Kim Ju Seok, Bae Go Eun, Kim Seok-Hwan, Choi Min Kyung, Yeo Min-Kyung
Department of Internal Medicine, Chungnam National University School of Medicine, Daejeon, South Korea.
Department of Pathology, Chungnam National University School of Medicine, Daejeon, South Korea.
Front Oncol. 2021 Jan 11;10:604772. doi: 10.3389/fonc.2020.604772. eCollection 2020.
Cell-free DNA (cfDNA) has arisen as an alternative target for evaluating somatic mutations in cancer. KRAS mutation status is critical for targeted therapy in colorectal adenocarcinoma (CRAC). We evaluated KRAS mutations in cfDNA extracted from serum and compared the results with KRAS mutations detected in tissue samples. We assessed the clinical significance of KRAS mutation in serum in regard to recurrence and metastasis of CRAC.
A total of 146 CRAC patients were enrolled, and KRAS mutations were evaluated in 146 pairs of serum and tissue samples. In addition, 35 pairs of primary and metastatic CRAC tissue samples were evaluated for KRAS mutational status.
Detection of KRAS mutation from serum and tissue had a 55% concordance rate, and serum detection had a sensitivity of 39.8%. Detection of the KRAS mutation yielded a 14% discordance rate between primary and metastatic tissue. CRAC patients with mutant KRAS mutation in serum but wild-type KRAS in tissue had concurrent KRAS-mutant metastatic tumors, indicating spatial genetic heterogeneity. Changes in serum KRAS mutation status during postoperative follow-up were associated with recurrence. Conclusion: Although serum detection of the KRAS mutation cannot substitute for detection in tissue, serum testing can support the interpretation of a CRAC patient's status in regard to concurrent metastasis. Dynamic changes in serum KRAS mutation status during follow-up indicated that cfDNA from serum represents a potential source for monitoring recurrence in CRAC patients.
游离DNA（cfDNA）已成为评估癌症体细胞突变的替代靶点。KRAS突变状态对结直肠癌（CRAC）的靶向治疗至关重要。我们评估了从血清中提取的cfDNA中的KRAS突变，并将结果与组织样本中检测到的KRAS突变进行比较。我们评估了血清中KRAS突变对CRAC复发和转移的临床意义。
共纳入146例CRAC患者，对146对血清和组织样本进行KRAS突变评估。此外，对35对原发性和转移性CRAC组织样本进行KRAS突变状态评估。
血清和组织中KRAS突变的检测一致率为55%，血清检测的灵敏度为39.8%。KRAS突变检测在原发性和转移性组织之间产生了14%的不一致率。血清中KRAS突变但组织中KRAS野生型的CRAC患者同时存在KRAS突变的转移瘤，表明存在空间遗传异质性。术后随访期间血清KRAS突变状态的变化与复发相关。结论：虽然血清中KRAS突变的检测不能替代组织检测，但血清检测可以辅助解释CRAC患者并发转移的状态。随访期间血清KRAS突变状态的动态变化表明，血清cfDNA是监测CRAC患者复发的潜在来源。
