The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064173%3A_____%2F25%3A43928311" target="_blank" >RIV/00064173:_____/25:43928311 - isvavai.cz</a>
Alternative codes found
RIV/00216208:11110/25:10496718 RIV/00216208:11120/25:43928311 RIV/00216208:11130/25:10496718 RIV/00064203:_____/25:10496718 RIV/00064165:_____/25:10496718
Result on the web
<a href="https://doi.org/10.1530/ERC-24-0330" target="_blank" >https://doi.org/10.1530/ERC-24-0330</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1530/ERC-24-0330" target="_blank" >10.1530/ERC-24-0330</a>
Alternative languages
Result language
angličtina
Original language name
The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas
Original language description
Pheochromocytomas and paragangliomas are neuroendocrine tumors. The development of these tumors is associated with more than 20 genes. These genes are divided into 3 clusters: pseudohypoxic, kinase-signaling, and Wnt. The pseudohypoxic cluster is the only one that is associated with DNA methylation changes, including changes in the 11p15.5 region. The aim of this study was to identify changes in the 11p15.5 region and their frequency in pheochromocytomas and paragangliomas. And compare with genomic and somatic mutations that cluster pheochromocytomas and paragangliomas. To identify alterations in the 11p15.5 region, we used the MS-MLPA technique. The results of this assay were then compared with those obtained from the SNP array (850k, Illumina). 150 samples were examined by both techniques. A total of 90 cases (60%) exhibited no alterations in the 11p15.5 region. The most common changes were maternal allele loss in 45 cases (30%), pUPD in 5 cases (3.33%) and paternal allele gain in 4 cases (2.67%). A statistically significant difference was observed in the frequency of alterations in the 11p15.5 region when comparing cluster 1 and cluster 2 (p-value <0.0001). We found that there are other alternations in the 11p15.5 region in pheochromocytomas and paragangliomas in addition to the previously described deletion of the maternal allele. This study is the first to describe pUPD and paternal allele gain in pheochromocytomas and paragangliomas. We also show that alterations in the 11p15.5 region are not unique to cluster 1.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30202 - Endocrinology and metabolism (including diabetes, hormones)
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2025
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Endocrine-Related Cancer
ISSN
1351-0088
e-ISSN
1479-6821
Volume of the periodical
32
Issue of the periodical within the volume
5
Country of publishing house
GB - UNITED KINGDOM
Number of pages
8
Pages from-to
"e240330"
UT code for WoS article
001518872400015
EID of the result in the Scopus database
2-s2.0-105003547618