Acquired cystic disease‐associated renal cell carcinoma with a focal sarcomatoid component: Report of a case showing more pronounced polysomy of chromosomes 3 and 16 in the sarcomatoid component

Abstract

Acquired cystic disease (ACD)-associated renal cell carcinoma (RCC) has recently been established. Herein we report the sixth case of ACD-associated RCC with a sarcomatoid change. The patient was a 77-year-old man who regularly underwent hemodialysis for 14 years due to chronic renal failure resulting from IgA nephropathy. On computed tomography, a large right RCC was observed with contrast enhancement in the arterial phase. A nodular protrusion into the perirenal fat was detected. Right nephrectomy was performed under laparoscopy. Surgically resected specimens revealed a tan-to-yellow tumor (95 × 75 × 55 mm) with a whitish nodule (20 × 15 × 15 mm) invading into the perirenal fat. Histopathologically, the large carcinoma component of the tumor displayed a cribriform or microcystic growth pattern with deposition of oxalate crystals. The whitish nodule corresponded to the sarcomatoid component, and the spindled and pleomorphic tumor cells showed diffuse positivity of p53 on immunohistochemistry. Fluorescence in situ hybridization revealed trisomy of chromosomes 3 and 16 in the carcinoma component, as was expected from the literature. In addition, increased polysomy of these chromosomes was also observed in the sarcomatoid component. This finding may be related to the development of the sarcomatoid component along with the TP53 mutation.

Acquired Cystic Disease–Associated Renal Cell Carcinoma: Review of Pathogenesis, Morphology, Ancillary Tests, and Clinical Features

“…The presence of multiple renal cysts and close association of these specific cyst types with ACD-RCCs suggest a sequential progression from cyst to carcinoma. 12,13 Similarly, atypical cysts lined by cells with eosinophilic cytoplasm and large nucleoli were always found in association with ACD-RCC. 11 The presence of atypical cysts and oxalate deposition is significantly greater in ACD-RCC compared with CCRCC and is believed to be related to the longer duration of dialysis occurring with ACD-RCC.…”

“…2,11 Isoform characterization of cadherin by immunohistochemistry has also shown that ACD-RCC cells are derived from proximal tubules that express N-cadherin but lack E-cadherin, a marker of distal tubule differentiation. 11,12 It has been suggested that the proximal tubule phenotype may contribute to the deposition of calcium oxalate crystals that are characteristic of ACD-RCC. 2 The pathophysiologic mechanisms underlying epithelial hyperplasia and tumorigenesis of ACD-RCC are still under investigation.…”

“…8 The precursor lesion of ACD-RCC is still a subject of ongoing investigation, but researchers have strongly suggested its relation to calcium oxalate deposition and cyst development in ESRD. 5,8,9,[11][12][13] Sule and colleagues 2 hypothesize that increased serum oxalate, proximal tubular phenotype, and lower levels of calcium oxalate inhibitors may promote deposition. Calcium oxalate may cause tubular damage by obstruction and formation of reactive oxygen species, but lack of changes in tumor cell proliferation and apoptosis between RCCs with crystals and those without suggests they may not play a primary role in tumorgenesis.…”

“…The kidneys in which ACD-RCC is diagnosed have features of typical ESRD, including atrophic kidneys with corticomedullary junctions obscured by diffuse, small cortical cysts. 5,12,16 The lesion may be solitary or multifocal, and it may be found in association with atypical cysts, adenomas, or additional neoplasms. 3,5 Bilaterality is seen in more than 20% of cases.…”

“…2,3 Thick, fibrous capsules can be present in larger tumors. 3 The cut surface ranges from yellow-tan 2,8,12 or white, 18 to brown. 17 Focal hemorrhage and necrosis have been described.…”