一例基因检测指导下多学科管理的异时性 三原发恶性肿瘤：病例报告

Metachronous Triple Primary Malignancies Managed by an NGS-Guided Multidisciplinary Approach: A Case Report

摘要: 目的：尽管多发原发恶性肿瘤的发病率逐年上升，但三原发恶性肿瘤仍极为罕见，且尚缺乏标准化的管理策略。本文通过分析1例三原发恶性肿瘤患者的临床诊疗过程，探讨下一代测序技术和多学科讨论在多原发恶性肿瘤个体化管理中的应用价值。诊疗过程：患者为72岁男性，因肺癌接受手术切除。2年后，同时确诊为胃癌、直肠癌并伴双肺转移。在下一代测序及多次多学科讨论的指导下，患者接受了4个周期的新辅助化疗联合靶向治疗，后续行根治性手术及术后辅助化疗联合靶向治疗。目前，双肺转移灶正通过持续靶向治疗进行管理。结果：患者目前总体状况良好，生活质量较高。随访期间未见胃癌或直肠癌复发或转移，双肺转移灶呈持续部分缓解状态。总结：多原发恶性肿瘤的管理复杂且具有高度个体化特征。基于下一代测序指导的多学科讨论决策模式有助于为此类患者制定精准的个体化治疗策略，从而改善患者的临床预后和生活质量。

Abstract: Objective: Although the incidence of multiple primary malignancies is increasing, triple primary malignancies remain extremely rare, and standardized management strategies are still lacking. This study aimed to explore the clinical value of next-generation sequencing and multidisciplinary team discussions in the individualized management of multiple primary malignancies through analysis of the diagnostic and therapeutic course of a patient with triple primary malignancies. Diagnoses and interventions: A 72-year-old male patient initially underwent surgical resection for lung cancer. Two years later, he was simultaneously diagnosed with gastric cancer and rectal cancer accompanied by bilateral pulmonary metastases. Guided by next-generation sequencing and multiple multidisciplinary team discussions, the patient received four cycles of neoadjuvant chemotherapy combined with targeted therapy, followed by radical surgical resection and postoperative adjuvant chemotherapy plus targeted therapy. At present, the bilateral pulmonary metastatic lesions are being managed with continuous targeted therapy. Outcomes: The patient currently maintains a good general condition with a satisfactory quality of life. During follow-up, no recurrence or metastasis of gastric or rectal cancer was observed, and the bilateral pulmonary metastases have demonstrated sustained partial remission. Conclusion: The management of multiple primary malignancies is complex and highly individualized. Multidisciplinary team guided by next-generation sequencing can be instrumental in formulating optimal, personalized treatment strategies for such patients, which may contribute to improved clinical outcomes and quality of life.