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William F Young - One of the best experts on this subject based on the ideXlab platform.
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Pheochromocytoma and Paraganglioma.
The New England journal of medicine, 2019Co-Authors: Hartmut P. H. Neumann, William F Young, Charis EngAbstract:Pheochromocytoma and Paraganglioma Pheochromocytoma and Paraganglioma are related tumors that differ mainly in location; pheochromocytomas are adrenal, and Paragangliomas can be anywhere else. The ...
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paravesicular Paraganglioma manifesting as chronic hypertension and hypertensive crisis
World Journal of Endocrine Surgery, 2014Co-Authors: Yi Cai, William F Young, Anna Kundel, Geoffrey B ThompsonAbstract:We describe a woman with a rare extra-adrenal pheochromocytoma who presented with a chronic hypertension and a hypertensive crisis initiated by an invasive cardiac catheterization procedure. We present a case report, review the relevant literature, and discuss management strategies. A 49-year-old woman with a 4-year history of hypertension experienced a hypertensive crisis following a catheterization procedure. Evaluation of the episode led to identification of a catecholaminesecreting pelvic Paraganglioma as confirmed by 24-hour urine fractioned metanephrines and catecholamines as well as magnetic resonance imaging. The patient was carefully pharmacologically prepared for surgical resection. Paragangliomas may exhibit 30% inheritability, and the patient was counseled on genetic testing for early diagnosis of tumor in family members. Catecholamine-secreting Paragangliomas are rare tumors that may present as hypertensive emergencies. Diagnosis relies on biochemical testing followed by imaging to avoid crisis induced by invasive procedures. Surgical excision is the treatment of choice, and pharmacological preparation for surgery begins at least 1 week prior to the procedure to ensure adequate adrenergic blockade. Following treatment for a Paraganglioma, genetic testing should be recommended for early identification of affected family members.
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pheochromocytoma and Paraganglioma in children a review of medical and surgical management at a tertiary care center
Pediatrics, 2006Co-Authors: Tuan H Pham, David R Farley, Geoffrey B Thompson, Christopher R Moir, Abdalla E Zarroug, Chad E Hamner, Jon A Van Heerden, Aida N Lteif, William F YoungAbstract:OBJECTIVE.The aim of this study was to review our institutional experience managing pheochromocytomas and Paragangliomas in children. METHODS.A retrospective chart review of the Mayo Clinic database from 1975 to 2005 identified 30 patients 18 years of age with histologically confirmed pheochromocytoma or Paraganglioma. RESULTS.There were 12 patients with pheochromocytomas and 18 with Paragangliomas. The most common presenting symptoms were hypertension (64%), palpitation (53%), headache (47%), and mass-related effects (30%). Nine patients (30%) had a genetic mutation or documented family history of pheochromocytoma or Paraganglioma. Fourteen patients (47%) had malignant disease, whereas 16 (53%) had benign disease. Logistic analysis showed that statistically significant risk factors for malignancy were (1) Paraganglioma, (2) apparently sporadic, as opposed to familial, pheochromocytoma or Paraganglioma, and (3) tumor size of 6 cm. Surgical resection was performed for 28 patients (93%), with perioperative mortality and major morbidity rates of 0% and 10%, respectively. Resection achieved symptomatic relief for 25 patients (83%). All patients with benign disease appeared cured after resection. For patients with malignant disease, the 5- and 10-year disease-specific survival rates were 78% and 31%, respectively, and the mean survival time was 157 32 months. CONCLUSIONS.The incidence of malignant pheochromocytoma/Paraganglioma was high in children (47%), particularly those with apparently sporadic disease, Paraganglioma, and tumor diameters of 6 cm. Patients with a known genetic mutation or familial pheochromocytoma/Paraganglioma were more likely to achieve resection with negative microscopic margins and had improved disease-specific mortality rates. Surgical resection remains the treatment of choice for pheochromocytoma and Paraganglioma.
