SDHB Mutation in a Young Patient with a Metastatic Paraganglioma of the Urinary Bladder Abstract #1640

Introduction: Paragangliomas are rare tumors that arise from the sympathetic and parasympathetic ganglia that can possess an inherited trait.
Aim(s): We present the case of a 40 year old male with a family history of cervical tumor of unknown histology (father) and high blood pressure (brother-mid 30s).
Materials and methods: The patient’s medical history revealed a large para-aortic retroperitoneal tumor, incidentally detected at age 30, that was excised. The histopathological result was paraganglioma with no follow-up ever since. In 2016, the patient presented to our department complaining of high blood pressure for the past 3 years.
Conference: 14th Annual ENETS conference 2017 (2017)
Category: Clinical cases/reports
Presenting Author: MD Ioana Maria Lambrescu

To read results and conclusion, please login ...

Further abstracts you may be interested in

#99 Gene mutations and Hypoxia Inducible Factor (HIF-1) expression as prognostic-predictive factors in pheochromocytomas/paragangliomas (P/P)
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)
Category: Basic
Presenting Author: Emilio Bajetta
#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
#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 (2013)
Category: Pathology, grading, staging
Presenting Author: MD Leonie Van Hulsteijn
#246 SDHB Loss Predicts Malignancy in Pheochromocytomas/Sympathethic Paragangliomas, but Not Through Hypoxia Signalling
Introduction: To date there is no reliable histopathological marker of malignancy for pheochromocytomas/sympathetic paragangliomas (PCC/PGL). It is well-known that PCC/PGL in the hereditary context of an SDHB germline mutation very often metastasize. The immunohistochemical loss of SDHB expression was recently shown to be a surrogate marker for the presence of an SDH germline mutation in PCC/PGL. SDHB loss is supposed to be tumorigenic via activation of hypoxia signals.
Conference: 8th Annual ENETS Conference (2011)
Category: Basic
Presenting Author: Dr Anja M Schmitt
#2972 Characteristics and Management of Paragangliomas, 10 Years Experience
Introduction: Paraganglioma (PG) is a rare extra-adrenal neuroendocrine tumor, with common sites of presentation being abdomen, and head and neck region. The majority of PGs appear to be sporadic. However, almost half of cases are associated with an inherited syndrome. The highest malignancy rates are seen in paragangliomas (PGs) associated with SDHB mutations, which are usually abdominal and secretory.
Conference: 17th Annual ENETS Conference 2020 (2020)
Category: Epidemiology/Natural history/Prognosis - Registries, nationwide and regional surveys
Presenting Author: MD Emilia Sardo