Renal medullary carcinoma: molecular, pathological and clinical evidence for treatment with topoisomerase-inhibiting therapy

BJU Int. 2010 Jul;106(1):62-5. doi: 10.1111/j.1464-410X.2009.09139.x. Epub 2009 Dec 11.


Study type: Aetiology (case series) Level of Evidence 4.

Objective: To present the molecular rationale and potential clinical benefit of topoisomerase II (TopoII)-inhibiting therapy for renal medullary carcinoma (RMC), a rare but extremely lethal form of kidney cancer that classically afflicts young men with sickle-cell trait. The current therapeutic approach with these aggressive tumours is radical nephrectomy followed by systemic chemotherapy, but the prognosis remains dismal.

Materials and methods: The whole-genome expression was analysed in four RMC tumours. We also report a case of metastatic RMC in which a complete response was achieved for 9 months using a TopoII-inhibiting therapy.

Results: Expanded whole-genome expression analysis showed increases of TopoII in all cases. There was also overall deregulation of DNA remodelling and repair, and an ontological association between RMC and urothelial carcinoma. Using a TopoII-inhibiting agent, there was a complete response for 9 months in a patient with metastatic RMC.

Conclusion: This report provides molecular evidence for the rational use of TopoII inhibitors in the treatment of RMC.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Anemia, Sickle Cell / complications*
  • Antigens, Neoplasm / metabolism
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Carcinoma, Medullary / enzymology
  • Carcinoma, Medullary / genetics
  • Carcinoma, Medullary / therapy*
  • Carcinoma, Renal Cell / genetics
  • Carcinoma, Renal Cell / therapy*
  • Combined Modality Therapy
  • DNA Topoisomerases, Type II / metabolism
  • DNA-Binding Proteins / antagonists & inhibitors*
  • DNA-Binding Proteins / metabolism
  • Enzyme Inhibitors / therapeutic use*
  • Humans
  • Immunohistochemistry
  • Kidney Neoplasms / enzymology
  • Kidney Neoplasms / genetics
  • Kidney Neoplasms / therapy*
  • Male
  • Nephrectomy
  • Prognosis
  • Topoisomerase II Inhibitors*
  • Treatment Outcome
  • Young Adult


  • Antigens, Neoplasm
  • DNA-Binding Proteins
  • Enzyme Inhibitors
  • Topoisomerase II Inhibitors
  • DNA Topoisomerases, Type II