Background: A 36-year-old black male with sickle-cell disease, asthma, and dyslipidemia presented with shortness of breath, chest pain, lethargy, and recent fever. Physical examination revealed mild respiratory distress.
Investigations: Chest X-ray, CT, abdominal ultrasound, and MRI.
Diagnosis: Renal medullary carcinoma.
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http://dx.doi.org/10.1038/ncpuro0483 | DOI Listing |
Clin Cancer Res
January 2025
The University of Texas MD Anderson Cancer Center, Houston, Texas, United States.
Purpose: Renal medullary carcinoma (RMC) is a highly aggressive malignancy defined by the loss of the SMARCB1 tumor suppressor. It mainly affects young individuals of African descent with sickle cell trait, and it is resistant to conventional therapies used for other renal cell carcinomas. This study aimed to identify potential biomarkers for early detection and disease monitoring of RMC.
View Article and Find Full Text PDFActa Neuropathol Commun
January 2025
Department of Genitourinary Medical Oncology, The University of Texas MD Anderson Cancer Center Unit 1374, 1155 Pressler St, Houston, TX, 77030-3721, USA.
Renal medullary carcinoma is a rare undifferentiated tumor of the kidney associated with sickle cell trait and characterized by INI1 (SMARCB1) loss. Although metastasis to lungs, lymph nodes, and bone is commonly reported, distant spread to the central nervous system almost never occurs. Here we present an unusual case of a patient with renal medullary carcinoma with metastasis to the brain following treatment which included tazemetostat, an EZH2 inhibitor.
View Article and Find Full Text PDFJ Adv Pract Oncol
November 2024
From Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri.
Medullary renal cell carcinomas are exceedingly rare and essentially uniformly and rapidly fatal. Expeditious diagnosis is crucial. Immediate treatment with a clinical trial or platinum-based chemotherapy is needed for metastatic disease given the aggressive nature of medullary renal cell carcinomas.
View Article and Find Full Text PDFIntern Med
January 2025
Department of Nephrology, The University of Osaka Graduate School of Medicine, Japan.
We encountered a family with hereditary renal failure, renal medullary cysts, pancreatic hypoplasia, hypomagnesemia, liver enzyme abnormalities, and diabetes mellitus (DM). We identified a novel heterozygous variant of HNF1B (NM_000458.4:c.
View Article and Find Full Text PDFJCI Insight
January 2025
Division of Nephrology, The University of Alabama at Birmingham, Birmingham, United States of America.
Disrupted feeding and fasting cycles as well as chronic high fat diet (HFD)-induced obesity are associated with cardiovascular disease risk factors. We designed studies that determined whether two weeks of time-restricted feeding (TRF) intervention in mice fed a chronic HFD would reduce cardiovascular disease risk factors. Mice were fed a normal diet (ND; 10% fat) ad libitum or HFD (45% fat) for 18 weeks ad libitum to establish diet-induced obesity.
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