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pheochromocytoma and Paraganglioma in children a review of medical and surgical management at a tertiary care center
Pediatrics, 2006Co-Authors: Tuan H Pham, David R Farley, Geoffrey B Thompson, Christopher R Moir, Abdalla E Zarroug, Chad E Hamner, Jon A Van Heerden, Aida N Lteif, William F YoungAbstract:OBJECTIVE. The aim of this study was to review our institutional experience managing pheochromocytomas and Paragangliomas in children. METHODS. A retrospective chart review of the Mayo Clinic database from 1975 to 2005 identified 30 patients RESULTS. There were 12 patients with pheochromocytomas and 18 with Paragangliomas. The most common presenting symptoms were hypertension (64%), palpitation (53%), headache (47%), and mass-related effects (30%). Nine patients (30%) had a genetic mutation or documented family history of pheochromocytoma or Paraganglioma. Fourteen patients (47%) had malignant disease, whereas 16 (53%) had benign disease. Logistic analysis showed that statistically significant risk factors for malignancy were (1) Paraganglioma, (2) apparently sporadic, as opposed to familial, pheochromocytoma or Paraganglioma, and (3) tumor size of >6 cm. Surgical resection was performed for 28 patients (93%), with perioperative mortality and major morbidity rates of 0% and 10%, respectively. Resection achieved symptomatic relief for 25 patients (83%). All patients with benign disease appeared cured after resection. For patients with malignant disease, the 5- and 10-year disease-specific survival rates were 78% and 31%, respectively, and the mean survival time was 157 ± 32 months. CONCLUSIONS. The incidence of malignant pheochromocytoma/Paraganglioma was high in children (47%), particularly those with apparently sporadic disease, Paraganglioma, and tumor diameters of >6 cm. Patients with a known genetic mutation or familial pheochromocytoma/Paraganglioma were more likely to achieve resection with negative microscopic margins and had improved disease-specific mortality rates. Surgical resection remains the treatment of choice for pheochromocytoma and Paraganglioma.
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perianesthetic risks and outcomes of pheochromocytoma and Paraganglioma resection
Anesthesia & Analgesia, 2000Co-Authors: Michelle A O Kinney, William F Young, Mary E Warner, Jon A Vanheerden, Terese T Horlocker, Darrell R Schroeder, Pamela M Maxson, Mark A WarnerAbstract:Pheochromocytomas and Paragangliomas are often surgically curable. However, resection of these tumors can be life threatening. We undertook this study to determine the frequency of, and risk factors for, perioperative complications in patients undergoing resection of pheochromocytoma or paragangliom
Nelly Burnichon - One of the best experts on this subject based on the ideXlab platform.
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sdha is a tumor suppressor gene causing Paraganglioma
Human Molecular Genetics, 2010Co-Authors: Frederique Tissier, Julie Riviere, Nelly Burnichon, Jeanjacques Briere, Rossella Libe, Laure Vescovo, Elodie Jouanno, Xavier JeunemaitreAbstract:Mitochondrial succinate-coenzyme Q reductase (complex II) consists of four subunits, SDHA, SDHB, SDHC and SDHD. Heterozygous germline mutations in SDHB, SDHC, SDHD and SDHAF2 [encoding for succinate dehydrogenase (SDH) complex assembly factor 2] cause hereditary Paragangliomas and pheochromocytomas. Surprisingly, no genetic link between SDHA and Paraganglioma/pheochromocytoma syndrome has ever been established. We identified a heterozygous germline SDHA mutation, p.Arg589Trp, in a woman suffering from catecholamine-secreting abdominal Paraganglioma. The functionality of the SDHA mutant was assessed by studying SDHA, SDHB, HIF-1α and CD34 protein expression using immunohistochemistry and by examining the effect of the mutation in a yeast model. Microarray analyses were performed to study gene expression involved in energy metabolism and hypoxic pathways. We also investigated 202 Paragangliomas or pheochromocytomas for loss of heterozygosity (LOH) at the SDHA, SDHB, SDHC and SDHD loci by BAC array comparative genomic hybridization. In vivo and in vitro functional studies demonstrated that the SDHA mutation causes a loss of SDH enzymatic activity in tumor tissue and in the yeast model. Immunohistochemistry and transcriptome analyses established that the SDHA mutation causes pseudo-hypoxia, which leads to a subsequent increase in angiogenesis, as other SDHx gene mutations. LOH was detected at the SDHA locus in the patient's tumor but was present in only 4.5% of a large series of Paragangliomas and pheochromocytomas. The SDHA gene should be added to the list of genes encoding tricarboxylic acid cycle proteins that act as tumor suppressor genes and can now be considered as a new Paraganglioma/pheochromocytoma susceptibility gene.
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isocitrate dehydrogenase mutations are rare in pheochromocytomas and Paragangliomas
The Journal of Clinical Endocrinology and Metabolism, 2010Co-Authors: Nelly Burnichon, Jérôme Bertherat, Anne Paule Gimenezroqueplo, Esther Korpershoek, Ronald R. Krijger, Isabelle Roncelin, Pierrefrancois Plouin, Winand N.m. DinjensAbstract:Context: Paragangliomas and pheochromocytomas are neuroendocrine tumors that occur sporadically and in the context of inherited tumor syndromes including hereditary Paraganglioma-pheochromocytoma syndrome and von Hippel-Lindau disease (VHL). The Paraganglioma-pheochromocytoma syndrome is caused by germline-inactivating mutations in the mitochondrial succinate dehydrogenase (SDH) genes SDHB, SDHC, SDHD, or SDHAF2, and VHL is the result of inactivating VHL gene mutations. In SDH- and VHL-related Paraganglioma and pheochromocytoma, hypoxia-inducible factor (HIF) stabilization has been described as the causal oncogenic event. Recently, HIF activation has also been found in glioblastoma multiforme, as the result of somatic mutational inactivation of the isocitrate dehydrogenase (IDH) type 1 or type 2 enzymes. These findings suggest that inactivating IDH1 and IDH2 mutations might also play a role in Paraganglioma and pheochromocytoma tumorigenesis, especially in non-SDH- or non-VHL-related tumors. Design: We in...
