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Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging
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 differ...
Autores principales: | , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Bioscientifica Ltd
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215794/ https://www.ncbi.nlm.nih.gov/pubmed/30352425 http://dx.doi.org/10.1530/EC-18-0318 |
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author | 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 |
author_facet | 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 |
author_sort | Rogowski-Lehmann, Natalie |
collection | PubMed |
description | 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. |
format | Online Article Text |
id | pubmed-6215794 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Bioscientifica Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-62157942018-11-07 Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging 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 Endocr Connect Research 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. Bioscientifica Ltd 2018-09-10 /pmc/articles/PMC6215794/ /pubmed/30352425 http://dx.doi.org/10.1530/EC-18-0318 Text en © 2018 The authors http://creativecommons.org/licenses/by-nc/4.0/ This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License (http://creativecommons.org/licenses/by-nc/4.0/) . |
spellingShingle | Research 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 Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging |
title | Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging |
title_full | Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging |
title_fullStr | Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging |
title_full_unstemmed | Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging |
title_short | Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging |
title_sort | missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging |
topic | Research |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6215794/ https://www.ncbi.nlm.nih.gov/pubmed/30352425 http://dx.doi.org/10.1530/EC-18-0318 |
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