Schulze Markus, Wang XiaoZhe, Hamad Jawad, Quintanilha Julia C F, Pasquina Lincoln W, Hopkins Julia F, Scheuenpflug Juergen, Feng Zheng
Clinical Measurement Sciences, Global Research & Development, Merck KGaA, Darmstadt, Germany.
Clinical Measurement Sciences, Global Research & Development, EMD Serono, Billerica, MA, USA.
FEBS Open Bio. 2025 Apr;15(4):674-685. doi: 10.1002/2211-5463.13957. Epub 2025 Jan 26.
MAPK signaling activation is an important driver event in colorectal cancer (CRC) tumorigenesis that informs therapy selection, but detection by liquid biopsy can be challenging. We analyze real-world comprehensive genomic profiling (CGP) data to explore the landscape of alterations in BRAF or RAS in CRC patients (N = 51 982) and co-occurrence with other biomarkers. A pathogenic RAS or BRAF alteration was found in 63.2% and 57.9% of colon and rectal cancer samples, respectively. In a subset of 140 patients with both tissue- and liquid-based CGP, the sensitivity of liquid for results found by tissue was 100% when ctDNA tumor fraction was at least 1%, illustrating the utility of tissue and liquid biopsy in detecting driver alterations in CRC.
丝裂原活化蛋白激酶（MAPK）信号激活是结直肠癌（CRC）肿瘤发生中的一个重要驱动事件，可为治疗选择提供依据，但通过液体活检进行检测可能具有挑战性。我们分析了真实世界的综合基因组分析（CGP）数据，以探索CRC患者（N = 51982）中BRAF或RAS的改变情况以及与其他生物标志物的共现情况。在结肠癌和直肠癌样本中，分别有63.2%和57.9%发现了致病性RAS或BRAF改变。在140例同时进行了组织和液体CGP检测的患者亚组中，当循环肿瘤DNA（ctDNA）肿瘤分数至少为1%时，液体活检对于组织检测结果的敏感性为100%，这说明了组织活检和液体活检在检测CRC驱动改变方面的实用性。
