Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging. Issue 11 (November 2018)

• Record Type: Journal Article
• Authors: 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
• Is Part Of: Endocrine connections. Volume 7:Issue 11(2018)
• Page Start: 1168
• Page End: 1177
• Publication Date: 2018-11
• Subjects: pheochromocytoma -- paraganglioma -- imaging -- signs and symptoms -- prospective; Endocrinology -- Periodicals; 616.4005
• DOI: 10.1530/EC-18-0318
• Languages: English
• ISSNs: 2049-3614

Abstract

Abstract : Background: 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. Objective: 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). Design: 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.