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

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

SUBMITTER: Msaouel P 

PROVIDER: S-EPMC7288373 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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

Msaouel Pavlos P   Malouf Gabriel G GG   Su Xiaoping X   Yao Hui H   Tripathi Durga N DN   Soeung Melinda M   Gao Jianjun J   Rao Priya P   Coarfa Cristian C   Creighton Chad J CJ   Bertocchio Jean-Philippe JP   Kunnimalaiyaan Selvi S   Multani Asha S AS   Blando Jorge J   He Rong R   Shapiro Daniel D DD   Perelli Luigi L   Srinivasan Sanjana S   Carbone Federica F   Pilié Patrick G PG   Karki Menuka M   Seervai Riyad N H RNH   Vokshi Bujamin H BH   Lopez-Terrada Dolores D   Cheng Emily H EH   Tang Ximing X   Lu Wei W   Wistuba Ignacio I II   Thompson Timothy C TC   Davidson Irwin I   Giuliani Virginia V   Schlacher Katharina K   Carugo Alessandro A   Heffernan Timothy P TP   Sharma Padmanee P   Karam Jose A JA   Wood Christopher G CG   Walker Cheryl L CL   Genovese Giannicola G   Tannir Nizar M NM  

Cancer cell 20200430 5

Renal medullary carcinoma (RMC) is a highly lethal malignancy that mainly afflicts young individuals of African descent and is resistant to all targeted agents used to treat other renal cell carcinomas. Comprehensive genomic and transcriptomic profiling of untreated primary RMC tissues was performed to elucidate the molecular landscape of these tumors. We found that RMC was characterized by high replication stress and an abundance of focal copy-number alterations associated with activation of th  ...[more]

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