sábado, 27 de octubre de 2018

Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging. - PubMed - NCBI

2018 Sep 1. pii: /journals/ec/aop/ec-18-0318.xml. doi: 10.1530/EC-18-0318. [Epub ahead of print]

Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging.

Rogowski-Lehmann N1, Geroula A2, Prejbisz A3, Timmers HJLM4, Megerle F5, Robledo M6, Fassnacht M7, Fliedner S8, Reincke M9, Stell A10, Januszewicz A11, Lenders J12, Eisenhofer G13, Beuschlein F14.

Author information

Abstract

CONTEXT:

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 6 European centers with confirmed PPGLs.

SETTING AND PATIENTS:

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.

RESULTS:

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 in fPPGL (60.9%) and sPPGL (21.5%).

CONCLUSIONS:

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.