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Publication Detail

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

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

Published In Cancer Cell, (2020 05 11)

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.

PubMed ID: 32359397 Exiting the NIEHS site

MeSH Terms: Adult; Animals; Apoptosis; Biomarkers, Tumor/genetics; Biomarkers, Tumor/metabolism*; Carcinoma, Medullary/genetics; Carcinoma, Medullary/immunology; Carcinoma, Medullary/pathology*; Carcinoma, Renal Cell/genetics; Carcinoma, Renal Cell/immunology; Carcinoma, Renal Cell/pathology*; Cell Proliferation; Chromosome Aberrations*; Cohort Studies; DNA Copy Number Variations; DNA Replication*; Female; Gene Expression Regulation, Neoplastic; Genomics; High-Throughput Nucleotide Sequencing; Humans; Kidney Neoplasms/genetics; Kidney Neoplasms/immunology; Kidney Neoplasms/pathology*; Male; Membrane Proteins/genetics; Membrane Proteins/metabolism; Mice; Mice, Nude; Nucleotidyltransferases/genetics; Nucleotidyltransferases/metabolism; Prognosis; Proto-Oncogene Proteins c-myc/genetics; Proto-Oncogene Proteins c-myc/metabolism; SMARCB1 Protein/genetics; SMARCB1 Protein/metabolism*; Tumor Cells, Cultured; Xenograft Model Antitumor Assays

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