同一患者中两种不同的原发性egfr突变肺腺癌:1例报告

Junid A. Naveed Ahmad, Bowen He, B. Schroeder, J. Rosales
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摘要

肺癌仍然是世界范围内癌症相关死亡的最常见原因,非小细胞肺癌(NSCLC)是主要的组织学亚型。越来越多的分子突变被发现并用作治疗靶点。我们描述了一位被诊断为局部转移性非小细胞肺癌的女性病例,她有明显的肺肿块,后来根据分子谱分析确定为两个独立的原发性肺肿瘤。女,58岁,咳嗽咯血。胸部CT示右肺尖4.3cm肿块,右肺下叶2.0 cm结节,右侧气管旁/肺门腺病变。随后的正电子发射断层扫描-计算机断层扫描(PET-CT)显示右上叶(RUL) (SUV 12.2)和RLL(标准摄取值(SUV) 2.5)肿块和纵隔淋巴结摄取,但未见远处转移。支气管镜下RUL肿块和4R淋巴结活检呈低分化腺癌阳性,分子分析显示表皮生长因子受体(EGFR) L858R突变。随后对RLL病变的电磁导航(EMN)活检也显示腺癌,但EGFR外显子19缺失。T790M突变均为阴性。因此,她被诊断为两个独立的原发灶而不是胸内转移灶。她开始使用厄洛替尼,4个月后,重复PET-CT显示RLL完全缓解(CR)和RUL部分缓解(PR)。我们决定进行RUL/RLL胆管切除术。病理表现为N2型病变;因此,在手术时,她是IIIA期,可能来自RUL肿块。RLL肿块推定为i期。这些肿块被成功切除,术后认为无疾病迹象(NED)。虽然在多达12%的患者中报道了同一肿瘤内的共突变28,但我们还没有发现其他病例,其中一个患者根据基因谱被诊断为两个单独的原发性肺肿瘤。因此,她能够得到治疗,而不是姑息治疗的意图。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Two Distinct Primary EGFR-Mutated Lung Adenocarcinoma Within the Same Patient: A Case Report
Lung cancer remains the most common cause of cancer-related deaths worldwide, with Non-Small Cell Lung Cancer (NSCLC) the predominant histologic subtype. Increasingly, molecular mutations are identified and used as therapeutic targets. We describe the case of a woman diagnosed with locally metastatic NSCLC, and distinct pulmonary masses, later identified as two independent primary lung tumors based on molecular profiling. A 58-year-old-female presented with cough and hemoptysis. Chest Computed Tomography (CT) revealed a 4.3cm mass in the right lung apex, 2.0 cm nodule in the right lower lobe (RLL), and right paratracheal/hilar adenopathy. Subsequent Positron Emission Tomography-Computed Tomography (PET-CT) showed uptake in the right upper lobe (RUL) (SUV 12.2) and RLL (standard uptake value (SUV) 2.5) masses and mediastinal lymph nodes, but no distant metastases. Bronchoscopic biopsy of the RUL mass and 4R lymph node were positive for poorly differentiated adenocarcinoma, and molecular analysis revealed Epidermal Growth Factor Receptor (EGFR) L858R mutation. Subsequent Electromagnetic Navigation (EMN) biopsy of the RLL lesion also showed adenocarcinoma, but with an EGFR exon-19 deletion. Both were negative for T790M mutation. She was therefore diagnosed with two separate primaries instead of intrathoracic metastases. She started erlotinib and after 4 months, repeat PET-CT showed complete response (CR) in the RLL and partial response (PR) in the RUL. Decision was made to pursue surgery with RUL/RLL bilobectomy. Pathology showed evidence of N2 disease; therefore, at time of surgery she was stage IIIA, presumably from the RUL mass. The RLL mass was presumed to be stage I. These were successfully resected, and she was deemed to have no evidence of disease (NED) post-operatively. Although co-mutations within the same tumor have been reported in up to 12% of patients,28 we are not aware of other cases in which a single patient was diagnosed with two separate primary lung tumors based on genetic profiles. Consequently, she was able to be treated with curative rather than palliative intent.
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