenotypes. The adrenergic phenotype comprises of tumors with predominant elevations in epinephrine and metanephrine levels whereas the noradrenergic phenotype is composed of tumors with predominant elevations in norepinephrine and normetanephrine levels. The dopaminergic phenotype is a third rare group composed of tumors mainly secreting dopamine and 3-methoxytyramine...
March 23, 2017: Endocrine Practice
https://www.readbyqxmd.com/read/28327598/global-dna-methylation-analysis-identifies-two-discrete-clusters-of-pheochromocytoma-with-distinct-genomic-and-genetic-alterations
#6
Samuel Backman, Rajani Maharjan, Alberto Falk-Delgado, Joakim Crona, Kenko Cupisti, Peter Stålberg, Per Hellman, Peyman Björklund
Pheochromocytomas and paragangliomas (PPGLs) are rare and frequently heritable neural-crest derived tumours arising from the adrenal medulla or extra-adrenal chromaffin cells respectively. The majority of PPGL tumours are benign and do not recur with distant metastases. However, a sizeable fraction of these tumours secrete vasoactive catecholamines into the circulation causing a variety of symptoms including hypertension, palpitations and diaphoresis. The genetic landscape of PPGL has been well characterized and more than a dozen genes have been described as recurrently mutated...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325651/genitourinary-paraganglioma-demographic-pathologic-and-clinical-characteristics-in-the-surveillance-epidemiology-and-end-results-database-2000-2012
#7
Stephanie Purnell, Abhinav Sidana, Mahir Maruf, Campbell Grant, Piyush K Agarwal
BACKGROUND: Extra-adrenal paragangliomas (PGLs) are infrequent, benign, and neuroendocrine tumors arising from chromaffin cells of the autonomic nervous system. Most PGLs are sporadic, but up to 32% are associated with inherited syndromes such as neurofibromatosis type 1, von Hippel-Lindau disease, and familial PGL. Although most PGLs develop above the umbilicus, they have been reported in the genitourinary (GU) tract. Owing to the paucity of literature on the rates of GU PGL, the objective of our study is to describe the demographic, pathologic, and clinical characteristics of GU PGL, and compare them to non-GU sites of PGL using the surveillance, epidemiology, and end results (SEER) database...
March 18, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28324046/characteristics-of-pediatric-vs-adult-pheochromocytomas-and-paragangliomas
#8
Christina Pamporaki, Barbora Hamplova, Mirko Peitzsch, Aleksander Prejbisz, Felix Beuschlein, Henri J L M Timmers, Martin Fassnacht, Barbara Klink, Maya Lodish, Constantine A Stratakis, Angela Huebner, Stephanie Fliedner, Mercedes Robledo, Richard O Sinnott, Andrzej Januszewicz, Karel Pacak, Graeme Eisenhofer
Context: Pheochromocytomas and paragangliomas (PPGLs) in children are often hereditary and may present with different characteristics compared to adults. Hereditary PPGLs can be separated into two groups: cluster 1 and cluster 2 tumors due to mutations impacting hypoxia and kinase receptor signaling pathways respectively. Objective: To identify differences in presentation of PPGLs between children and adults. Design: A retrospective cross-sectional clinical study...
January 31, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28321772/paragangliomas-of-the-head-and-neck-an-overview-from-diagnosis-to-genetics
#9
Michelle D Williams
Paragangliomas (PGL) develop from the parasympathetic system in the head and neck (HN) and arise primarily in four distinct areas: Carotid body, vagal, middle ear, and larynx. Globally, the diagnosis and morphologic features are the same regardless of anatomic site, however the incidence, frequency of genetic alterations/syndromes and differential diagnosis vary. It is now recognized that nearly 40% of all HN PGLs are hereditary, including a significant subset without a known family history. Now pathologists are central to the evaluation for diagnosis and further management of patients with HNPGLs...
March 20, 2017: Head and Neck Pathology
https://www.readbyqxmd.com/read/28321306/alveolar-soft-part-sarcoma-of-the-mediastinum-a-case-report
#10
Yohei Kameda, Teppei Nishii, Masahiro Tsuboi, Hiromasa Arai, Kenji Inui, Takeshi Kaneko, Noriko Kimura, Mitsuhide Naruse, Munetaka Masuda
We report a 53-year-old man with metastases of alveolar soft-part sarcoma originated from the mediastinum. He was hospitalized due to lower extremities' paralysis. Computed tomography scan findings revealed multiple nodules of bilateral lungs, swollen mediastinal lymph nodes, and osteolysis of thoracic vertebrae. We performed spinal decompression and biopsy from vertebra. And, we finally diagnosed this case as metastases of mediastinal alveolar soft-part sarcoma which was removed 10 years ago. Alveolar soft-part sarcoma is rare tumor accounted for 0...
