{"entity":{"id":"renal-medullary-carcinoma","kind":"cancer","name":"Renal medullary carcinoma (SMARCB1-deficient)","aka":["SMARCB1-deficient renal medullary carcinoma","Renal medullary carcinoma","RMC","Sickle cell nephropathy-associated carcinoma"],"tldr":"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.","summary":"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).\n\nHow 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.\n\nHow common: no registry figure; 52 cases across eight centres in 15 years (BJU International 2017).\n\nTreatment: 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).","asOf":"2026-09-24","wikipedia":"https://en.wikipedia.org/wiki/Renal_medullary_carcinoma","links":[{"label":"NCI PDQ: renal cell cancer treatment","url":"https://www.cancer.gov/types/kidney/patient/kidney-treatment-pdq"},{"label":"Moch 2022, European Urology: the 2022 WHO classification of urinary and male genital tumours, part A (renal, penile, testicular)","url":"https://doi.org/10.1016/j.eururo.2022.06.016"},{"label":"Histopathology 2012: SMARCB1/INI1 inactivation in renal medullary carcinoma","url":"https://doi.org/10.1111/j.1365-2559.2012.04228.x"},{"label":"Clin Cancer Res 2018: a model linking sickle cell haemoglobinopathies and SMARCB1 loss in renal medullary carcinoma","url":"https://doi.org/10.1158/1078-0432.ccr-17-3296"},{"label":"BJU International 2017: management and outcomes of 52 patients with renal medullary carcinoma","url":"https://doi.org/10.1111/bju.13705"},{"label":"Am J Surg Pathol 2012: collecting duct carcinoma and renal medullary carcinoma, 52 cases","url":"https://doi.org/10.1097/pas.0b013e3182635954"}],"tags":["subtype-page","wave4","kidney","rare"],"related":["rcc","collecting-duct-carcinoma","clear-cell-rcc","papillary-rcc"],"cancers":[],"sections":[],"technologies":[],"targets":["smarcb1"],"drugs":["cisplatin","carboplatin","gemcitabine"],"companies":[],"institutions":[],"pathways":[],"terms":["nephrectomy"],"trials":[],"people":[],"bottlenecks":[],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"group":"genitourinary","burden":"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.","subtypes":["Renal medullary carcinoma in sickle cell trait (the usual setting; right kidney)","Renal medullary carcinoma without sickle haemoglobinopathy (renal cell carcinoma unclassified with medullary phenotype)","Collecting duct carcinoma with retained SMARCB1 (own page)"],"biomarkers":["SMARCB1 (INI1) loss on immunohistochemistry","Sickle cell trait or disease","OCT3/4 expression","Stage at diagnosis"],"standardOfCare":[{"setting":"All stages","approach":"Platinum-based chemotherapy and nephrectomy where possible; no proven targeted or immune therapy; trials where available.","refs":["nephrectomy","cisplatin","carboplatin","gemcitabine"]}],"stateOfArt":[],"history":[],"pipeline":[],"openProblems":[],"parent":"rcc"},"route":"/cancers/renal-medullary-carcinoma/","neighbours":{"cancer":[{"id":"clear-cell-rcc","kind":"cancer","name":"Clear cell renal cell carcinoma","route":"/cancers/clear-cell-rcc/"},{"id":"collecting-duct-carcinoma","kind":"cancer","name":"Collecting duct carcinoma of the kidney","route":"/cancers/collecting-duct-carcinoma/"},{"id":"papillary-rcc","kind":"cancer","name":"Papillary renal cell carcinoma","route":"/cancers/papillary-rcc/"},{"id":"rcc","kind":"cancer","name":"Renal cell carcinoma","route":"/cancers/rcc/"},{"id":"tfe3-rearranged-renal-cell-carcinoma","kind":"cancer","name":"TFE3-rearranged (translocation) renal cell carcinoma","route":"/cancers/tfe3-rearranged-renal-cell-carcinoma/"}],"target":[{"id":"smarcb1","kind":"target","name":"SMARCB1","route":"/targets/smarcb1/"}],"drug":[{"id":"carboplatin","kind":"drug","name":"Carboplatin","route":"/drugs/carboplatin/"},{"id":"cisplatin","kind":"drug","name":"Cisplatin","route":"/drugs/cisplatin/"},{"id":"gemcitabine","kind":"drug","name":"Gemcitabine","route":"/drugs/gemcitabine/"}],"term":[{"id":"nephrectomy","kind":"term","name":"Nephrectomy","route":"/terms/nephrectomy/"}]}}