2020
DOI: 10.1016/j.ccell.2020.04.002
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Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma

Abstract: Highlights d The molecular profile of RMC distinguishes it from other renal malignancies d RMC harbors a high number of focal chromosomal alterations d RMC has a distinct immune profile characterized by upregulation of cGAS-STING d DNA replication stress is a hallmark of RMC that can be therapeutically targeted

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Cited by 87 publications
(146 citation statements)
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References 110 publications
(117 reference statements)
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“…1,4 Our transcriptomic analysis suggested that both RMC and CDC originate from the collecting ducts, in contrast to kidney MRTs. 3 Furthermore, the gene expression signature of RMC clearly distinguished this disease from UTUC and kidney MRT, whereas it shared similar core metabolic and hypoxia-associated gene expression patterns with CDC. 3 Conversely, pathways associated with MYC-induced replication stress were significantly upregulated in RMC compared with CDC tumors.…”
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confidence: 91%
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“…1,4 Our transcriptomic analysis suggested that both RMC and CDC originate from the collecting ducts, in contrast to kidney MRTs. 3 Furthermore, the gene expression signature of RMC clearly distinguished this disease from UTUC and kidney MRT, whereas it shared similar core metabolic and hypoxia-associated gene expression patterns with CDC. 3 Conversely, pathways associated with MYC-induced replication stress were significantly upregulated in RMC compared with CDC tumors.…”
mentioning
confidence: 91%
“…We further established a tumor-derived cell line and patient-derived xenograft (PDX) model of RMC, which allowed us to investigate a new treatment approach that exploits the therapeutic vulnerability to DNA damage repair (DDR) inhibition that we discovered characterizes this highly malignant tumor. 3 We found that the frequency of single-nucleotide variations (SNVs) in RMC is some of the lowest seen across all cancers. However, RMC is characterized by an abundance of larger structural alterations such as recurrent focal copy number alterations (often in chromosomal fragile sites), gain of chromosome 8q (where c-MYC is located), as well as deletions and inactivating translocations of the SMARCB1 gene.…”
mentioning
confidence: 93%
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