High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas.

Autor:	Guha A; Department of Otorhinolaryngology, Charles University, 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Prague, Czechia., Vicha A; Department of Pediatric Hematology and Oncology, Charles University, 2nd Faculty of Medicine and University Hospital Motol, Prague, Czechia., Zelinka T; 3rd Department of Medicine, Department of Endocrinology and Metabolsim of the 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czechia., Kana M; Department of Otorhinolaryngology and Head and Neck Surgery, Charles University, 1st Faculty of Medicine and University Hospital Motol, Prague, Czechia., Musil Z; Institute of Biology and Medical Genetics of the 1st Faculty of Medicine and General University Hospital in Prague, Prague, Czechia., Pacak K; Section of Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States., Betka J; Department of Otorhinolaryngology and Head and Neck Surgery, Charles University, 1st Faculty of Medicine and University Hospital Motol, Prague, Czechia., Chovanec M; Department of Otorhinolaryngology, Charles University, 3rd Faculty of Medicine and University Hospital Kralovske Vinohrady, Prague, Czechia., Plzak J; Department of Otorhinolaryngology and Head and Neck Surgery, Charles University, 1st Faculty of Medicine and University Hospital Motol, Prague, Czechia., Boucek J; Department of Otorhinolaryngology and Head and Neck Surgery, Charles University, 1st Faculty of Medicine and University Hospital Motol, Prague, Czechia.
Jazyk:	angličtina
Zdroj:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2023 Dec 08; Vol. 14, pp. 1278175. Date of Electronic Publication: 2023 Dec 08 (Print Publication: 2023).
DOI:	10.3389/fendo.2023.1278175
Abstrakt:	Introduction: Head and neck paragangliomas (HNPGLs) are rare neuroendocrine tumors, which are mostly benign in nature. Amongst all genes, Succinate Dehydrogenase Subunit D ( SDHD ) is the most commonly mutated in familial HNPGLs. In about 30% of HNPGLs, germline mutations in SDHD can also occur in the absence of positive family history, thus giving rise to "occult familial" cases. Our aim was to evaluate the pattern of SDHD germline mutations in Czech patients with HNPGLs. Materials and Methods: We analyzed a total of 105 patients with HNPGLs from the Otorhinolaryngology departments of 2 tertiary centers between 2006 - 2021. All underwent complex diagnostic work-up and were also consented for genetic analysis. Results: Eighty patients aged 13-76 years were included; around 60% with multiple PGLs were males. Carotid body tumor was the most frequently diagnosed tumor. Germline SDHD mutation was found in only 12% of the Czech patients; approximately 78% of those harboring the mutation had negative family history. The mutation traits had higher affiliation for multiple tumors with nearly 70% patients of ≤ 40 years of age. Conclusion: An SDHD mutation variant was shared amongst unrelated patients but no founder-effect was established. Our findings confirmed that the pattern of SDHD mutation distribution amongst HNPGLs in Czech Republic differs from most studies worldwide. Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision. (Copyright © 2023 Guha, Vicha, Zelinka, Kana, Musil, Pacak, Betka, Chovanec, Plzak and Boucek.)
Databáze:	MEDLINE
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