Lutfi Areeb, Afghan Maaz K, Kasi Pashtoon M
Oncology, Weill Cornell Medicine, New York, USA.
Cureus. 2023 Aug 12;15(8):e43391. doi: 10.7759/cureus.43391. eCollection 2023 Aug.
Exonuclease domain mutation (EDM) in polymerase epsilon ()-mutated colorectal cancer patients is characterized by specific clinical features and a very high tumor mutation burden (TMB). The therapeutic effectiveness of immune checkpoint inhibitors (ICIs) for the treatment of colorectal cancer in patients with mutations is poorly defined. Our case represents a young-onset colon cancer patient who has had a continued response to programmed cell death protein 1 (PD1) blockade alongside clearance of circulating tumor DNA (ctDNA) using a tumor-informed approach. Utilizing ctDNA kinetics to assess minimal residual disease (MRD) in the context of colorectal cancer is a very important topic. Furthermore, utilizing ctDNA kinetics in response to immunotherapy is something that is relevant to all tumor types undergoing immunotherapy. Recently, several landmark articles have proposed this as a promising approach. There is, however, limited information in the literature showing the feasibility of such an approach. Our case report is going to be of value, both from a scientific as well as a clinical standpoint. This is particularly relevant given the rise of colorectal cancers in young individuals.
聚合酶ε（Polε）突变的结直肠癌患者中的核酸外切酶结构域突变（EDM）具有特定的临床特征和非常高的肿瘤突变负担（TMB）。免疫检查点抑制剂（ICI）对Polε突变患者治疗结直肠癌的疗效尚不明确。我们的病例是一名年轻的结肠癌患者，他对程序性细胞死亡蛋白1（PD1）阻断持续有反应，同时采用肿瘤知情方法清除了循环肿瘤DNA（ctDNA）。利用ctDNA动力学评估结直肠癌背景下的微小残留病（MRD）是一个非常重要的课题。此外，利用ctDNA动力学来评估免疫治疗反应与所有接受免疫治疗的肿瘤类型都相关。最近，几篇具有里程碑意义的文章提出这是一种有前景的方法。然而，文献中显示这种方法可行性的信息有限。我们的病例报告从科学和临床角度来看都将具有价值。鉴于年轻个体中结直肠癌的发病率上升，这一点尤为重要。
