Corsini Erin M, Wang Jinliang, Wu Chia-Chin, Fujimoto Junya, Negrao Marcelo V, Chen Runzhe, Quek Kelly, Mitchell Kyle G, Chow Chi-Wan B, Little Latasha, Gumbs Curtis, Song Xingzhi, Behrens Carmen, Correa Arlene M, Antonoff Mara B, Swisher Stephen G, Heymach John V, Zhang Jianhua, Wistuba Ignacio I, Futreal P Andrew, Sepesi Boris, Zhang Jianjun
Department of Thoracic and Cardiovascular Surgery, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
Department of Thoracic/Head & Neck Medical Oncology, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.
J Thorac Dis. 2020 May;12(5):1952-1959. doi: 10.21037/jtd-20-1.
Multiple synchronous lung tumors (MSLT), particularly within a single lobe, represent a diagnostic and treatment challenge. While histologic assessment was once the only method to possibly distinguish multiple primary lung cancers, there is a growing interest in identifying unique genomic features or mutations to best characterize these processes.
In order to differentiate multiple primary lung malignancies from intrapulmonary metastases in patients with MSLT, we performed whole exome sequencing (WES) on 10 tumor samples from 4 patients with MSLT.
Shared mutations between tumors from the same patient varied from 0-91%. Patient 3 shared no common mutations; however, in Patients 2 and 4, identical mutations were identified among all tumors from each patient, suggesting that the three tumors identified in Patient 3 represent separate primary lung cancers, while those of Patients 1, 2 and 4 signify hematogenous and lymphatic spread.
A high proportion of shared mutations between different lung tumors is likely indicative of intrapulmonary metastatic disease, while tumors with distinct genomic profiles likely represent multiple primary malignancies driven by distinct molecular events. Application of genomic profiling in the clinical setting may prove to be important to precise management of patients with MSLT.
多发性同步性肺肿瘤（MSLT），尤其是单叶内的肿瘤，是诊断和治疗方面的挑战。虽然组织学评估曾是区分多个原发性肺癌的唯一方法，但现在人们越来越关注识别独特的基因组特征或突变，以最好地描述这些过程。
为了区分MSLT患者的多个原发性肺恶性肿瘤和肺内转移瘤，我们对4例MSLT患者的10个肿瘤样本进行了全外显子组测序（WES）。
同一患者肿瘤之间的共享突变率在0%-91%之间。患者3没有共享的共同突变；然而，在患者2和4中，每个患者的所有肿瘤中都发现了相同的突变，这表明患者3中鉴定出的三个肿瘤代表不同的原发性肺癌，而患者1、2和4的肿瘤则表明是血行和淋巴转移。
不同肺肿瘤之间高比例的共享突变可能表明是肺内转移性疾病，而具有不同基因组图谱的肿瘤可能代表由不同分子事件驱动的多个原发性恶性肿瘤。在临床环境中应用基因组分析可能对MSLT患者的精确管理很重要。
