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

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11130/23:10472599 RIV/00216208:11110/23:10472599 RIV/00216208:11120/23:43926238 RIV/00064173:_____/23:43926238 RIV/00064203:_____/23:10472599

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 &quot;occult familial&quot; 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 &lt;= 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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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 &quot;occult familial&quot; 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 &lt;= 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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30206 - Otorhinolaryngology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Rok uplatnění

2023

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Frontiers in Endocrinology

ISSN

1664-2392

e-ISSN

1664-2392

Svazek periodika

14

Číslo periodika v rámci svazku

December

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

8

Strana od-do

1278175

Kód UT WoS článku

001130231700001

EID výsledku v databázi Scopus

2-s2.0-85180841551