In addition, we discovered the relationship between genetic mutations and immune checkpoints. This work highlights the single-cell transcriptome and DNA-level information of this rare ccRCC and will provide more genetic insights and references into this rare disease.
1 day ago
Journal
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BCR (BCR Activator Of RhoGEF And GTPase) • VHL (von Hippel-Lindau tumor suppressor)
Finally, tumouroids were subjected to treatment with Pazopanib (Votrient™), a tyrosine kinase inhibitor (TKI) used in the treatment of advanced RCC...Tumouroids mimic the original tumour and its microenvironment and elicit response to drugs that target both the tumour cells and the tumour microenvironment. This is a patient-specific in vitro tool that addresses the unmet clinical need for predicting an individual's response to therapy.
Patient and family cancer history included other BAP1 -TPDS associated cancers, but only three patients had relatives with meningioma. Our findings indicate a need for routine craniospinal imaging in BAP1 -TPDS patients, and surveillance should include patients without family history of meningioma and patients under the age of 30.
Here, we report a case of TFE3-rearranged RCC with extensive calcification in a young female, emphasizing imaging-pathologic correlation to enhance diagnostic accuracy. This case underscores the importance of recognizing atypical radiological features in rare RCC subtypes.
2 days ago
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TFE3 (Transcription Factor Binding To IGHM Enhancer 3)
These findings raise the hypothesis of a potential association between PM and GU malignancy. Shared origins, oncogenesis of similar cell types, environmental exposures or genetic predispositions may contribute and warrant further investigation.
P=N/A, N=248, Active, not recruiting, Regina Elena Cancer Institute | Trial primary completion date: Jul 2025 --> Jul 2028 | Recruiting --> Active, not recruiting