Department of Oncology, First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China.
Department of Pathology, Sichuan Clinical Research Center for Cancer, Sichuan Cancer Hospital & Institute, Sichuan Cancer Center, Affiliated Cancer Hospital of University of Electronic Science and Technology of China, Chengdu, China.
Medicine (Baltimore). 2024 Nov 29;103(48):e40699. doi: 10.1097/MD.0000000000040699.
Multiple primary cancer is common in clinical practice, but its diagnosis process is complicated, and relevant genetic testing is required to assist in diagnosis when necessary. The formulation of treatment strategies for multiple primary cancer is a highly personalized process. In this article, we introduce a case of a patient with rectal cancer and gastric cancer who was diagnosed with multiple primary cancers, to investigate and explore the clinical application value of next-generation sequencing (NGS) testing in patients with multiple primary gastric and colorectal cancers.
A 74-year-old male patient had a mass at the anal verge.
Endoscopy, imaging studies, and pathological examinations showed adenocarcinoma in both the rectal and gastric antral regions. Genetic testing confirmed the diagnosis of multiple primary cancer.
The patient received 8 cycles of neoadjuvant chemotherapy combined with immunotherapy and underwent laparoscopic radical resection for rectal cancer. Postoperative adjuvant chemotherapy (XELOX) supplemented with PD-1 immunotherapy, and Camrelizumab was continued.
Gastric lesions continued to regress and eventually disappeared completely at the end of adjuvant therapy.
According to the results of NGS testing, the multiple primary cancers' patient received personalized treatment and ultimately achieved clinical complete remission. This case highlights the critical role of genetic testing in accurately identifying multiple primary cancer and the value of personalized guidance for patient treatment using NGS in clinical practice.
在临床实践中，同时患有多种原发性癌症较为常见，但诊断过程较为复杂，必要时需要相关的基因检测来协助诊断。制定多种原发性癌症的治疗策略是一个高度个性化的过程。本文介绍了 1 例直肠和胃同时患有癌症的患者，以探讨和研究下一代测序（NGS）检测在同时患有胃和结直肠多种原发性癌症患者中的临床应用价值。
1 名 74 岁男性患者肛门有肿块。
内镜、影像学检查和病理检查均显示直肠和胃窦部均为腺癌。基因检测证实为同时患有多种原发性癌症。
患者接受了 8 个周期的新辅助化疗联合免疫治疗，并接受了腹腔镜直肠癌根治术。术后辅助化疗（XELOX）联合 PD-1 免疫治疗，继续使用卡瑞利珠单抗。
胃的病变持续消退，最终在辅助治疗结束时完全消失。
根据 NGS 检测结果，该患者接受了个性化治疗，最终达到了临床完全缓解。该病例强调了基因检测在准确识别同时患有多种原发性癌症中的关键作用，以及 NGS 在临床实践中为患者治疗提供个性化指导的价值。