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the succinate dehydrogenase genetic testing in a large prospective series of patients with Paragangliomas
The Journal of Clinical Endocrinology and Metabolism, 2009Co-Authors: Laurence Amar, Nelly Burnichon, V Rohmer, Philippe Herman, Sophie Leboulleux, Vincent Darrouzet, Patricia Niccoli, Dominique GaillardAbstract:Context: Germline mutations in SDHx genes cause hereditary Paraganglioma. Objective: The aim of the study was to assess the indications for succinate dehydrogenase (SDH) genetic testing in a prospective study. Design: A total of 445 patients with head and neck and/or thoracic-abdominal or pelvic Paragangliomas were recruited over 5 yr in 20 referral centers. In addition to classical direct sequencing of the SDHB, SDHC, and SDHD genes, two methods for detecting large genomic deletions or duplications were used, quantitative multiplex PCR of short fluorescent fragments (QMPSF) and multiplex ligation-dependent probe amplification (MLPA). Results: A large variety of SDH germline mutations were found by direct sequencing in 220 patients and by QMPSF and MLPA in 22 patients (9.1%): 130 in SDHD, 96 in SDHB, and 16 in SDHC. Mutation carriers were younger and more frequently had multiple or malignant Paraganglioma than patients without mutations. A head and neck Paraganglioma was present in 97.7% of the SDHD and 8...
Alice B Smith - One of the best experts on this subject based on the ideXlab platform.
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Paraganglioma carotid body tumor
Head and Neck Pathology, 2009Co-Authors: Jacqueline A Wieneke, Alice B SmithAbstract:Extra-adrenal Paragangliomas are neoplasms of the paraganglia located within the paravertebral sympathetic and parasympathetic chains. Thus Paragangliomas may arise anywhere along these tracts and common sites of occurrence include abdomen, retroperitoneum, chest and mediastinum and various head and neck locations such as jugulotympanic membrane, orbit, nasopharynx, larynx, vagal body and carotid body. Recent literature suggests a molecular basis for the development of some Paragangliomas, i.e. germline mutations. Six genes have been identified and are thought to contribute to the development of pheochromocytoma/Paraganglioma. These include RET, VHL, NF1 and SDH subunits SDHB, SDHC, and SDHD. SDHD and SDHB mutations account for a significant percentage of head and neck Paragangliomas. It is well know that Paragangliomas may be hereditary and may be part of genetic syndromes such as Von Hippel-Lindau syndrome, neurofibromatosis type I (von Recklinghausen disease), MEN 2A and MEN 2B. When features of these more commonly known syndromes are not present, many familial cases, often associated with the above mentioned germline mutations, go unrecognized. In the head and neck region the normal paraganglia are associated with the parasympathetic nervous system and Paragangliomas arising from these parasympathetic sites account for up to 70% of extra-adrenal Paragangliomas. The most common site is the carotid body. Carotid body Paragangliomas arise at the bifurcation of the internal and external carotid arteries and have classic radiographic
Tuan H Pham - One of the best experts on this subject based on the ideXlab platform.
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pheochromocytoma and Paraganglioma in children a review of medical and surgical management at a tertiary care center
Pediatrics, 2006Co-Authors: Tuan H Pham, David R Farley, Geoffrey B Thompson, Christopher R Moir, Abdalla E Zarroug, Chad E Hamner, Jon A Van Heerden, Aida N Lteif, William F YoungAbstract:OBJECTIVE.The aim of this study was to review our institutional experience managing pheochromocytomas and Paragangliomas in children. METHODS.A retrospective chart review of the Mayo Clinic database from 1975 to 2005 identified 30 patients 18 years of age with histologically confirmed pheochromocytoma or Paraganglioma. RESULTS.There were 12 patients with pheochromocytomas and 18 with Paragangliomas. The most common presenting symptoms were hypertension (64%), palpitation (53%), headache (47%), and mass-related effects (30%). Nine patients (30%) had a genetic mutation or documented family history of pheochromocytoma or Paraganglioma. Fourteen patients (47%) had malignant disease, whereas 16 (53%) had benign disease. Logistic analysis showed that statistically significant risk factors for malignancy were (1) Paraganglioma, (2) apparently sporadic, as opposed to familial, pheochromocytoma or Paraganglioma, and (3) tumor size of 6 cm. Surgical resection was performed for 28 patients (93%), with perioperative mortality and major morbidity rates of 0% and 10%, respectively. Resection achieved symptomatic relief for 25 patients (83%). All patients with benign disease appeared cured after resection. For patients with malignant disease, the 5- and 10-year disease-specific survival rates were 78% and 31%, respectively, and the mean survival time was 157 32 months. CONCLUSIONS.The incidence of malignant pheochromocytoma/Paraganglioma was high in children (47%), particularly those with apparently sporadic disease, Paraganglioma, and tumor diameters of 6 cm. Patients with a known genetic mutation or familial pheochromocytoma/Paraganglioma were more likely to achieve resection with negative microscopic margins and had improved disease-specific mortality rates. Surgical resection remains the treatment of choice for pheochromocytoma and Paraganglioma.
