Peritoneal carcinomatosis (PC) represents a challenge in the management of metastatic colorectal cancer (mCRC) because of the difficulties in diagnosis, tumor burden assessment, and in selecting the optimal treatments. A critical limitation is the lack of robust prognostic and predictive biomarkers, largely relying on serum markers (e.g., carcinoembryonic antigen) or the peritoneal carcinomatosis index (PCI) for disease extent. Circulating tumor DNA (ctDNA)—genomic fragments shed by tumor cells into the bloodstream—is now recommended by international guidelines for mCRC management. Its potential extends to PC, where it may enhance diagnostic, therapeutic, and follow-up strategies. However, PC from CRC (PC-CRC) is associated with lower ctDNA levels and detection rates compared to other metastatic sites, posing a challenge for its clinical utility. To address these limitations, peritoneal fluid analysis has emerged as a promising alternative, with peritoneal tumor DNA (ptDNA) detected at higher concentrations in this anatomical space. Integrating ctDNA and ptDNA may offer a deeper understanding of PC-CRC biology and provide more precise tools for managing this complex disease. This approach has the potential to revolutionize the treatment paradigm for PC-CRC, bringing precision medicine even to this subgroup of patients traditionally associated with poor outcomes. This review aims to evaluate the diagnostic, prognostic, and therapeutic implications of ctDNA and ptDNA in PC-CRC, highlighting current limitations and future directions.
腹膜癌病（PC）在转移性结直肠癌（mCRC）的治疗中构成挑战，主要源于诊断困难、肿瘤负荷评估复杂以及最佳治疗方案选择不易。当前关键局限在于缺乏可靠的预后和预测生物标志物，主要依赖血清标志物（如癌胚抗原）或腹膜癌病指数（PCI）评估疾病范围。循环肿瘤DNA（ctDNA）——肿瘤细胞释放到血液中的基因组片段——现已被国际指南推荐用于mCRC管理。其在PC领域亦具潜力，可能提升诊断、治疗及随访策略。然而，与其他转移部位相比，结直肠癌来源的PC（PC-CRC）伴随较低的ctDNA水平和检出率，这对其临床应用提出了挑战。为突破这些限制，腹腔积液分析已成为一种前景广阔的替代方案，在该解剖空间中检测到的腹膜肿瘤DNA（ptDNA）浓度更高。整合ctDNA与ptDNA可能深化对PC-CRC生物学特性的理解，并为管理这一复杂疾病提供更精准的工具。该方法有望革新PC-CRC的治疗模式，将精准医疗理念延伸至这一传统上预后不良的患者亚群。本文旨在系统评估ctDNA与ptDNA在PC-CRC中的诊断、预后及治疗意义，重点探讨当前局限性与未来发展方向。
肿瘤(癌症)患者之家