[First results of comprehensive genomic studies on solid tumours in National Institute of Oncology].

Magyar onkologia Pub Date : 2025-03-21 Epub Date: 2025-03-03

Erika Tóth, Erzsébet Csernák, Andrea Kohánka, László Báthory-Fülöp, Henriett Butz, Attila Patócs, Tamás Pintér, Zsolt Horváth, Zsófia Küronya, Tamás Strausz, Imola Adamik, Zsombor Melegh

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Abstract

Aims: The Molecular Pathology Laboratory of the National Institute of Oncology has been performing comprehensive genomic studies (500-gene panel) since 2021. This paper summarizes our results obtained between 2022 and 2024, focusing on clinical requests, the histological type of cases studied and the potential therapeutic benefit of identified variants.

Methods: Comprehensive genomic profiling was performed using next generation sequencing on an Ion S5 Plus system (Thermo Fisher Scientific) with Oncomine Comprehensive Assay Plus kit. DNA and RNA were extracted from formalin- fixed, paraffin-embedded samples.

Results: 402 analyses were performed. We identified mutations with therapeutic significance in 37.3% (150/402) of cases, including 26.4% (106/402) of cases with on label therapies. The most frequently investigated cases were soft tissue sarcomas and gynaecological tumours.

Conclusions: Genetic alterations with therapeutic relevance primarily include high TMB and high GIS. Previously unknown mutations suitable for targeted therapy were rarely identified, as almost all cases had previously undergone small targeted panel testing.

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[国家肿瘤研究所实体肿瘤综合基因组研究的首个结果]。

目的：国家肿瘤研究所分子病理学实验室从2021年开始进行全面的基因组研究（500个基因面板）。本文总结了我们在2022年至2024年期间获得的结果，重点关注临床需求，所研究病例的组织学类型以及已确定变异的潜在治疗益处。方法：在Ion S5 Plus系统（Thermo Fisher Scientific）上使用Oncomine Comprehensive Assay Plus试剂盒进行下一代测序，进行全面的基因组图谱分析。从福尔马林固定、石蜡包埋的样品中提取DNA和RNA。结果：共进行402次分析。我们在37.3%（150/402）的病例中发现了具有治疗意义的突变，其中包括26.4%（106/402）的标签治疗病例。最常见的病例是软组织肉瘤和妇科肿瘤。结论：与治疗相关的基因改变主要包括高TMB和高GIS。以前未知的适合靶向治疗的突变很少被发现，因为几乎所有病例以前都进行过小的靶向小组检测。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Magyar onkologia

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