Department of Cancer Biomedical Science, National Cancer Center Graduate School of Cancer Science and Policy, Goyang, Korea.
Molecular Imaging Branch, Division of Convergence Technology, Research Institute of National Cancer Center, Goyang, Korea.
Cancer Sci. 2024 Apr;115(4):1283-1295. doi: 10.1111/cas.16104. Epub 2024 Feb 13.
Kirsten rat sarcoma viral oncogene homolog (KRAS) mutations in circulating tumor deoxyribonucleic acid (ctDNA) have been reported as representative noninvasive prognostic markers for pancreatic ductal adenocarcinoma (PDAC). Here, we aimed to evaluate single KRAS mutations as prognostic and predictive biomarkers, with an emphasis on potential therapeutic approaches to PDAC. A total of 128 patients were analyzed for multiple or single KRAS mutations (G12A, G12C, G12D, G12R, G12S, G12V, and G13D) in their tumors and plasma using droplet digital polymerase chain reaction (ddPCR). Overall, KRAS mutations were detected by multiplex ddPCR in 119 (93%) of tumor DNA and 68 (53.1%) of ctDNA, with a concordance rate of 80% between plasma ctDNA and tumor DNA in the metastatic stage, which was higher than the 44% in the resectable stage. Moreover, the prognostic prediction of both overall survival (OS) and progression-free survival (PFS) was more relevant using plasma ctDNA than tumor DNA. Further, we evaluated the selective tumor-suppressive efficacy of the KRAS G12C inhibitor sotorasib in a patient-derived organoid (PDO) from a KRAS G12C-mutated patient using a patient-derived xenograft (PDX) model. Sotorasib showed selective inhibition in vitro and in vivo with altered tumor microenvironment, including fibroblasts and macrophages. Collectively, screening for KRAS single mutations in plasma ctDNA and the use of preclinical models of PDO and PDX with genetic mutations would impact precision medicine in the context of PDAC.
循环肿瘤脱氧核糖核酸 (ctDNA) 中的 Kirsten 大鼠肉瘤病毒致癌基因同源物 (KRAS) 突变已被报道为胰腺导管腺癌 (PDAC) 的代表性非侵入性预后标志物。在这里,我们旨在评估单个 KRAS 突变作为预后和预测生物标志物,重点是针对 PDAC 的潜在治疗方法。总共分析了 128 名患者的肿瘤和血浆中的多个或单个 KRAS 突变 (G12A、G12C、G12D、G12R、G12S、G12V 和 G13D),使用液滴数字聚合酶链反应 (ddPCR)。总体而言,多重 ddPCR 在 119 个 (93%)肿瘤 DNA 和 68 个 (53.1%) ctDNA 中检测到 KRAS 突变,在转移性阶段血浆 ctDNA 与肿瘤 DNA 的一致性率为 80%,高于可切除阶段的 44%。此外,使用血浆 ctDNA 进行的总生存期 (OS) 和无进展生存期 (PFS) 的预后预测更为相关。此外,我们使用源自 KRAS G12C 突变患者的患者衍生异种移植 (PDX) 模型评估了 KRAS G12C 抑制剂索托拉西布对源自 KRAS G12C 突变患者的患者衍生类器官 (PDO) 的选择性肿瘤抑制作用。索托拉西布在体外和体内均表现出选择性抑制作用,同时改变了肿瘤微环境,包括成纤维细胞和巨噬细胞。总的来说,在 PDAC 背景下,筛选血浆 ctDNA 中的 KRAS 单突变以及使用具有遗传突变的 PDO 和 PDX 的临床前模型将影响精准医学。