Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11120%2F21%3A43921618" target="_blank" >RIV/00216208:11120/21:43921618 - isvavai.cz</a>

Alternative codes found

RIV/00216208:11110/21:10428131 RIV/00064203:_____/21:10428131 RIV/00064165:_____/21:10428131 RIV/00064173:_____/21:N0000171

Result on the web

<a href="https://doi.org/10.3390/biomedicines9060626" target="_blank" >https://doi.org/10.3390/biomedicines9060626</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.3390/biomedicines9060626" target="_blank" >10.3390/biomedicines9060626</a>

Result language

angličtina

Original language name

Genetic Variants in Patients with Multiple Head and Neck Paragangliomas: Dilemma in Management

Original language description

Multiple head and neck paragangliomas (HNPGLs) are neuroendocrine tumors of a mostly benign nature that can be associated with a syndrome, precipitated by the presence of a germline mutation. Familial forms of the disease are usually seen with mutations of SDHx genes, especially the SDHD gene. SDHB mutations are predisposed to malignant tumors. We found 6 patients with multiple tumors amongst 30 patients with HNPGLs during the period of 2016 to 2021. We discuss the phenotypic and genetic patterns in our patients with multiple HNPGLs and explore the management possibilities related to the disease. Fifty percent of our patients had incidental findings of HNPGLs. Twenty-one biochemically silent tumors were found. Four patients had germline mutations, and only one had a positive family history. Three out of five underwent surgery without permanent complications. Preventative measures (genetic counselling and tumor surveillance) represent the gold standard in effectively controlling the disease in index patients and their relatives. In terms of treatment, apart from surgical and radiotherapeutic interventions, new therapeutic measures such as gene targeted therapy have contributed very sparsely. With the lack of standardized protocols, management of patients with multiple HNPGLs still remains very challenging, especially in those with sporadic or malignant forms of the disease.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

30206 - Otorhinolaryngology

Project

—

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2021

Confidentiality

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

Name of the periodical

Biomedicines

ISSN

2227-9059

e-ISSN

—

Volume of the periodical

9

Issue of the periodical within the volume

6

Country of publishing house

CH - SWITZERLAND

Number of pages

13

Pages from-to

626

UT code for WoS article

000665315700001

EID of the result in the Scopus database

2-s2.0-85107818836