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 diffe...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Bioscientifica
2018-10-01
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| Series: | Endocrine Connections |
| Subjects: | |
| Online Access: | https://ec.bioscientifica.com/view/journals/ec/7/11/EC-18-0318.xml |
| _version_ | 1818310095945072640 |
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| author | Natalie Rogowski-Lehmann Aikaterini Geroula Aleksander Prejbisz Henri J L M Timmers Felix Megerle Mercedes Robledo Martin Fassnacht Stephanie M J Fliedner Martin Reincke Anthony Stell Andrzej Januszewicz Jacques W M Lenders Graeme Eisenhofer Felix Beuschlein |
| author_facet | Natalie Rogowski-Lehmann Aikaterini Geroula Aleksander Prejbisz Henri J L M Timmers Felix Megerle Mercedes Robledo Martin Fassnacht Stephanie M J Fliedner Martin Reincke Anthony Stell Andrzej Januszewicz Jacques W M Lenders Graeme Eisenhofer Felix Beuschlein |
| author_sort | Natalie Rogowski-Lehmann |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T07:40:37Z |
| format | Article |
| id | doaj.art-7f2906961ce243df944d1703dc2ee63d |
| institution | Directory Open Access Journal |
| issn | 2049-3614 2049-3614 |
| language | English |
| last_indexed | 2024-12-13T07:40:37Z |
| publishDate | 2018-10-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Connections |
| spelling | doaj.art-7f2906961ce243df944d1703dc2ee63d2022-12-21T23:54:58ZengBioscientificaEndocrine Connections2049-36142049-36142018-10-0171111681177https://doi.org/10.1530/EC-18-0318Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imagingNatalie Rogowski-Lehmann0Aikaterini Geroula1Aleksander Prejbisz2Henri J L M Timmers3Felix Megerle4Mercedes Robledo5Martin Fassnacht6Stephanie M J Fliedner7Martin Reincke8Anthony Stell9Andrzej Januszewicz10Jacques W M Lenders11Graeme Eisenhofer12Felix Beuschlein13Medizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, GermanyInstitut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, GermanyDepartment of Hypertension, Institute of Cardiology, Warsaw, PolandSection of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The NetherlandsMedizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, GermanyHereditary Endocrine Cancer Group, Human Cancer Genetics Programme, Spanish National Cancer Research Centre, Centro de Investigacion Biomedica en Red de Enfermedades Raras (CIBERER), Madrid, SpainMedizinische Klinik und Poliklinik I des Universitätsklinikums Würzburg, Würzburg, GermanyFirst Department of Medicine, University Medical Center Schleswig-Holstein, Lübeck, GermanyMedizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, GermanyDepartment of Computing and Information, University of Melbourne, Melbourne AustraliaDepartment of Hypertension, Institute of Cardiology, Warsaw, PolandSection of Endocrinology, Department of Internal Medicine, Radboud University Medical Centre, Nijmegen, The Netherlands; Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, GermanyInstitut für Klinische Chemie und Laboratoriumsmedizin, Universitätsklinikum Carl Gustav Carus an der TU Dresden, Dresden, Germany; Medizinische Klinik III, Universitätsklinikum Carl Gustav Carus an der Technische Universität Dresden, Dresden, GermanyMedizinische Klinik und Poliklinik IV, Klinikum der Universität München, Munich, Germany; Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Universitätsspital Zürich, Zürich, Switzerland 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.https://ec.bioscientifica.com/view/journals/ec/7/11/EC-18-0318.xmlpheochromocytomaparagangliomaimagingsigns and symptomsprospective |
| spellingShingle | Natalie Rogowski-Lehmann Aikaterini Geroula Aleksander Prejbisz Henri J L M Timmers Felix Megerle Mercedes Robledo Martin Fassnacht Stephanie M J Fliedner Martin Reincke Anthony Stell Andrzej Januszewicz Jacques W M Lenders Graeme Eisenhofer Felix Beuschlein Missed clinical clues in patients with pheochromocytoma/paraganglioma discovered by imaging Endocrine Connections pheochromocytoma paraganglioma imaging signs and symptoms prospective |
| 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 | pheochromocytoma paraganglioma imaging signs and symptoms prospective |
| url | https://ec.bioscientifica.com/view/journals/ec/7/11/EC-18-0318.xml |
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