Cargando…

Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes

BACKGROUND: Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding subunits of succinate dehydrogenase (SDHx) complex. The aim of this study was to determine the frequency and location of...

Descripción completa

Detalles Bibliográficos
Autores principales: Michałowska, Ilona, Lewczuk, Anna, Ćwikła, Jarosław, Prejbisz, Aleksander, Swoboda-Rydz, Urszula, Furmanek, Mariusz I., Szperl, Małgorzata, Januszewicz, Andrzej, Pęczkowska, Mariola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102251/
https://www.ncbi.nlm.nih.gov/pubmed/27867439
http://dx.doi.org/10.12659/PJR.897490
_version_ 1782466404716380160
author Michałowska, Ilona
Lewczuk, Anna
Ćwikła, Jarosław
Prejbisz, Aleksander
Swoboda-Rydz, Urszula
Furmanek, Mariusz I.
Szperl, Małgorzata
Januszewicz, Andrzej
Pęczkowska, Mariola
author_facet Michałowska, Ilona
Lewczuk, Anna
Ćwikła, Jarosław
Prejbisz, Aleksander
Swoboda-Rydz, Urszula
Furmanek, Mariusz I.
Szperl, Małgorzata
Januszewicz, Andrzej
Pęczkowska, Mariola
author_sort Michałowska, Ilona
collection PubMed
description BACKGROUND: Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding subunits of succinate dehydrogenase (SDHx) complex. The aim of this study was to determine the frequency and location of HNP among SDHx carriers. MATERIAL/METHODS: A total of 72 patients with SDHx mutations underwent computed tomography examinations of the head and neck. HNP were present in 44 (61.1%) out of 72 patients (31 SDHD, 11 SDHB, 2 SDHC); 113 HNP were found; the most common were carotid paragangliomas (59) and vagal paragangliomas (27). RESULTS: The HNP were statistically more frequent in carriers of SDHD mutations compared to carriers of SDHB mutations (72.1% vs. 43.5%, p=0.033). Multiple tumors more often occurred in patients with SDHD mutations 26/31 (83.9%) than in patients with SDHB mutations 6/11 (54.5%) p=0.05. There was a significant difference in the prevalence of carotid paragangliomas between patients with SDHB and SDHD mutations (7/11 [63.6%] vs. 30/31 [96.8%], respectively, p=0.004). Patients with SDHD mutations more often had carotid paragangliomas located on the left side than on the right side, as compared to SDHB mutations 25/31 (80.6%) vs. 4/11 (36.4%), p=0.006. CONCLUSIONS: SDHx mutations predispose to multifocal and bilateral HNP. Carotid and vagal paragangliomas occurred most often. Patients with SDHD mutations are characterized by higher frequency of HNP than patients with SDHB mutations, which is mainly driven by higher frequency of carotid body tumors in patients with SDHD mutations. No difference in the frequency of head and neck paragangliomas in other locations was found.
format Online
Article
Text
id pubmed-5102251
institution National Center for Biotechnology Information
language English
publishDate 2016
publisher International Scientific Literature, Inc.
record_format MEDLINE/PubMed
spelling pubmed-51022512016-11-18 Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes Michałowska, Ilona Lewczuk, Anna Ćwikła, Jarosław Prejbisz, Aleksander Swoboda-Rydz, Urszula Furmanek, Mariusz I. Szperl, Małgorzata Januszewicz, Andrzej Pęczkowska, Mariola Pol J Radiol Original Article BACKGROUND: Hereditary head and neck paragangliomas (HNP) are very often associated with pheochromocytoma-paraganglioma syndromes, which are caused by mutations in genes encoding subunits of succinate dehydrogenase (SDHx) complex. The aim of this study was to determine the frequency and location of HNP among SDHx carriers. MATERIAL/METHODS: A total of 72 patients with SDHx mutations underwent computed tomography examinations of the head and neck. HNP were present in 44 (61.1%) out of 72 patients (31 SDHD, 11 SDHB, 2 SDHC); 113 HNP were found; the most common were carotid paragangliomas (59) and vagal paragangliomas (27). RESULTS: The HNP were statistically more frequent in carriers of SDHD mutations compared to carriers of SDHB mutations (72.1% vs. 43.5%, p=0.033). Multiple tumors more often occurred in patients with SDHD mutations 26/31 (83.9%) than in patients with SDHB mutations 6/11 (54.5%) p=0.05. There was a significant difference in the prevalence of carotid paragangliomas between patients with SDHB and SDHD mutations (7/11 [63.6%] vs. 30/31 [96.8%], respectively, p=0.004). Patients with SDHD mutations more often had carotid paragangliomas located on the left side than on the right side, as compared to SDHB mutations 25/31 (80.6%) vs. 4/11 (36.4%), p=0.006. CONCLUSIONS: SDHx mutations predispose to multifocal and bilateral HNP. Carotid and vagal paragangliomas occurred most often. Patients with SDHD mutations are characterized by higher frequency of HNP than patients with SDHB mutations, which is mainly driven by higher frequency of carotid body tumors in patients with SDHD mutations. No difference in the frequency of head and neck paragangliomas in other locations was found. International Scientific Literature, Inc. 2016-10-31 /pmc/articles/PMC5102251/ /pubmed/27867439 http://dx.doi.org/10.12659/PJR.897490 Text en © Pol J Radiol, 2016 This is an open access article. Unrestricted non-commercial use is permitted provided the original work is properly cited.
spellingShingle Original Article
Michałowska, Ilona
Lewczuk, Anna
Ćwikła, Jarosław
Prejbisz, Aleksander
Swoboda-Rydz, Urszula
Furmanek, Mariusz I.
Szperl, Małgorzata
Januszewicz, Andrzej
Pęczkowska, Mariola
Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes
title Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes
title_full Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes
title_fullStr Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes
title_full_unstemmed Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes
title_short Evaluation of Head and Neck Paragangliomas by Computed Tomography in Patients with Pheochromocytoma-Paraganglioma Syndromes
title_sort evaluation of head and neck paragangliomas by computed tomography in patients with pheochromocytoma-paraganglioma syndromes
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5102251/
https://www.ncbi.nlm.nih.gov/pubmed/27867439
http://dx.doi.org/10.12659/PJR.897490
work_keys_str_mv AT michałowskailona evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT lewczukanna evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT cwikłajarosław evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT prejbiszaleksander evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT swobodarydzurszula evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT furmanekmariuszi evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT szperlmałgorzata evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT januszewiczandrzej evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes
AT peczkowskamariola evaluationofheadandneckparagangliomasbycomputedtomographyinpatientswithpheochromocytomaparagangliomasyndromes