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Renal medullary carcinoma is a very rare, very aggressive kidney cancer of young people who carry the sickle cell trait, driven by loss of the SMARCB1 gene. Most patients have spread at diagnosis and live about a year on average; chemotherapy and removal of the kidney are the main treatments, and better drugs are urgently needed.
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 afflicts 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.
How common: no registry figure; 52 cases across eight centres in 15 years (BJU International 2017).
Treatment: platinum-based chemotherapy is the mainstay and provides palliation, with nephrectomy associated with longer survival in the series; no targeted or immune therapy has proven benefit, and trials of EZH2 and other epigenetic drugs suited to SMARCB1 loss are the research direction (BJU International 2017).
Very rare: 52 patients treated at eight North American and French academic centres over 2000 to 2015, median age 28 (range 9 to 48), 94 percent stage III or IV, 37 of 52 male (BJU International 2017). No registry figure was found in the sources read.
Renal cell carcinoma comes from the kidney's filtering cortex, urothelial cancer from the lining of the collecting system and bladder, and the adrenal on top hosts cortical and medullary (neuroblastoma) tumours.
Same organ: Collecting duct carcinoma of the kidney, TFE3-rearranged (translocation) renal cell carcinoma, Fumarate hydratase-deficient renal cell carcinoma (HLRCC-associated), Succinate dehydrogenase-deficient renal cell carcinoma, Mucinous tubular and spindle cell carcinoma of the kidney, Eosinophilic solid and cystic renal cell carcinoma, Clear cell papillary renal cell tumour, Urothelial carcinoma of the urethra, Squamous cell carcinoma of the urethra, Adenocarcinoma of the urethra (including clear cell adenocarcinoma), Melanoma of the urethra, Non-muscle-invasive bladder cancer, Muscle-invasive and advanced bladder cancer, Bladder & urothelial cancer, Clear cell renal cell carcinoma, Papillary renal cell carcinoma, Chromophobe renal cell carcinoma, Renal cell carcinoma, Wilms tumour (nephroblastoma), Neuroblastoma (paediatric), Low-risk neuroblastoma (INRG very low and low risk, including stage MS), Intermediate-risk neuroblastoma, High-risk neuroblastoma, Adrenocortical carcinoma, Pheochromocytoma and paraganglioma (PPGL), Urethral cancer, Penile cancer, Localised penile cancer (organ-confined, node-negative), Node-positive and metastatic penile cancer, Localised adrenocortical carcinoma (ENSAT stage I to III, resectable), Advanced and metastatic adrenocortical carcinoma (ENSAT stage IV or unresectable), Hereditary pheochromocytoma and paraganglioma (SDHx, VHL, RET, NF1, MAX and TMEM127), Metastatic pheochromocytoma and paraganglioma
Platinum-based chemotherapy and nephrectomy where possible; no proven targeted or immune therapy; trials where available.
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Query for this cancer: (TITLE:"Renal medullary carcinoma" OR ABSTRACT:"Renal medullary carcinoma" OR TITLE:"SMARCB1-deficient" OR ABSTRACT:"SMARCB1-deficient" OR TITLE:"SMARCB1-deficient renal medullary carcinoma" OR ABSTRACT:"SMARCB1-deficient renal medullary carcinoma" OR TITLE:"RMC" OR ABSTRACT:"RMC" OR TITLE:"Sickle cell nephropathy-associated carcinoma" OR ABSTRACT:"Sickle cell nephropathy-associated carcinoma") AND (treatment OR therapy OR trial OR survival OR diagnosis). Results are unfiltered search hits about Renal medullary carcinoma (SMARCB1-deficient), not a curated reading list.
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Bleeding that will not stop, black or bloody stools, or unexplained bruising when platelets are expected to be low.
Dose by Calvert formula using GFR (see the calculators).
Dose reduce or avoid for CrCl below 60 (carboplatin is the alternative).
Reactions around the moment a drug is given: chills, fever or breathlessness from antibodies (infusion reactions), true allergy (hypersensitivity, rarely anaphylaxis), and leakage of a damaging drug into tissue around the vein (extravasation).
During chemotherapy for triple-negative breast cancer a temperature over 37.5 C or below 36 C, shivering, or feeling unwell even with a normal temperature means ringing the hospital's 24-hour line straight away; breathing very fast, confusion, mottled skin or no urine in a day means 999.
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