Optimized precision oncology through implementation of a comprehensive molecular analysis pipeline – relevance for additional therapeutic options

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BACKGROUND AND PURPOSE: Personalized medicine is guided by an expanding array of molecular targets. This study investigates whether larger next-generation sequencing (NGS) gene panels (> 1 Mb) yield more clinically relevant therapy options in molecular tumor boards (MTB) compared to smaller panels. PATIENTS AND METHODS: We analyzed 281 consecutive patients using a 430-gene DNA panel (1.3 Mb) combined with a RNA-fusion panel and compared the findings to a 185-gene DNA panel (618 kb). RESULTS: Molecular alterations were detected in 97.2 % of tumors with either oncogenic variants and/or gene fusions. Among these, 170 (60.5 %) received a molecular-stratified therapy recommendation from the local MTB. Only 8.8 % depended on the expanded 430-gene DNA panel, and additionally identified actionable variants in five additional genes. High TMB alone enabled 4.1 % of MTB recommendations. CONCLUSION: Our findings indicate that sufficient genomic coverage in DNA panels is essential for reliable TMB calculation, defining a minimal standard for genomic cancer care.

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