美国德克萨斯大学MD安德森癌症中心Nizar M. Tannir、Giannicola Genovese、Pavlos Msaouel、贝勒医学院Cheryl L. Walker等研究人员，合作发现了肾髓样癌（RMC）的独特基因组和免疫标志。相关论文于2020年4月30日在线发表在《癌细胞》杂志上。

研究人员对未经治疗的原始RMC组织进行了全面基因组和转录组分析，以阐明这些肿瘤的分子图谱。研究人员发现RMC的特征是高复制压力和大量与cGAS-STING相关的局灶拷贝数变化。复制压力赋予了靶向DNA损伤修复途径的药物治疗脆弱性。对这些未知RMC标志的了解为这种罕见但致命的恶性肿瘤的临床试验铺平了道路。

肾髓样癌（RMC）是一种高度致死性的恶性肿瘤，主要侵害非洲血统的年轻人，并且对用于治疗其他肾细胞癌的所有靶向药物均具有抵抗力。

附：英文原文

Title: Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma

Author: Pavlos Msaouel, Gabriel G. Malouf, Xiaoping Su, Hui Yao, Durga N. Tripathi, Melinda Soeung, Jianjun Gao, Priya Rao, Cristian Coarfa, Chad J. Creighton, Jean-Philippe Bertocchio, Selvi Kunnimalaiyaan, Asha S. Multani, Jorge Blando, Rong He, Daniel D. Shapiro, Luigi Perelli, Sanjana Srinivasan, Federica Carbone, Patrick G. Pilié, Menuka Karki, Riyad N.H. Seervai, Bujamin H. Vokshi, Dolores Lopez-Terrada, Emily H. Cheng, Ximing Tang, Wei Lu, Ignacio I. Wistuba, Timothy C. Thompson, Irwin Davidson, Virginia Giuliani, Katharina Schlacher, Alessandro Carugo, Timothy P. Heffernan, Padmanee Sharma, Jose A. Karam, Christopher G. Wood, Cheryl L. Walker, Giannicola Genovese, Nizar M. Tannir

Issue&Volume: 2020-04-30

Abstract: Renal medullary carcinoma (RMC) is a highly lethal malignancy that mainly afflictsyoung individuals of African descent and is resistant to all targeted agents usedto treat other renal cell carcinomas. Comprehensive genomic and transcriptomic profilingof untreated primary RMC tissues was performed to elucidate the molecular landscapeof these tumors. We found that RMC was characterized by high replication stress andan abundance of focal copy-number alterations associated with activation of the stimulatorof the cyclic GMP-AMP synthase interferon genes (cGAS-STING) innate immune pathway.Replication stress conferred a therapeutic vulnerability to drugs targeting DNA-damagerepair pathways. Elucidation of these previously unknown RMC hallmarks paves the wayto new clinical trials for this rare but highly lethal malignancy.

DOI: 10.1016/j.ccell.2020.04.002

Source: https://www.cell.com/cancer-cell/fulltext/S1535-6108(20)30164-1