{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Tang Y"],"funding":["National Natural Science Foundation of China","National Natural Science Foundation of China (National Science Foundation of China)"],"pagination":["261"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11564649"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["8(1)"],"pubmed_abstract":["The WHO's classification of renal cell carcinoma (RCC) has identified loss of SMARCB1 as one of the driven mutations. Despite intensive postoperative interventions, the prognosis for SMARCB1-deficient medullary RCC remains poor, indicating insufficiency in current therapy. Herein, we reported the treatment outcomes of five patients with metastatic SMARCB1-deficient medullary RCC and molecular correlates. Four patients were treated with first-line immune checkpoint inhibitors (ICI) plus tyrosine kinase inhibitors (TKI) combination therapy with a median PFS (mPFS) of 12.3 months. Transcriptomic analysis revealed enrichment of immune-related pathways in SMARCB1-deficient medullary RCC compared to clear-cell and papillary RCC. Multiple immunofluorescence (mIF) revealed the association between "],"journal":["NPJ precision oncology"],"pubmed_title":["Tertiary lymphoid structures potentially promote immune checkpoint inhibitor response in SMARCB1-deficient medullary renal cell carcinoma."],"pmcid":["PMC11564649"],"funding_grant_id":["82373422"],"pubmed_authors":["Liu H","Chen N","Guo J","Chen J","Zhang Y","Hu X","Zhang M","Chen Y","Zeng H","Sun G","Zhao J","Tang Y"],"additional_accession":[]},"is_claimable":false,"name":"Tertiary lymphoid structures potentially promote immune checkpoint inhibitor response in SMARCB1-deficient medullary renal cell carcinoma.","description":"The WHO's classification of renal cell carcinoma (RCC) has identified loss of SMARCB1 as one of the driven mutations. Despite intensive postoperative interventions, the prognosis for SMARCB1-deficient medullary RCC remains poor, indicating insufficiency in current therapy. Herein, we reported the treatment outcomes of five patients with metastatic SMARCB1-deficient medullary RCC and molecular correlates. Four patients were treated with first-line immune checkpoint inhibitors (ICI) plus tyrosine kinase inhibitors (TKI) combination therapy with a median PFS (mPFS) of 12.3 months. Transcriptomic analysis revealed enrichment of immune-related pathways in SMARCB1-deficient medullary RCC compared to clear-cell and papillary RCC. Multiple immunofluorescence (mIF) revealed the association between ","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Nov","modification":"2025-04-21T22:14:27.982Z","creation":"2025-04-05T18:40:15.04Z"},"accession":"S-EPMC11564649","cross_references":{"pubmed":["39543276"],"doi":["10.1038/s41698-024-00756-x"]}}