A Case for Genetic Testing in Isolated Tympanic Paragangliomas.
Journal
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
ISSN: 1537-4505
Titre abrégé: Otol Neurotol
Pays: United States
ID NLM: 100961504
Informations de publication
Date de publication:
01 08 2022
01 08 2022
Historique:
pubmed:
9
7
2022
medline:
28
7
2022
entrez:
8
7
2022
Statut:
ppublish
Résumé
The aim of this study is to describe two clinical cases, which we believe highlight the need to consider routine genetic testing of all patients with new diagnosis of a tympanic paraganglioma (PGL). Two patients seen in the ENT clinic at a tertiary center with a diagnosis of isolated tympanic PGL, without family history. Since 2016, all patients with newly diagnosed isolated tympanic PGL (glomus tympanicum) are offered review by the clinical genetic team and genetic testing of a panel of paraganglioma/phaeochromocytoma predisposition genes. Previously only those with multiple PGL or a family history were tested. We describe the results of genetic testing, the clinical course and discuss the ongoing implications for management. Both cases were identified to have a pathogenic variant in the SDHB gene after initial surgery. The clinical course for both cases was complicated by disease recurrence, as well as metastatic and secretory disease in one case. Knowledge of genetic status has influenced ongoing management, with annual MRI surveillance for other SDH-related tumors. These two cases reinforce the importance of offering genetic testing for all cases of isolated tympanic PGL. The discovery of a significant underlying genetic variant may affect management decisions and subsequent follow-up.
Identifiants
pubmed: 35802032
doi: 10.1097/MAO.0000000000003557
pii: 00129492-202208000-00028
doi:
Substances chimiques
Succinate Dehydrogenase
EC 1.3.99.1
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
840-844Informations de copyright
Copyright © 2022, Otology & Neurotology, Inc.
Déclaration de conflit d'intérêts
The authors disclose no conflicts of interest.
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