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Our understanding of how each hereditary kidney cancer adapts to its tissue microenvironment is incomplete. Here, we present single-cell transcriptomes of 108,342 cells from patient specimens including from six hereditary kidney cancers. The transcriptomes displayed distinct characteristics of the cell of origin and unique tissue microenvironment for each hereditary kidney cancer. Of note, hereditary leiomyomatosis and renal cell carcinoma (HLRCC)-associated kidney cancer retained some characteristics of proximal tubules, which were completely lost in lymph node metastases and present as an avascular tumor with suppressed T cells and TREM2-high macrophages, leading to immune tolerance. Birt-Hogg-Dubé (BHD)-associated kidney cancer exhibited transcriptomic intratumor heterogeneity (tITH) with increased characteristics of intercalated cells of the collecting duct and upregulation of FOXI1-driven genes, a critical transcription factor for collecting duct differentiation. These findings facilitate our understanding of how hereditary kidney cancers adapt to their tissue microenvironment.
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http://dx.doi.org/10.1016/j.isci.2022.104463 | DOI Listing |
J Natl Med Assoc
September 2025
Howard University Department of Internal Medicine, Washington, DC, USA; Department of Internal Medicine, University of Maryland School of Medicine, Baltimore, USA.
Introduction: Sickle cell trait (SCT) is a hereditary condition that affects millions worldwide, predominantly in individuals of African, Mediterranean, and Middle Eastern descent. While traditionally considered a benign carrier state, emerging evidence suggests a potential association between SCT and malignancies. This study aims to evaluate the relationship between SCT and the risk of multiple myeloma, renal cancer, leukemia, hepatocellular carcinoma (HCC), and colorectal cancer.
View Article and Find Full Text PDFBMC Nephrol
September 2025
Cerrahpasa Medical Faculty, Division of Nephrology, Istanbul University-Cerrahpasa, Istanbul, Turkey.
Background: Immune complex-mediated membranoproliferative glomerulonephritis (IC-MPGN) and Alport syndrome are distinct glomerular diseases with different pathophysiologic mechanisms. Their coexistence is extremely rare and may present diagnostic and therapeutic challenges.
Case Presentation: A 42-year-old woman presented with persistent proteinuria and hematuria.
BMC Nephrol
August 2025
Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, 430030, China.
Background: Alport syndrome (AS) is a hereditary kidney disorder caused by pathogenic variations in COL4 genes and is clinically characterized by hematuria, proteinuria, and progressive renal impairment. IgA nephropathy (IgAN) is a clinicopathological syndrome characterized by the deposition of IgA or IgA-dominant in the glomerular mesangial areas.
Case Presentation: This article reports a case of a 2-year-and-3-month-old female toddler who presented with hematuria and proteinuria.
Curr Oncol
July 2025
Dipartimento di Medicina Clinica e Chirurgia, Scuola di Medicina e Chirurgia, Università degli Studi di Napoli Federico II, 80131 Napoli, Italy.
(1) Background: Sertoli-Leydig cell tumors (SLCTs) are rare ovarian neoplasms that account for less than 0.5% of all ovarian tumors. They usually affect young women and often present with androgenic symptoms.
View Article and Find Full Text PDFDiagn Pathol
August 2025
Division of Hematology, Oncology, Blood and Marrow Transplant, Nationwide Children's Hospital, 700 Children's Dr, Columbus, OH, 43205, USA.
Background: Hereditary leiomyomatosis and renal cell carcinoma syndrome (HLRCC) is an autosomal dominant tumor predisposition syndrome with germline fumarate hydratase (FH) pathogenic variants. We describe the unusual clinical presentation, morphologic, and immunohistochemical features of bilateral renal cell carcinoma (RCC) occurring in polycystic kidneys in a 15-year-old male with HLRCC.
Case Presentation: The patient was diagnosed with bilateral polycystic kidneys at 1-year old.