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4 slides generated from the cancer page, with a quiz from the open benchmark and speaker notes that cite the sources. Arrow keys move between slides; Print gives one slide per page.
Renal medullary carcinoma is a rare kidney cancer of young people with the sickle cell trait, driven by loss of SMARCB1. Platinum chemotherapy and removing the kidney are the main treatments. Most have spread when found; in the 52-patient series median survival was 13.0 months, 16.4 with nephrectomy against 7.0 without. So few centres see it that a trial and a second opinion are worth asking for.
The 2022 WHO classification names SMARCB1-deficient renal medullary carcinoma as a molecularly defined type (Moch 2022). It shares site, size and poorly differentiated histology with collecting duct carcinoma but is set apart by complete loss of SMARCB1 (INI1) expression, found in all six renal medullary carcinomas and only one of 22 collecting duct carcinomas in the defining study, with loss of one SMARCB1 allele and cyclin D1 expression (Histopathology 2012; Am J Surg Pathol 2012). It occurs in adolescents and young adults with sickle haemoglobinopathies; the proposed mechanism is that hypoxia, hypertonicity and ischaemia from red cell sickling in the renal medulla drive deletions and translocations of SMARCB1, which lies in a fragile region of chromosome 22, explaining the age dependence and the predilection for the right kidney (Clin Cancer Res 2018). In the 52-patient series median overall survival was 13.0 months; 75 percent had nephrectomy, and those who did survived longer than patients given systemic therapy alone (16.4 against 7.0 months) (BJU International 2017).
How it differs from its parent: age, the sickle cell association, the SMARCB1 loss that groups it biologically with other SMARCB1-deficient tumours, and resistance to the renal cell carcinoma drugs.
| Setting | Approach | Guideline |
|---|---|---|
| All stages | Platinum-based chemotherapy and nephrectomy where possible; no proven targeted or immune therapy; trials where available. | not mapped |