Lv Huiyun, Tian Aijuan, Zhao Shanshan, Zhao Jinbo, Song Chen
Department of Oncology, The Second Hospital of Dalian Medical University, Dalian, China.
Department of Nuclear Medicine, The Second Hospital of Dalian Medical University, Dalian, China.
Front Oncol. 2023 Jul 24;13:1204041. doi: 10.3389/fonc.2023.1204041. eCollection 2023.
Multiple primary malignant neoplasms (MPMNs) are difficult to identify from the metastasis or recurrence of malignant tumors. Additionally, the genetic mutations in each primary tumor vary from each other; therefore, it is critical to explore potential abnormal genes. Next-generation sequencing (NGS) technology has emerged as a reliable approach for detecting mutated genes in primary tumors and can provide several targeted therapeutic options for patients with MPMNs. Here, we report a case of metachronous multiple primary malignant neoplasm (MMPMN) patient with primary ovarian and breast cancer. Targeted NGS genetic profiling revealed a rare EGFR T790M mutation in this patient's primary breast tumor tissue, which has only been reported previously in breast cancer (BC). Based on the NGS results, osimertinib was recommended for this patient. Although this patient did not receive osimertinib because of gastrointestinal hemorrhage, this case highlights the significance of NGS technology in the diagnosis and treatment of MPMNs.
多发性原发性恶性肿瘤（MPMNs）很难与恶性肿瘤的转移或复发相鉴别。此外，每个原发性肿瘤中的基因突变彼此不同；因此，探索潜在的异常基因至关重要。新一代测序（NGS）技术已成为检测原发性肿瘤中突变基因的可靠方法，并且可以为MPMNs患者提供多种靶向治疗选择。在此，我们报告一例异时性多发性原发性恶性肿瘤（MMPMN）患者，其患有原发性卵巢癌和乳腺癌。靶向NGS基因分析显示，该患者原发性乳腺肿瘤组织中存在一种罕见的EGFR T790M突变，此前仅在乳腺癌（BC）中报道过。基于NGS结果，建议该患者使用奥希替尼。尽管该患者因胃肠道出血未接受奥希替尼治疗，但该病例突出了NGS技术在MPMNs诊断和治疗中的重要性。
