Abstract library

125 results for "succinate dehydrogenase B mutation".
#838 Succinate Dehydrogenase Subunit B (SDHB) Immunohistochemistry Should Not Replace Clinical Genetic Testing for SDHx Mutations in Patients with Pheochromocytoma and Paraganglioma
Introduction: Mutations in any of the subunits of the succinate dehydrogenase (SDH) complex predispose to PCC/PGL. Knowing the germline mutation is important for surveillance for recurrence, metastatic disease or more primary tumors and for screening affected family members. Expression of SDHB protein by immunohistochemistry (IHC) has been proposed as a surrogate marker for SDHx mutation status, with absent or decreased expression of SDHB suggesting the presence of a germline SDHB mutation or disruption of the SDH complex by mutation in another subunit.
Conference: 11th Annual ENETS Conference (2014)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
Presenting Author: Lauren Fishbein
#22 A Case Illustrative of Phenotypic Heterogeneity and Challenges in the Management of Paraganglioma
Introduction: Paragangliomas (PGLs) are extra-adrenal, usually benign, highly vascularized tumors that originate from neural-crest-derived chromaffin cells. These tumors are subdivided as either sympathetic or parasympathetic, depending on their location and catecholamine production. Sympathetic PGLs are situated along the abdominal sympathetic trunk and usually produce catecholamines, whereas parasympathetic PGLs are located in the head and neck, and these usually do not produce catecholamines. PGLs may present as sporadic or inherited tumor syndrome, including MEN 2, with RET germline mutations, von Hippel-Lindau (VHL) disease due to germline mutations in VHL gene, and pheochromocytoma-PGL syndrome. The latter is frequently a hereditary condition and is caused by germline mutations in the SDHB, SDHC, or SDHC genes. Patients with familial PGLs may present at a younger age, often as multifocal tumors, with an increased risk of recurrence and a higher frequency of malignancy in those with SDHB mutations. SDH mutations induce angiogenesis and tumorogenesis through the inhibition of hypoxia-inducible factors (HIF)-propyl hyroxylase. A younger age at onset, malignancy, and a positive family history are clinical parameters of high specificity, but low sensitivity for diagnosis. Genetic analysis for mutations in SDH genes for the patient and family members, and surveillance for the affected patient and family members, are necessary where there are no clear clinical or family indicators for the syndrome. We present a case of a large abdominal malignant PGL in a 20-year-old pt. that went on without clinical detection for at least three years.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Dr Mohammed Ahmed
#273 The Succinate Dehydrogenase Genetic Testing in Patients with Extra-adrenal Paragangliomas: The Portuguese Cancer Center (Lisboa) Experience
Introduction: Extra-adrenal paragangliomas (PGLs) occur as sporadic or familial entities, the latter mostly in association with germline mutations of the SDHB, SDHC or SDHD genes.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Rita Domingues
#880 Novel Succinate Dehydrogenase Subunit B Intronic Mutation in an Australian Kindred with Variable Clinical and Imaging Phenotype Necessitating Different Treatment Modalities Including 131-I MIBG and 177-Lutetium DOTATATE
Introduction: SDH B mutation has variable functional imaging phenotype challenging in terms of diagnosis, treatment modalities and follow-up.
Conference: 11th Annual ENETS Conference (2014)
Category: Imaging (radiology, nuclear medicine, endoscopy)
Presenting Author: Dr Kevin Lee
Authors: Lee K, Conway L, Burge M, Wyld D, ...
Keywords: SDHB, Paraganglioma
#636 Illness Perceptions, Risk Perception and Worry in Patients with Inherited Paragangliomas
Introduction: Carriers of germline mutations in subunits B and D of the succinate dehydrogenase (SDH) gene are at risk for developing paragangliomas (PGLs). The way a person perceives this risk and worries about it may be influenced by his or her perceptions about PGLs.
Conference: 10th Annual ENETS Conference (2013)
Category: Pathology, grading, staging
Presenting Author: MD Leonie Van Hulsteijn
#362 Succinate Dehydrogenase (SDH) Complex Expression in Pancreatic Endocrine Tumours (PETs)
Introduction: Absence of SDH subunit D (SDHD) mutations were reported by Perren et al (Oncogene 2002) but loss of heterozigosity (LOH) was described in 29% of the PETs. Since SDHD gene may depict a form of genomic imprinting in neuroendocrine (NE) tissue, the reported LOH may drive activation of the hypoxia pathway. Taking advantage from the immunohistochemical (IHC) method for genetic triage we may deduce the mutational status of SDH subunits (A, B, C and D) based on IHC SDHB expression. These subunits are striking candidates as they are mutated in other NE neoplasias.
Conference:
Category: Basic
Presenting Author: Mr João Vinagre
Authors: Vinagre J, Preto J, Soares P, Lopes J M, ...
Keywords: PETs SDH LOH
#645 Loss of Succinate Dehydrogenase (SDHB) in Midgut Carcinoids as Prognostic Factor: A New Marker of Personalized Cancer Medicine in Neuroendocrine Tumors?
Introduction: Gene mutations of the succinate dehydrogenase (SDH) complex are involved in the pathogenesis of cancer cells and play a pivotal role in angiogenesis and cell proliferation. The immunoistochemical (IHC) loss of SDHB is a marker of malignancy in pheocromocytomas and paragangliomas.
Conference: 10th Annual ENETS Conference (2013)
Category: Basic Science - mTOR and other pathways, signalling, receptors
Presenting Author: Md, PhD Massimo Milione
Keywords: midgut, SDHB
#480 Immunohistochemical (IHC) Overexpression of Succinate Dehydrogenase (SDHB) as Prognostic Factor in Sporadic Pheochromocytomas/Paragangliomas (P/P)
Introduction: Recently, gene mutations (SDH complex) involved in the pathogenesis of familial P/P have been discovered. These mutations are often associated with SDHB activity loss and activation of hypoxia signals.
Conference: 9th Annual ENETS Conference (2012)
Category: Basic
Presenting Author: MD Sara Pusceddu
#581 Loss of Succinate Dehydrogenase (SDHB) Expression in Midgut Carcinoids as Prognostic Factor: a New Marker of Personalized Cancer Medicine in Neuroendocrine Tumors?
Introduction: Gene mutations of SDH complex have been involved in the pathogenesis of cancer cells. These mutations are often associated with loss of activity of SDH subunity B and overexpression of HIF-1a, which play a central role in angiogenesis.
Conference:
Category: Basic
Presenting Author: Dr. Massimo Milione
#942 Ileal Neuroendocrine Well-Differentiated Tumors: Prognostic factors with Focus on Loss of Succinate Dehydrogenase (SDHB) Expression
Introduction: Ileal Neuroendocrine Well-Differentiated Tumors (INWDT) are the most common neuroendocrine neoplasms in the gastrointestinal tract. Gene mutations of SDH complex drive pathogenesis of cancer cells through their role in angiogenesis and cell proliferation.
Conference: 11th Annual ENETS Conference (2014)
Category: Pathology, grading, staging
Presenting Author: MD, PhD Massimo Milione
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