The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00216208:11110/25:10496718 RIV/00216208:11120/25:43928311 RIV/00216208:11130/25:10496718 RIV/00064203:_____/25:10496718 RIV/00064165:_____/25:10496718

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas

Popis výsledku v původním jazyce

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 &lt;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.

Název v anglickém jazyce

The genetic changes in 11p15.5-related pheochromocytomas and paragangliomas

Popis výsledku anglicky

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 &lt;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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30202 - Endocrinology and metabolism (including diabetes, hormones)

Projekt

—

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

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

Název periodika

Endocrine-Related Cancer

ISSN

1351-0088

e-ISSN

1479-6821

Svazek periodika

32

Číslo periodika v rámci svazku

5

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

8

Strana od-do

"e240330"

Kód UT WoS článku

001518872400015

EID výsledku v databázi Scopus

2-s2.0-105003547618