Rare, aggressive malignant neoplasm found almost exclusively in patients with sickle cell trait, or, less frequently, sickle cell disease.
Also named as “seventh sickle cell nephropathy”
Extremely rare tumor and comprises < 0.5% of all renal carcinomas.
WHO Classification of Tumours of the Urinary System and Male Genital Organs:
High-grade renal adenocarcinoma with histologic and immunophenotypic findings consistent with those of medullary carcinoma occurring in a patient with no evidence of a hemoglobinopathy is best categorized as unclassified renal cell carcinoma (RCC) with medullary phenotype.
Arise from the renal papillae or calyceal epithelium and may be triggered by chronic medullary hypoxia as a result of sickled red cells in individuals with HbS and is suggested by strong expression of vascular endothelial growth factor and hypoxia-inducible factor.
Loss of SMARCB1/INI1 in the switch/sucrose nonfermentable (SWI/SNF) complex, a key mediator of chromatin remodelling and modulation of transcriptional activity.
Biallelic loss of SMARCB1/INI1 is a hallmark feature in several childhood cancers:
Malignant rhabdoid tumour of the kidney
Atypical teratoid/rhabdoid tumour
RMC occurs in the right kidney (> 75% cases)
M/C sites: Liver & lungs > bone & adrenal glands
Most patients having metastatic disease at the time of presentation
Commonly presents as a young male patient of African/Mediterranean descent, with hematuria and/or flank pain
Palpable flank mass
Fine-needle aspiration cytology:
Features of a high-grade carcinoma with loosely cohesive groups of cells in a background of scattered individual cells.
Highly aggressive cancer and resistant to conventional chemotherapy
Average length of survival after diagnosis: 4 months