PhD Scientific Days 2025

Poster Session I. - D: Pathological and Oncological Sciences

Comprehensive Genomic Profiling Reveals Possible Targeted Treatment Options and Novel Variants in Pediatric Primary Central Nervous System Tumors

Előadó neve

Dr. Bedics Gábor

Neptun code

XA7QBG

Előadó munkahelye

Semmelweis University, Department of Pathology and Experimental Cancer Research

Előadó telefonszáma

+36304371071

Előadó e-mail címe

bedics.gabor@semmelweis.hu

Az előadás címe

Comprehensive Genomic Profiling Reveals Possible Targeted Treatment Options and Novel Variants in Pediatric Primary Central Nervous System Tumors

Szerző(k) neve és munkahelye

Gábor Bedics¹, Edit Brückner², Janka Czirják¹, Miklós Garami², Csaba Bödör¹

1: Semmelweis University, Department of Pathology and Experimental Cancer Research
2: Semmelweis University, Pediatric Center

Bemutatás módja

Poszter

Szekció

Poster Session I. - D: Pathological and Oncological Sciences

Language of the presentation

Hungarian

Preferred session

Pathological and Oncological Sciences

Összefoglaló szövege

The outcomes of pediatric patients with primary central nervous system (CNS) tumors have significantly improved over the past decades. However, CNS tumors remain the leading cause of cancer-related mortality in children, highlighting the urgent need for further advancements in treatment strategies. Comprehensive genomic profiling (CGP) holds promise for enhancing our understanding of the pathogenesis of these tumors and can be utilized to identify potential therapeutic targets, ultimately supporting the development of personalized treatment approaches for affected patients.

Diagnostic samples of 42 pediatric patients with low- or high-grade primary CNS tumors were investigated using the Illumina TruSight Oncology 500 assay. Single nucleotide variants (SNV), small insertions and deletions, copy number alterations and gene fusions were analyzed along with microsatellite instability status and the tumor mutation burden. Actionable variants were determined using the QIAGEN Clinical Insight platform.

Potentially targetable genomic alterations were identified in 69.0% (29/42) of the patients. Pathogenic SNVs, insertions and deletions were detected in 66.7% (28/42) of the patients with TP53, NTRK3 and FAT1 genes representing the most frequently affected loci. Twenty gene amplifications were uncovered in 19.0% patients, with MYC, PDGFRA and KIT genes being the most frequently revealed alterations. Gene fusions were detected in 10 (23.8%) patients. BRAF fusions, ETV5-DGKG translocations and NTRK3 fusions were detected in 9.5%, 4.4% and 2.4% of the cases, respectively. NGS revealed a novel BRAF::PID1 gene fusion in a sample diagnosed with pilocytic astrocytoma. Eleven patients (26.2%) have received targeted therapy based on their molecular profile. Trametinib, dasatinib and cabozantinib were the most commonly used agents. Partial remission or stable disease has been observed in patients receiving targeted therapies for at least 6 months.

In our study, routine application of the Illumina TruSight Oncology 500 CGP approach led to the identification of targetable alterations in 69.0% of the patients with 26.2% of the patients receiving targeted therapy.

Supported by the EKÖP-2024-76 New National Excellence Program of the Ministry for Culture and Innovation from the source of the National Research, Development and Innovation Fund.

University

Semmelweis University

Supervisor

NA

Publication of my abstract

I do not give consent to the publication of my abstract on the website of the congress.

phd.section.field

after finishing doctoral studies with absolutorium (PhD)

Kind

Szabad

Status

elfogadva

Accepted presentation method

poszter

Előadás fájl jóváhagyás

nem rendelkezett róla

Előadó

4694

Start

16:42

End

16:48