Martucci Victoria L, Lorenzo Zarina G, Weintraub Michael, del Rivero Jaydira, Ling Alexander, Merino Maria, Siddiqui Minhaj, Shuch Brian, Vourganti Srinivas, Linehan W Marston, Agarwal Piyush K, Pacak Karel
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD.
Program in Reproductive and Adult Endocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD; Section of Endocrinology and Metabolism, Department of Medicine, University of Santo Tomas Hospital, Manila, Philippines.
Urol Oncol. 2015 Apr;33(4):167.e13-20. doi: 10.1016/j.urolonc.2014.11.017. Epub 2015 Feb 13.
Our primary goal was to examine the clinical characteristics of a series of patients with urinary bladder paragangliomas (UBPGLs), focusing particularly on their genetic backgrounds.
We analyzed the medical records of patients who presented to the National Institutes of Health with UBPGL from 2000 to 2013 to determine their clinical characteristics and outcomes, biochemical phenotype, tumor size, and genetic background.
Of the 27 patients with UBPGLs who were identified, 17 (63%) had underlying genetic mutations. Overall, 14 (51.9%) patients had a germline mutation in the succinate dehydrogenase subunit B gene (SDHB), and 3 (11.1%) had mutations in the von Hippel-Lindau gene (VHL). Of the 21 patients who had biochemical data available before their first operation, 19 (90.5%) presented with a noradrenergic biochemical phenotype; 7 (33.3%) patients had tumors that also secreted dopamine. In addition, 1 patient (4.8%) had elevated metanephrine levels, and 2 (9.5%) had normal biochemical data. In total, 13 (48.1%) patients in the series were diagnosed with metastatic disease, at either first presentation or follow-up; 6 of these patients (46.1%) had SDHB mutations.
UBPGLs typically present with a noradrenergic phenotype and are frequently associated with underlying germline mutations. Patients presenting with these rare neuroendocrine tumors should be screened for these mutations. In addition, patients with UBPGLs should be followed up closely for metastatic development regardless of genetic background, as almost half of the patients in this series presented with metastatic disease and less than half of them had SDHB mutations.
我们的主要目标是研究一系列膀胱副神经节瘤（UBPGLs）患者的临床特征，尤其关注其基因背景。
我们分析了2000年至2013年就诊于美国国立卫生研究院的UBPGLs患者的病历，以确定其临床特征及转归、生化表型、肿瘤大小和基因背景。
在确诊的27例UBPGLs患者中，17例（63%）存在潜在基因突变。总体而言，14例（51.9%）患者琥珀酸脱氢酶亚基B基因（SDHB）发生胚系突变，3例（11.1%）患者冯·希佩尔－林道基因（VHL）发生突变。在首次手术前有生化数据的21例患者中，19例（90.5%）表现为去甲肾上腺素能生化表型；7例（33.3%）患者的肿瘤还分泌多巴胺。此外，1例患者（4.8%）间甲肾上腺素水平升高，2例（9.5%）生化数据正常。该系列中共有13例（48.1%）患者在首次就诊或随访时被诊断为转移性疾病；其中6例（46.1%）患者存在SDHB突变。
UBPGLs通常表现为去甲肾上腺素能表型，且常与潜在的胚系突变相关。对于患有这些罕见神经内分泌肿瘤的患者，应筛查这些突变。此外，无论基因背景如何，UBPGLs患者均应密切随访有无转移进展，因为该系列中近一半患者表现为转移性疾病，且其中不到一半患者存在SDHB突变。
