Treatment of Renal Cell Carcinoma in SMARCB1-Deficient Renal Medullary Carcinoma with Sickle Haemoglobinopathy
Clinical scenario
This protocol addresses renal cell carcinoma arising in the specific context of SMARCB1-deficient renal medullary carcinoma (RMC) in patients with a sickle haemoglobinopathy (including sickle cell trait). RMC is a very rare tumour — representing less than 0.5% of all RCCs — predominantly diagnosed in young adults of African ancestry, with a median age at diagnosis of 28 years.
Treatment approach (overview)
Management involves a surgical component — with a specific resection strategy favoured even in early-stage disease due to the tumour's infiltrative nature — followed by systemic cytotoxic combination chemotherapy. Several regimen options are used in clinical practice; the full structured regimen, including preferred combinations and sequencing, is available via the link below.
References
- Renal medullary carcinoma (RMC) (referred to as SMARCB1-deficient RMC in the 2022 WHO Classification) is a very rare tumour, comprising < 0.5% of all RCCs, predominantly diagnosed in young adults of African ancestry (median age 28 years) with sickle haemoglobinopathies (including sickle cell trait).
- Chemotherapy has proven to be generally ineffective in the treatment of RCC, but can be offered to patients with collecting duct or medullary carcinoma.
- The mainstay systemic treatments for RMC are cytotoxic combination regimens that produce partial or complete responses in ±29% of patients.
- There are no prospective comparisons between different chemotherapy regimens, but most published series used various combinations of platinum agents, taxanes, gemcitabine and/or anthracyclines.
- High-dose-intensity combination of methotrexate, vinblastine, doxorubicin and cisplatin (MVAC) has also shown efficacy against RMC.
- Due to the infiltrative nature and medullary epicentre of RMC, RN is favoured over PN even in very early-stage disease.
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