Dr. Blum Discusses the Challenges of Diagnosing Renal Medullary Carcinoma

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Kyle A. Blum, MD, MS, discusses how few physicians have experience with renal medullary carcinoma, and the disease often presents with nonspecific symptoms.

Kyle A. Blum, MD, MS, is a urologic surgery resident at The University of Texas MD Anderson Cancer Center. His research focus includes renal medullary carcinoma (RMC), a highly aggressive subtype of renal cancer that typically affects young adults, often African American, with sickle cell trait. RMC is extremely rare, accounting for just 0.5% to 1% of all renal cancers.

It can be difficult to differentiate RMC from other aggressive renal malignancies using standard histology evaluation, suggesting that prevalence is likely higher than reported.

Blum says that patients tend to be young men, often complain with nonspecific symptoms, and have advanced disease at diagnosis. Patients may present with belly pain, flank or side pain, fatigue, and/or blood in their urine. These patients may also experience unplanned weight changes or fatigue. These nonspecific symptoms may suggest kidney cancer, but if the patient is a young man male with a large renal mass, Blum says it is important to consider the possibility of RMC.

He says that conducting electrophoresis to detect the sickle cell trait can also provide a crucial clue. Nearly all patients with RCM also display sickle cell trait. Blum also recommends testing for loss of SMARCB1, which is very specific for this disease.

Blum says that the diagnosis of RMC is extremely nuanced and “requires a keen eye.” Because the disease is so rare, relatively few physicians have experience with diagnosis and treatment. A coalition of expert clinicians, researchers, and patient advocates have come together to establish the RMC Alliance, a nonprofit organization that supports RMC research and educates clinicians, patients, and families about the disease.

He says that RMC is different from the more common renal cell carcinoma and its pathology is so unique, that it requires a dedicated group of scientists and physicians to regularly update the RMC Alliance website with information regarding diagnosis and management.

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