This review examines the aggressive nature of renal medullary carcinoma and defines treatment challenges due to its association with sickle hemoglobinopathies.
SMARCB1-deficient renal medullary carcinoma is one of the most aggressive forms of kidney cancer and mainly affects individuals with sickle hemoglobinopathies. Herein, we have sought to provide a contemporary update regarding our understanding of this entity. Recent studies have improved our understanding of the pathophysiology of this tumor including potential modifiable risk factors, putative cell of origin, and mechanisms of SMARCB1 loss. Furthermore, mechanisms of oncogenesis based on the SMARCB1-deficient phenotype continue to be elucidated. These tumors are classified as SMARCB1-deficient renal medullary carcinoma, and SMARCB1-deficient medullary-like renal cell carcinoma based on the presence of sickle hemoglobinopathies, and established subtypes of renal cell carcinoma with secondary SMARCB1 loss continue to be identified. Current diagnostic algorithms help in separating the above-mentioned tumors from morphologic mimics which include collecting duct carcinoma, upper tract urothelial carcinoma, FH-deficient, and ALK -rearranged renal cell carcinoma which have different natural histories and therapeutic implications. Finally, there is an unmet need to develop better treatment regimens for patients with renal medullary carcinoma given its aggressive clinical course and several agents continue to be evaluated in addition to standard-of-care platinum-based cytotoxic chemotherapy.
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Whaley et al. (2025) studied this question.
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