A Man Found Blood In His Urine. This Is What Was Growing In His Kidneys.

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Renal Medullary Carcinoma is a sickle cell related kidney malignancy that is usually diagnosed in young patients (median age at diagnosis 28 years old). It is considered a rare malignancy but likely afflicts more people than prior literature suggests given that review of that literature shows patients more in line with Renal Medullary Carcinoma rather than Collecting Duct Carcinoma. 3 year overall survival of RMC is 3%. Upfront chemotherapy then surgery is the suggested treatment. Response rate to platinum based chemotherapies, gemcitabine, doxorubicin is 29%.

These cases are patients who I, or my colleagues have seen. They are de-identified and many instances have been presented in more depth in an academic setting. These videos are not individual medical advice and are for general educational purposes only. I do not give medical advice over the internet.

A Man Saw Blood In His Urine. This Is What Happened To His Kidney.

References:

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A Model Linking Sickle Cell Hemoglobinopathies and SMARCB1 Loss in Renal Medullary Carcinoma. Clin Cancer Res. 2018 May 1;24(9):2044-2049. https://pubmed.ncbi.nlm.nih.gov/29440...

Updated Recommendations on the Diagnosis, Management, and Clinical Trial Eligibility Criteria for Patients With Renal Medullary Carcinoma. Clin Genitourin Cancer. 2019 Feb;17(1):1-6. https://pubmed.ncbi.nlm.nih.gov/30287...

Five decades of urologic pathology: the accelerating expansion of knowledge in renal cell neoplasia. Hum Pathol. 2020 Jan;95:24-45. https://pubmed.ncbi.nlm.nih.gov/31655...

GG Malouf, NM Tannir, P Rao, P Msaouel. Renal Medullary Carcinoma in Rare Kidney Tumors.

Comprehensive Molecular Characterization Identifies Distinct Genomic and Immune Hallmarks of Renal Medullary Carcinoma. Cancer Cell. 2020 May 11;37(5):720-734.e13. https://pubmed.ncbi.nlm.nih.gov/32359...

The DNA sequence of human chromosome 22. Nature. 1999 Dec 2;402(6761):489-95. https://pubmed.ncbi.nlm.nih.gov/10591...

High-intensity exercise is a risk factor for renal medullary carcinoma in individuals with sickle cell trait. Preprint.

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Genes affecting the regulation of SUC2 gene expression by glucose repression in Saccharomyces cerevisiae. Genetics. 1984 Dec;108(4):845-58. https://pubmed.ncbi.nlm.nih.gov/6392017/

Purification and biochemical heterogeneity of the mammalian SWI-SNF complex. EMBO J. 1996 Oct 1; 15(19): 5370–5382. https://www.ncbi.nlm.nih.gov/pmc/arti...