A Case of Renal Medullary Carcinoma in a Young Male with Sickle Cell Trait: Case Report and Review of Literature
Vallathol Dilip Harindran, Thomas Babu, Lakshmy S Kumar, Thanseer NTK, Warrier N K
Asian Oncology Research Journal · pp. 108–113 · Published 18 Jun 2025
10.9734/aorj/2025/v8i1106Abstract
Renal medullary carcinoma is an uncommon malignancy that occurs predominantly in young males with sickle cell trait. This cancer is driven by the loss of a tumor suppressor gene called SMARCB1 which is mutated in a variety of rare childhood cancers. Due to its aggressive nature, most cases are metastatic at the time of diagnosis. Prognosis is poor with a usual survival of less than 1 year as per current available data. Treatment options are sparse mainly due to the limited knowledge on the biology of the disease. Here we present a case of metastatic renal medullary carcinoma in a 30-year-old Asian male. He underwent nephrectomy and was on chemo immunotherapy. He had very good response to treatment but progressed rapidly while on maintenance therapy after around 1 year. Enrolment in clinical trials is the best option where available for treatment of renal medullary carcinoma. More recently, with the development of genomics, newer targets and avenues of treatment are in the pipeline.
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