Qu Yan-Jun, Zhang Qian-Shi, Wang Bo, Zhang Feng, Pan Evenki, Zhao Chun-Yan, Liu Si-Ye, Fang Li-Ping
Department of Medical Oncology, The Second Hospital of Dalian Medical University, Dalian 116023, Liaoning Province, China.
Department of Gastrointestinal Surgery, The Second Hospital of Dalian Medical University, Dalian 116023, Liaoning Province, China.
World J Gastrointest Oncol. 2023 Oct 15;15(10):1823-1828. doi: 10.4251/wjgo.v15.i10.1823.
Multiple primary colorectal carcinoma (MPCC) is a rare clinical disease, which is challenging to differentiate from metastatic disease using histopathological methods. Next-generation sequencing (NGS) has been employed to identify multiple primary cancers.
This study a rare case of a 63-year-old male patient diagnosed with MPCC by targeted NGS, which was initially missed by radiological evaluation. The patient was found to have two tumors located on the surface of the colorectum which had distinct genomic alterations. Based on wild-type detected in the unresected tumor, the patient benefited from the epidermal growth factor receptor (EGFR) inhibitor cetuximab treatment, but developed novel mutations including fusion, which provides a possible resistance mechanism to anti-EGFR therapy.
Our case highlights the necessity of using genetic testing for primary tumor diagnosis and the application of serial plasma circulating tumor DNA profiling for dynamic disease monitoring.
多原发性结直肠癌（MPCC）是一种罕见的临床疾病，使用组织病理学方法将其与转移性疾病区分开来具有挑战性。下一代测序（NGS）已被用于识别多原发性癌症。
本研究报告了一例罕见的63岁男性患者，通过靶向NGS诊断为MPCC，最初的影像学评估未发现该病例。该患者被发现有两个位于结直肠表面的肿瘤，它们具有不同的基因组改变。基于未切除肿瘤中检测到的野生型，患者从表皮生长因子受体（EGFR）抑制剂西妥昔单抗治疗中获益，但出现了包括融合在内的新突变，这为抗EGFR治疗提供了一种可能的耐药机制。
我们的病例强调了使用基因检测进行原发性肿瘤诊断的必要性，以及应用系列血浆循环肿瘤DNA分析进行动态疾病监测的重要性。
