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MON-924 Susceptibility Genetic Testing and Functional Imaging Modalities in the Management of Bladder Paragangliomas

机译:MON-924膀胱PARAGANGLIOMAS管理中的MON-924敏感性遗传学测试和功能性成像方式

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摘要

Introduction: Bladder Paragangliomas (PGLs) are rare neuroendocrine tumors derived from sympathetic paraganglionic tissue within the bladder wall, accounting for <1% of all Pheochromocytomas and Paragangliomas (PPGLs). >40% of PPGLs are associated with inherited syndromes through mutations affecting citric acid cycle enzymes (commonly SDH). Susceptibility gene identification has important implications for long-term care and facilitates targeted cascade genetic screening. Functional imaging using MIBG, Gallium DOTATATE and FDG-PET have become important tools in both diagnosis and treatment (Peptide Receptor Radionuclide Therapy).
机译:介绍:膀胱Paragangliomas(PGL)是碱性神经内分泌肿瘤源自膀胱壁内的交感神经阴离子组织,占所有Pheochromocytomas和Papgriomas(PPGLS)的<1%。 > 40%的PPGLs通过影响柠檬酸循环酶(常见的SDH)的突变与遗传综合征有关。易感性基因鉴定对长期护理具有重要意义,并促进靶向级联遗传筛查。使用MIBG功能成像,镓Dotatate和FDG-PET已成为诊断和治疗(肽受体放射性核素治疗)的重要工具。

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