2017: SAGE open medical case reports
https://www.readbyqxmd.com/read/28318703/duodenal-gangliocytic-paraganglioma-treatment-through-endoscopic-resection
#11
B D Palomino-Martínez, H Espino-Cortés, J Cerna-Cardona, L E Godínez-Martínez, M A Chávez-García
No abstract text is available yet for this article.
March 16, 2017: Revista de Gastroenterología de México
https://www.readbyqxmd.com/read/28300276/reassessing-the-clinical-spectrum-associated-with-hereditary-leiomyomatosis-and-renal-cell-carcinoma-syndrome-in-french-fh-mutation-carriers
#12
Marie Muller, Sophie Ferlicot, Marine Guillaud-Bataille, Gwénaël Le Teuff, Catherine Genestie, Sophie Deveaux, Abdelhamid Slama, Nicolas Poulalhon, Bernard Escudier, Laurence Albiges, Nadem Soufir, Marie-Françoise Avril, Betty Gardie, Carolina Saldana, Yves Allory, Anne-Paule Gimenez-Roqueplo, Brigitte Bressac-de Paillerets, Stéphane Richard, Patrick R Benusiglio
We addressed uncertainties regarding Hereditary Leiomyomatosis and Renal Cell Carcinoma (HLRCC) by exploring all French cases, representing the largest series to date. Fumarate Hydratase (FH) germline testing was performed with Sanger sequencing and qPCR/MLPA. Enzyme activity was measured when necessary. We carried out whenever possible a pathology review of RCC and S-(2-succino)-cysteine (2SC)/fumarate hydratase immunohistochemistry. We estimated survival using non-parametric Kaplan-Meier. There were 182 cases from 114 families...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28299533/clival-paragangliomas-a-report-of-two-cases-involving-the-midline-skull-base-and-review-of-the-literature
#13
Jacob Ruzevick, Eun Kyung Koh, Luis F Gonzalez-Cuyar, Patrick J Cimino, Kristen Moe, Lorena A Wright, Richard Failor, Manuel Ferreira
Head and neck paragangliomas are rare neuroendocrine tumors that arise from paraganglion cells of the parasympathetic nervous system. Paragangliomas arising from the midline skull base have only rarely been reported. Surgery is the mainstay of treatment and adjuvant radiation is often recommended. These tumors can rarely secrete metanephrines and normetanephrines which can complicate operative management. Here we present two cases of clival paragangliomas with unique clinical presentations and review the previous literature on skull base paragangliomas...
March 16, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28298947/glomus-vagale-tumour-can-it-be-diagnosed-only-on-sonography
#14
Shuchi Bhatt, Pooja Verma, Neha Meena, Anupama Tandon, Nadeem Tanveer, Divya Bansal
Vagal paragangliomas are rare benign tumors accounting for only 3% of head and neck paragangliomas and arise from vagal ganglions, predominately the nodose ganglion in the carotid sheath. Imaging plays an important role in their diagnosis, differentiation from more common lesions presenting in the carotid space, and management. MRI is the method of choice for investigation when paragangliomas are clinically suspected. The typical salt-and-pepper appearance in T1-weighted images is well known but not specific to paragangliomas...
March 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/28288478/benign-temporomandibular-joint-lesions-presenting-as-masses-in-the-external-auditory-canal
#15
Ryan A Williams, Robert K Jackler, C Eduardo Corrales
OBJECTIVE: Describe benign lesions arising from the temporomandibular joint (TMJ) that presented as masses in the external auditory canal (EAC). STUDY DESIGN: Retrospective case series of two academic medical centers. PATIENTS: Six patients with lesions emanating from the TMJ that presented as EAC masses. Lesions included pigmented villonodular synovitis (PVNS), nodular fasciitis, foramen of Huschke herniation with salivary fistula, fibroepithelial polyp, superficial angiomyxoma, and giant cell tumor (GCT)...
