Rogowski-Lehmann Natalie, Geroula Aikaterini, Prejbisz Aleksander, Timmers Henri J L M, Megerle Felix, Robledo Mercedes, Fassnacht Martin, Fliedner Stephanie M J, Reincke Martin, Stell Anthony, Januszewicz Andrzej, Lenders Jacques W M, Eisenhofer Graeme, Beuschlein Felix
Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany.
Institut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany.
Endocr Connect. 2018 Nov;7(11):1168-1177. doi: 10.1530/EC-18-0318.
Pheochromocytomas and paragangliomas (PPGLs) are rare but potentially harmful tumors that can vary in their clinical presentation. Tumors may be found due to signs and symptoms, as part of a hereditary syndrome or following an imaging procedure.
To investigate potential differences in clinical presentation between PPGLs discovered by imaging (iPPGLs), symptomatic cases (sPPGLs) and those diagnosed during follow-up because of earlier disease/known hereditary mutations (fPPGL).
Prospective study protocol, which has enrolled patients from six European centers with confirmed PPGLs. Data were analyzed from 235 patients (37 iPPGLs, 36 sPPGLs, 27% fPPGLs) and compared for tumor volume, biochemical profile, mutation status, presence of metastases and self-reported symptoms. iPPGL patients were diagnosed at a significantly higher age than fPPGLs (P < 0.001), found to have larger tumors (P = 0.003) and higher metanephrine and normetanephrine levels at diagnosis (P = 0.021). Significantly lower than in sPPGL, there was a relevant number of self-reported symptoms in iPPGL (2.9 vs 4.3 symptoms, P < 0.001). In 16.2% of iPPGL, mutations in susceptibility genes were detected, although this proportion was lower than that in fPPGL (60.9%) and sPPGL (21.5%). Patients with PPGLs detected by imaging were older, have higher tumor volume and more excessive hormonal secretion in comparison to those found as part of a surveillance program. Presence of typical symptoms indicates that in a relevant proportion of those patients, the PPGL diagnosis had been delayed.
PRÉCIS: Pheochromocytoma/paraganglioma discovered by imaging are often symptomatic and carry a significant proportion of germline mutations in susceptibility genes.
嗜铬细胞瘤和副神经节瘤（PPGLs）虽罕见但可能有害，临床表现各异。肿瘤可因体征和症状被发现，或是遗传性综合征的一部分，或在影像学检查后被发现。
研究通过影像学发现的PPGLs（iPPGLs）、有症状的病例（sPPGLs）以及因早期疾病/已知遗传突变在随访期间被诊断出的PPGLs（fPPGL）在临床表现上的潜在差异。
前瞻性研究方案，纳入了来自六个欧洲中心确诊为PPGLs的患者。对235例患者（37例iPPGLs、36例sPPGLs、27%为fPPGLs）的数据进行分析，比较肿瘤体积、生化指标、突变状态、转移情况及自我报告的症状。iPPGL患者的诊断年龄显著高于fPPGLs（P<0.001），诊断时肿瘤更大（P = 0.003），去甲肾上腺素和甲氧基去甲肾上腺素水平更高（P = 0.021）。iPPGL患者自我报告的症状数量明显低于sPPGL（2.9种症状对4.3种症状，P<0.001）。在16.2%的iPPGL中检测到易感基因突变，尽管这一比例低于fPPGL（60.9%）和sPPGL（21.5%）。与通过监测计划发现的患者相比，通过影像学检测出PPGLs的患者年龄更大，肿瘤体积更大，激素分泌更多。典型症状的存在表明，在相当比例的这些患者中，PPGL的诊断被延迟了。
通过影像学发现的嗜铬细胞瘤/副神经节瘤通常有症状，且在易感基因中携带相当比例的种系突变。
