Introduction: SDHx mutations are associated with a lifelong risk of multifocal paragangliomas (PGL), so patients need regular follow-up examinations.
Aim(s): The aim of the study was to estimate the growth rate of PGL and analyze of its depending on the location base on computed tomography (CT) images.
Materials and methods: 27 patients with SDHx mutations (21 SDHD,6 SDHB,19 index case) who had at least two CT examinations were included to the study. We analyzed 58 PGL (23 abdominal, 1 pheochromocytoma, 9 thoracic, 25 head and neck). A mean percentage volume (in ml) increase within a month and the volume doubling time were estimated. The patients treated by radio-, chemio-, radionuclear therapy were excluded from the analysis. The PGL were divided depending on their localization into: head,neck (HN), thoracic (TH), abdomen,pelvis (AP).
Conference: 13th Annual ENETS conference 2016 (2016)
Category: Epidemiology/Natural history/Prognosis - Prognosis
Presenting Author: Ilona Michałowska
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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 (2014)
Category: Non digestive NETs (bronchial, MTC, pheochromocytoma)
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Introduction: The activation patterns of mTOR pathway in sporadic and hereditary pheochromocytomas (PCC) and paragangliomas (PGL) are poorly recognized.
Conference: 12th Annual ENETS Conference 2015 (2015)
Category: Basic Science - mTOR and other pathways, signalling, receptors
Presenting Author: MD, PhD Marco Volante
Introduction: P/P are rare tumors sporadically associated with familial disorders. In advanced/unresectable disease, no standard treatment has so far been well established. Recently a mutation of some genes (SDHB, SDHC, SDHD) involved in the pathogenesis of familial P/P was discovered. These mutations are often associated with an over-expression of HIF-1, which plays a central role in angiogenesis and cell proliferation. This pathway is known to be inhibited by some targeted therapies, such as sunitinib or sorafenib.
Conference: 7th Annual ENETS Conference (2010)
Presenting Author: Emilio Bajetta
Introduction: Paragangliomas are rare tumors that arise from the sympathetic and parasympathetic ganglia that can possess an inherited trait.
Conference: 14th Annual ENETS conference 2017 (2017)
Category: Clinical cases/reports
Presenting Author: MD Ioana Maria Lambrescu
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)
Presenting Author: Dr Mohammed Ahmed