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pheochromocytoma and Paraganglioma in children a review of medical and surgical management at a tertiary care center
Pediatrics, 2006Co-Authors: Tuan H Pham, David R Farley, Geoffrey B Thompson, Christopher R Moir, Abdalla E Zarroug, Chad E Hamner, Jon A Van Heerden, Aida N Lteif, William F YoungAbstract:OBJECTIVE. The aim of this study was to review our institutional experience managing pheochromocytomas and Paragangliomas in children. METHODS. A retrospective chart review of the Mayo Clinic database from 1975 to 2005 identified 30 patients RESULTS. There were 12 patients with pheochromocytomas and 18 with Paragangliomas. The most common presenting symptoms were hypertension (64%), palpitation (53%), headache (47%), and mass-related effects (30%). Nine patients (30%) had a genetic mutation or documented family history of pheochromocytoma or Paraganglioma. Fourteen patients (47%) had malignant disease, whereas 16 (53%) had benign disease. Logistic analysis showed that statistically significant risk factors for malignancy were (1) Paraganglioma, (2) apparently sporadic, as opposed to familial, pheochromocytoma or Paraganglioma, and (3) tumor size of >6 cm. Surgical resection was performed for 28 patients (93%), with perioperative mortality and major morbidity rates of 0% and 10%, respectively. Resection achieved symptomatic relief for 25 patients (83%). All patients with benign disease appeared cured after resection. For patients with malignant disease, the 5- and 10-year disease-specific survival rates were 78% and 31%, respectively, and the mean survival time was 157 ± 32 months. CONCLUSIONS. The incidence of malignant pheochromocytoma/Paraganglioma was high in children (47%), particularly those with apparently sporadic disease, Paraganglioma, and tumor diameters of >6 cm. Patients with a known genetic mutation or familial pheochromocytoma/Paraganglioma were more likely to achieve resection with negative microscopic margins and had improved disease-specific mortality rates. Surgical resection remains the treatment of choice for pheochromocytoma and Paraganglioma.
Maria João Bugalho - One of the best experts on this subject based on the ideXlab platform.
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Paragangliomas/Pheochromocytomas: Clinically Oriented Genetic Testing
International journal of endocrinology, 2014Co-Authors: Rute S.t. Martins, Maria João BugalhoAbstract:Paragangliomas are rare neuroendocrine tumors that arise in the sympathetic or parasympathetic nervous system. Sympathetic Paragangliomas are mainly found in the adrenal medulla (designated pheochromocytomas) but may also have a thoracic, abdominal, or pelvic localization. Parasympathetic Paragangliomas are generally located at the head or neck. Knowledge concerning the familial forms of Paragangliomas has greatly improved in recent years. Additionally to the genes involved in the classical syndromic forms: VHL gene (von Hippel-Lindau), RET gene (Multiple Endocrine Neoplasia type 2), and NF1 gene (Neurofibromatosis type 1), 10 novel genes have so far been implicated in the occurrence of Paragangliomas/pheochromocytomas: SDHA, SDHB, SDHC, SDHD, SDHAF2, TMEM127, MAX, EGLN1, HIF2A, and KIF1B. It is currently accepted that about 35% of the Paragangliomas cases are due to germline mutations in one of these genes. Furthermore, somatic mutations of RET, VHL, NF1, MAX, HIF2A, and H-RAS can also be detected. The identification of the mutation responsible for the Paraganglioma/pheochromocytoma phenotype in a patient may be crucial in determining the treatment and allowing specific follow-up guidelines, ultimately leading to a better prognosis. Herein, we summarize the most relevant aspects regarding the genetics and clinical aspects of the syndromic and nonsyndromic forms of pheochromocytoma/Paraganglioma aiming to provide an algorithm for genetic testing.
