Unusual Presentation of Renal Medullary Carcinoma With Undiagnosed Sickle Cell Trait

Abstract

Renal medullary carcinoma (RMC) is an extremely rare malignancy that has been described in younger male patients of African descent with a history of sickle cell disease or trait. We describe a rather unique case of RMC in an older male patient who initially presented with acute on chronic urinary retention and concern for infection. Further investigation revealed a history of hematuria and long-standing microcytic anemia, and the patient was found to have sickle cell trait (SCT) as part of a workup for malignancy of unknown primary. Imaging findings initially interpreted as hydronephrosis later characterized a mass in the renal pelvis concerning for a genitourinary malignancy, later biopsy-proven RMC. RMC typically presents in its advanced stages, with associated poor prognosis, and treatment options are limited and have been extrapolated from standard regimens for other genitourinary malignancies. Therefore, early clinical suspicion in patients with microcytic anemia, flank pain, hematuria, and urinary symptoms, can aid in the diagnosis of RMC and allow for prompt intervention.

PI3K/AKT/mTOR Dysregulation and Reprogramming Metabolic Pathways in Renal Cancer: Crosstalk with the VHL/HIF Axis

“…Renal Medullary Carcinoma (RMC) Renal medullary carcinoma is very rare, representing 0.5-1% of the RCCs [30,47] and it develops more frequently in the 2nd-3rd decades of life, with a higher incidence in Mediterranean and African males [48]. Additionally, it has been observed that patients with sickle cell disease are at increased risk to develop RMC [47][48][49]. This type of carcinoma develops from the distal nephron and is extremely aggressive, with the 3-year survival rate being less than 5% [47,50].…”