Vanni Irene, Coco Simona, Bonfiglio Silvia, Cittaro Davide, Genova Carlo, Biello Federica, Mora Marco, Rossella Valeria, Dal Bello Maria Giovanna, Truini Anna, Banelli Barbara, Lazarevic Dejan, Alama Angela, Rijavec Erika, Barletta Giulia, Grossi Francesco
Lung Cancer Unit, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genova Centre for Translational Genomics and Bioinformatics, IRCCS San Raffaele Scientific Institute, Milan Department of Internal Medicine and Medical Specialties (DIMI), Università di Genova IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genova Department of Pathology, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro, Genova Laboratory of Tumor Epigenetics, IRCCS AOU San Martino - IST Istituto Nazionale per la Ricerca sul Cancro and Department of Health Sciences, Università di Genova, Genova, Italy.
Medicine (Baltimore). 2016 Nov;95(48):e5447. doi: 10.1097/MD.0000000000005447.
The presence of multiple primary tumors (MPT) in a single patient has been identified with an increasing frequency. A critical issue is to establish if the second tumor represents an independent primary cancer or a metastasis. Therefore, the assessment of MPT clonal origin might help understand the disease behavior and improve the management/prognosis of the patient.Herein, we report a 73-year-old male smoker who developed 2 primary lung cancers (adenocarcinoma and squamous cell carcinoma) and a malignant peritoneal mesothelioma (PM).Whole exome sequencing (WES) of the 3 tumors and of germline DNA was performed to determine the clonal origin and identify genetic cancer susceptibility.Both lung cancers were characterized by a high mutational rate with distinct mutational profiles and activation of tumor-specific pathways. Conversely, the PM harbored a relative low number of genetic variants and a novel mutation in the WT1 gene that might be involved in the carcinogenesis of nonasbestos-related mesothelioma. Finally, WES of the germinal DNA displayed several single nucleotide polymorphisms in DNA repair genes likely conferring higher cancer susceptibility.Overall, WES did not disclose any somatic genetic variant shared across the 3 tumors, suggesting their clonal independency; however, the carcinogenic effect of smoke combined with a deficiency in DNA repair genes and the patient advanced age might have been responsible for the MPT development. This case highlights the WES importance to define the clonal origin of MPT and susceptibility to cancer.
在单一患者中发现多原发性肿瘤(MPT)的频率越来越高。一个关键问题是确定第二个肿瘤是代表独立的原发性癌症还是转移瘤。因此,评估MPT的克隆起源可能有助于了解疾病行为并改善患者的管理/预后。在此,我们报告一名73岁的男性吸烟者,他患了2种原发性肺癌(腺癌和鳞状细胞癌)以及1例恶性腹膜间皮瘤(PM)。对这3种肿瘤以及生殖系DNA进行了全外显子组测序(WES),以确定克隆起源并识别遗传性癌症易感性。两种肺癌均具有高突变率,具有不同的突变谱和肿瘤特异性途径的激活。相反,PM具有相对较少的基因变异数量以及WT1基因中的一个新突变,该突变可能与非石棉相关间皮瘤的致癌作用有关。最后,生殖系DNA的WES显示DNA修复基因中存在几个单核苷酸多态性,可能赋予更高的癌症易感性。总体而言,WES未揭示这3种肿瘤共有的任何体细胞遗传变异,表明它们的克隆独立性;然而,吸烟的致癌作用与DNA修复基因缺陷以及患者的高龄可能是MPT发生的原因。这个案例突出了WES在确定MPT的克隆起源和癌症易感性方面的重要性。