High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064165%3A_____%2F23%3A10472599" target="_blank" >RIV/00064165:_____/23:10472599 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11130/23:10472599 RIV/00216208:11110/23:10472599 RIV/00216208:11120/23:43926238 RIV/00064173:_____/23:43926238 RIV/00064203:_____/23:10472599
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YLJRh3gQfY" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=YLJRh3gQfY</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.3389/fendo.2023.1278175" target="_blank" >10.3389/fendo.2023.1278175</a>
Alternative languages
Result language
angličtina
Original language name
High incidence of occult familial SDHD cases amongst Czech patients with head and neck paragangliomas
Original language description
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.
Czech name
—
Czech description
—
Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
—
OECD FORD branch
30206 - Otorhinolaryngology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2023
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Frontiers in Endocrinology
ISSN
1664-2392
e-ISSN
1664-2392
Volume of the periodical
14
Issue of the periodical within the volume
December
Country of publishing house
CH - SWITZERLAND
Number of pages
8
Pages from-to
1278175
UT code for WoS article
001130231700001
EID of the result in the Scopus database
2-s2.0-85180841551