Patient population: older children, adolescents, young and middle-aged adults (late 30’s) with sickle cell trait (including SC) or sickle cell disease. Males predominate in tumors presenting before age 24, but both genders are affected afterwards.
Clinical features:
(1) The patient may present with hematuria, abdominal or flank pain and weight loss.
(2) The tumor is located in the renal medulla in or near a renal papilla.
(3) The tumor is typically aggressive with metastases present at diagnosis and a short survival after diagnosis.
(4) The tumor is resistant to chemotherapy.
The diagnosis may be delayed if hematuria or abdominal pain is ascribed to another cause and imaging studies are not performed.
Histologic features:
(1) patterns include: trabecular, cribiform, sarcomatoid, micropapillary, yolk sac-like, adenoid cystic, other
(2) Tumor nuclei are large and vesicular with prominent nucleoli.
(3) Tumor cells are positive for CAM5.2, EMA and vascular endothelial growth factor (VEGF). Some cells may be positive for TP53.
(4) Venous, lymphatic and ureteral invasion are common.
(5) Sickled erythrocytes are often found in renal blood vessels.