Discussion:

SMARCB1 (INI1)-deficient renal cell carcinoma is a rare, aggressive form of medullary cancer

It can present in patients with sickle cell trait and arises due to hypoxia in medulla

Often presents on the right side with fluid buildup in the kidneys and lymphadenopathy

Common symptoms are hematuria, flank pain, weight loss

Often metastasized by the time of diagnosis

Prognosis is up to a year after diagnosis

Physical mass presents as a rubbery, gray tumor in medulla

It can extend into calyces and may have necrotic tissue

Induction of Non-homologous end joining leads to deletion of SMARCB1 gene which acts to instruct SWI/SNF protein formation for gene expression control