Abstract library

392 results for "paraganglioma syndrome".
#274 An Unexpected Diagnosis
Introduction: Paragangliomas (PGL) are defined as rare tumors arising from extra-adrenal sympathetic and parasympathetic paraganglia and malignant paragangliomas are defined by the presence of metastases.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Dr.ssa Chiara Martini
#40 Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients
Introduction: Neuroendocrine tumors (NETs) are rare neoplasms, heterogeneous, and with variable biological behavior. NETs can be sporadic or they can arise in complex endocrine hereditary syndromes such as Multiple Endocrine Neoplasias (MEN), Familial Paragangliomatosis (FPGL), Neurofibromatosis type 1 (NF1), von Hippel-Lindau Disease (VHL), Tuberous Sclerosis (TSC) and Carney Complex (CC). By performing genetic screening, patients with hereditary NETs can be identified before the development of tumors.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Antongiulio Faggiano
#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
#1729 Outstanding Response to Sunitinib in a Patient with Unresectable Retroperitoneal Paraganglioma
Introduction: Pheochromocitomas and Paragangliomas (PCs/PGLs) are rare neuroendocrine tumors arising from the adrenal medulla and extra-adrenal ganglia. Around 30-40% of these neoplasms are genetically determined. PCs/PGLs arising from the sympathetic chain can synthesize bioactive amines leading to typical syndromes, in contrast to parasympathetic PGLs that are mainly non-secretory.
Conference: 14th Annual ENETS conference (2017)
Category: Clinical cases/reports
Presenting Author: MD Sara Pusceddu
#944 Pheochromocytoma and Paraganglioma in Pediatric Age
Introduction: Pheochromocytoma (PHE) and paraganglioma (PGL) are rare tumors of the adrenal medulla and extra-adrenal sympathetic chromaffin tissue. Nearly 30% of them are familiar or associated with genetic syndromes (VHL, MEN2, NF1, SDH mutation, Pacak-Zhuang). Only 20% PHE occur before 20 years of age. Incidence of pediatric PHE is 0.3:1 million.
Conference: 11th Annual ENETS Conference (2014)
Category: Clinical cases/reports
Presenting Author: MD, PhD Viera - Bajciova
Authors: Bajciova V, Kren L, Vicha A, ...
#1305 PRRT for Malignant Pheochromocytomas and Paragangliomas: The Singapore General Hospital Experience
Introduction: In recent years, the use of 177Lu-DOTATATE radioisotope therapy has been expanded to patients with metastatic pheochromocytomas and paragangliomas (PCC/PGL). Although this is not the standard of care, treatment options are limited for those with MIBG negative disease. Our centre has treated over 40 patients with NETS with PRRT since 2012.
Conference: 13th Annual ENETS conference (2016)
Category: PRRT-Ablative therapies-Endoscopic treatment
Presenting Author: Dr Lih Ming Loh
#124 Management and outcomes of malignant paragangliomas and phaeochromocytomas
Introduction: Chromaffin-cell tumors include phaeochromocytomas and paragangliomas, represent a rare group of neuroendocrine tumors and are located in adrenal medulla or extra-adrenal sites, respectively. Ten percent of phaeochromocytomas and 15-35% of paragangliomas are malignant.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: DR Christos Toumpanakis
#145 Paragangliomas: a series of five cases
Introduction: Paraganglioma is a rare extraadrenal neuroendocrine tumor, composed of chromaffin cells and arising from the neural crest. The head, neck, and retroperitoneum are the most common sites for paraganglioma.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Assoc. Professor Catalina Poiana
Authors: Poiana C, Carsote M, Paun D, Hortopan D, ...
#1357 Type 1 Gastric Neuroendocrine Tumor with SAPHO Syndrome Effectively Treated by Octreotide:A Case Report
Introduction: Type 1 gastric neuroendocrine tumor (gNET) which is associated with chronic atrophic gastritis type A can be treated with SSA for the recurrence. SAPHO syndrome characterized by synovitis, acne, pustulosis, hyperostosis and osteitis is a kind of rare aseptic inflammation, which is thought to be related with abnormal autoimmune. Presently, there is no satisfied treatment for this illness.
Conference: 13th Annual ENETS conference (2016)
Category: Clinical cases/reports
Presenting Author: Dr. Huang Ying Tan
Authors: Dou D, Wu Y T, Tan H, ...
Keywords: gnet, SAPHO syndrome, SSA
#2149 Symptomatic Hypothalamic-Pituitary Metastases Disclosing Malignant Paraganglioma
Introduction: A paraganglioma is a rare tumor composed of chromaffin cells. Malignant paraganglioma is a very rare presentation diagnosed by local recurrence after total resection of the primary mass or findings of distant metastasis. We report a case of a 34-year-old women with a Malignant paraganglioma presneting with visual loss and hypopituitarism resulting from metastasis to the pituitary area. The diagnosis of malignant paraganglioma was based on loco-regional and distant metastasis
Conference: 15th Annual ENETS conference (2018)
Category: Case reports
Presenting Author: Aicha Bengueddach