Molecular Landscape of Pediatric Low-Grade Gliomas: Insights From RNA-NGS and Bioinformatic Analysis.

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F27283933%3A_____%2F25%3AN0000018" target="_blank" >RIV/27283933:_____/25:N0000018 - isvavai.cz</a>

Nalezeny alternativní kódy

RIV/00216208:11130/25:10503930 RIV/00064203:_____/25:10503930

Výsledek na webu

<a href="https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70085" target="_blank" >https://onlinelibrary.wiley.com/doi/epdf/10.1002/gcc.70085</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1002/gcc.70085" target="_blank" >10.1002/gcc.70085</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Molecular Landscape of Pediatric Low-Grade Gliomas: Insights From RNA-NGS and Bioinformatic Analysis.

Popis výsledku v původním jazyce

Pediatric low-grade gliomas (pLGG) are the most common group of childhood brain tumors. Genetic alterations in the RAS–RAF–mitogen-activated protein kinase (MAPK) pathway are the molecular drivers in the vast majority of pLGG. A large pro-portion of pediatric pLGG are characterized by the presence of fusion genes. An institutional molecular analysis together withan RNA-NGS study was performed to reveal LGG-associated molecular alterations. In our cohort of pLGG patients, molecularalterations were identified in 318 out of 342 cases (92.9%) through a combination of RT-PCR, Sanger sequencing, and NGS meth-odologies. Fusion events were independently called using three fusion callers: Archer Analysis 6.0 and/or 7.0, Arriba version 2.4,and STAR-Fusion 24. Among these, STAR-Fusion had the lowest sensitivity, detecting rearrangements in only 67% of fusion-positive cases. In contrast, Arriba detected rearrangements in 97.77% of cases, while Archer detected rearrangements in 88.6%of cases. These findings highlight differences in detection efficiency among fusion callers, emphasizing the importance of toolselection in molecular diagnostics. The detection of fusion genes is very important for correct diagnosis, prognosis, and adequatetargeted treatment.

Název v anglickém jazyce

Molecular Landscape of Pediatric Low-Grade Gliomas: Insights From RNA-NGS and Bioinformatic Analysis.

Popis výsledku anglicky

Pediatric low-grade gliomas (pLGG) are the most common group of childhood brain tumors. Genetic alterations in the RAS–RAF–mitogen-activated protein kinase (MAPK) pathway are the molecular drivers in the vast majority of pLGG. A large pro-portion of pediatric pLGG are characterized by the presence of fusion genes. An institutional molecular analysis together withan RNA-NGS study was performed to reveal LGG-associated molecular alterations. In our cohort of pLGG patients, molecularalterations were identified in 318 out of 342 cases (92.9%) through a combination of RT-PCR, Sanger sequencing, and NGS meth-odologies. Fusion events were independently called using three fusion callers: Archer Analysis 6.0 and/or 7.0, Arriba version 2.4,and STAR-Fusion 24. Among these, STAR-Fusion had the lowest sensitivity, detecting rearrangements in only 67% of fusion-positive cases. In contrast, Arriba detected rearrangements in 97.77% of cases, while Archer detected rearrangements in 88.6%of cases. These findings highlight differences in detection efficiency among fusion callers, emphasizing the importance of toolselection in molecular diagnostics. The detection of fusion genes is very important for correct diagnosis, prognosis, and adequatetargeted treatment.

Druh

J_ost - Ostatní články v recenzovaných periodicích

CEP obor

—

OECD FORD obor

30101 - Human genetics

Projekt

<a href="/cs/project/LX22NPO5102" target="_blank" >LX22NPO5102: Národní ústav pro výzkum rakoviny</a><br>

Návaznosti

N - Vyzkumna aktivita podporovana z neverejnych zdroju

Rok uplatnění

2025

Kód důvěrnosti údajů

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

Název periodika

Genes, Chromosomes and Cancer

ISSN

1045-2257

e-ISSN

1098-2264

Svazek periodika

64

Číslo periodika v rámci svazku

10

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

12

Strana od-do

—

Kód UT WoS článku

001591880100001

EID výsledku v databázi Scopus

2-s2.0-105018398794