April 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/28284009/pituitary-carcinoma-in-a-patient-with-an-sdhb-mutation
#16
Nicola Tufton, Federico Roncaroli, Irene Hadjidemetriou, Mary N Dang, Judit Dénes, Leonardo Guasti, Maria Thom, Michael Powell, Stephanie E Baldeweg, Naomi Fersht, Márta Korbonits
We present the first case of pituitary carcinoma occurring in a patient with a succinate dehydrogenase subunit B (SDHB) mutation and history of paraganglioma. She was initially treated for a glomus tumour with external beam radiotherapy. Twenty-five years later, she was diagnosed with a non-functioning pituitary adenoma, having developed bitemporal hemianopia. Recurrence of the pituitary lesion (Ki-67 10% and p53 overexpressed) occurred 5 years after her transsphenoidal surgery, for which she underwent two further operations followed by radiotherapy...
March 10, 2017: Endocrine Pathology
https://www.readbyqxmd.com/read/28271435/adalimumab-therapy-in-a-patient-with-crohn-s-disease-with-a-giant-pelvic-paraganglioma-after-chemotherapy
#17
Tsutomu Mizoshita, Masashi Ando, Hiroyuki Sagawa, Yoshinori Mori, Takahito Katano, Keiji Ozeki, Satoshi Tanida, Yasuyuki Okamoto, Takaya Shimura, Eiji Kubota, Hiromi Kataoka, Takeshi Kamiya, Takashi Joh
A 23-year-old man was diagnosed with a giant pelvic paraganglioma in September 2013, and a 6-month chemotherapy course was performed. The chemotherapy resulted in stable disease of the tumor for about 1 year. However, in April 2015, the patient complained of fever and diarrhea of more than ten times a day. Endoscopy showed serpiginous (snake-like) ulcers in the cecum, ascending, descending, and sigmoid colons, with granulomas without caseation histologically. The patient was diagnosed with the active stage of Crohn's disease (CD) in June 2015...
March 7, 2017: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/28265216/right-thoracoabdominal-approach-for-retrocardiac-paraganglioma-resection
#18
Carlos A Hinojosa, Hugo Laparra-Escareno, Javier E Anaya-Ayala, Rene Lizola, Adriana Torres-Machorro, Armando Gamboa-Domínguez
Paragangliomas are rare extra-adrenal tumors of sympathetic or parasympathetic paraganglia origin; of these, mediastinal paragangliomas are 2% of all cases. We present the case of a 21-year-old woman with uncontrolled arterial hypertension who had a functioning 6.5 × 6.2-cm retrocardiac paraganglioma firmly attached to the pericardium. The patient underwent tumor resection via a right thoracoabdominal incision; this surgical approach enabled adequate exposure for complete resection without institution of cardiopulmonary bypass or need for cardiac reconstruction or autotransplantation...
February 2017: Texas Heart Institute Journal
https://www.readbyqxmd.com/read/28264974/emerging-role-of-dopamine-in-neovascularization-of-pheochromocytoma-and-paraganglioma
#19
REVIEW
Thamara E Osinga, Thera P Links, Robin P F Dullaart, Karel Pacak, Anouk N A van der Horst-Schrivers, Michiel N Kerstens, Ido P Kema
Dopamine is a catecholamine that acts both as a neurotransmitter and as a hormone, exerting its functions via dopamine (DA) receptors that are present in a broad variety of organs and cells throughout the body. In the circulation, DA is primarily stored in and transported by blood platelets. Recently, the important contribution of DA in the regulation of angiogenesis has been recognized. In vitro and in vivo studies have shown that DA inhibits angiogenesis through activation of the DA receptor type 2. Overproduction of catecholamines is the biochemical hallmark of pheochromocytoma (PCC) and paraganglioma (PGL)...
March 6, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28262005/parotid-or-carotid-misled-by-site
#20
Ruchita Tyagi, Manish Munjal, Pavneet Kaur, Harpreet Kaur, Neena Sood
We present an interesting scenario where a 64 years old male presented with a long standing painless, infra-auricular swelling, which had progressively increased in size. Based on the site, the clinical impression was of a salivary gland lesion and FNAC was performed. The smears were unusually cellular and had necrotic background. The cytological diagnosis was a cystic neoplasm of salivary gland, possibly mucoepidermoid carcinoma. Warthin's tumor was also kept in differential. However, the radiological investigations, which were made available after the FNAC report were conflicting with cytological diagnosis of a malignancy and were characteristic of a carotid body tumor, generally a benign neoplasm...
March 6, 2017: Diagnostic Cytopathology
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