A Four-Generational Report on Hereditary Head and Neck Paraganglioma

Background This article investigates the inheritance, penetrance, clinical presentation, and therapeutic outcomes of hereditary head and neck paragangliomas (HNPGLs) by offering a four-generational report of an 18-member family affected by this rare condition. Methodology Information was compiled by...

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Autores principales: Trache, Mihnea Cristian, Bewarder, Julian, Betz, Christian Stephan, Möckelmann, Nikolaus, Böttcher, Arne
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107318/
https://www.ncbi.nlm.nih.gov/pubmed/35582561
http://dx.doi.org/10.7759/cureus.24143
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author Trache, Mihnea Cristian
Bewarder, Julian
Betz, Christian Stephan
Möckelmann, Nikolaus
Böttcher, Arne
author_facet Trache, Mihnea Cristian
Bewarder, Julian
Betz, Christian Stephan
Möckelmann, Nikolaus
Böttcher, Arne
author_sort Trache, Mihnea Cristian
collection PubMed
description Background This article investigates the inheritance, penetrance, clinical presentation, and therapeutic outcomes of hereditary head and neck paragangliomas (HNPGLs) by offering a four-generational report of an 18-member family affected by this rare condition. Methodology Information was compiled by examination of patients and a review of medical records and correspondence (retrospective case series). Results Six members of the 18-member family were diagnosed with HNPGL between 2002 and 2018. A known pathogenic point mutation in subunit D of the succinyl dehydrogenase complex (SDHD, c.317G>T, p.Gly106Val) was responsible for the tumor phenotype. The mutation could be revealed in seven family members, three diseased adults, one healthy adult, and three healthy children, out of the nine who consented to gene testing. The median age at diagnosis was 33.5 years (range: 22-50 years). Five of the eight primary tumors were glomus caroticum, two were glomus jugulare, and one was a glomus vagale tumor. The therapeutic approaches were multimodal and included embolization therapy, surgery, radiation, and watchful waiting. Follow-up was reported for five of the six patients (mean follow-up of 34.8 months after primary therapy); three showed no disease progression or recurrence. Conclusions This study exemplifies the autosomal dominant, parent-of-origin-dependent inheritance and the high disease penetrance in hereditary paraganglioma-pheochromocytoma syndromes. Six out of a total of eight adult descendants (75%) of the original SDHD mutation carrier developed tumors, and the morbidity associated with the disease as well as its therapy was especially high in late-diagnosed, advanced cases. This substantiates the necessity for early radiologic surveillance and genetic testing.
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spelling pubmed-91073182022-05-16 A Four-Generational Report on Hereditary Head and Neck Paraganglioma Trache, Mihnea Cristian Bewarder, Julian Betz, Christian Stephan Möckelmann, Nikolaus Böttcher, Arne Cureus Genetics Background This article investigates the inheritance, penetrance, clinical presentation, and therapeutic outcomes of hereditary head and neck paragangliomas (HNPGLs) by offering a four-generational report of an 18-member family affected by this rare condition. Methodology Information was compiled by examination of patients and a review of medical records and correspondence (retrospective case series). Results Six members of the 18-member family were diagnosed with HNPGL between 2002 and 2018. A known pathogenic point mutation in subunit D of the succinyl dehydrogenase complex (SDHD, c.317G>T, p.Gly106Val) was responsible for the tumor phenotype. The mutation could be revealed in seven family members, three diseased adults, one healthy adult, and three healthy children, out of the nine who consented to gene testing. The median age at diagnosis was 33.5 years (range: 22-50 years). Five of the eight primary tumors were glomus caroticum, two were glomus jugulare, and one was a glomus vagale tumor. The therapeutic approaches were multimodal and included embolization therapy, surgery, radiation, and watchful waiting. Follow-up was reported for five of the six patients (mean follow-up of 34.8 months after primary therapy); three showed no disease progression or recurrence. Conclusions This study exemplifies the autosomal dominant, parent-of-origin-dependent inheritance and the high disease penetrance in hereditary paraganglioma-pheochromocytoma syndromes. Six out of a total of eight adult descendants (75%) of the original SDHD mutation carrier developed tumors, and the morbidity associated with the disease as well as its therapy was especially high in late-diagnosed, advanced cases. This substantiates the necessity for early radiologic surveillance and genetic testing. Cureus 2022-04-14 /pmc/articles/PMC9107318/ /pubmed/35582561 http://dx.doi.org/10.7759/cureus.24143 Text en Copyright © 2022, Trache et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Genetics
Trache, Mihnea Cristian
Bewarder, Julian
Betz, Christian Stephan
Möckelmann, Nikolaus
Böttcher, Arne
A Four-Generational Report on Hereditary Head and Neck Paraganglioma
title A Four-Generational Report on Hereditary Head and Neck Paraganglioma
title_full A Four-Generational Report on Hereditary Head and Neck Paraganglioma
title_fullStr A Four-Generational Report on Hereditary Head and Neck Paraganglioma
title_full_unstemmed A Four-Generational Report on Hereditary Head and Neck Paraganglioma
title_short A Four-Generational Report on Hereditary Head and Neck Paraganglioma
title_sort four-generational report on hereditary head and neck paraganglioma
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9107318/
https://www.ncbi.nlm.nih.gov/pubmed/35582561
http://dx.doi.org/10.7759/cureus.24143
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