Gains of chromosomes 7 and 17 in tubulocystic carcinoma of kidney: two cases with fluorescence in situ hybridisation analysis

Abstract

Tubulocystic carcinoma (TCC) is a very rare renal tumour with unique gross and microscopic features, alternatively considered as low-grade collecting duct carcinoma. Recent studies favoured distinction of TCC from collecting duct carcinoma, and some cases of TCC synchronously coexisting with other renal cell tumour subtypes were described. We report here two new cases of pure (case 1) or mixed (case 2) TCC with fluorescence in situ hybridisation (FISH) analysis, which showed gains of chromosomes 7 and 17 in the pure TCC of case 1, as well as in the TCC and the papillary renal cell carcinoma (PRCC) components in case 2. These data may further support the notion that TCC is more closely related to PRCC.

Tubulocystic Renal Cell Carcinoma: An Underrecognized Clinicopathologic Entity

“…14,15 Documentation of concomitant tubulocystic renal cell carcinoma and papillary renal cell carcinoma in the same kidney and foci of papillary renal cell carcinoma within tubulocystic renal cell carcinoma has supported this proposal. 16,17 In our case, we also documented the presence of foci of papillary renal cell carcinoma.…”

New entities, new technologies, new findings: A review of the cytologic features of recently established subtypes of renal cell carcinoma

“…The molecular pathogenesis is not entirely understood, and reports vary from loss of multiple chromosomes to gains of chromosomes 7 and 17, similar to PRCC. 62,63 More recently, in a well characterized cohort of tumors that had a pure tubulocystic pattern, we observed more distinctive findings, including losses of chromosomes 9 and Y, gains at chromosome 17, as well as recurrent mutations in chromatin-modifying genes, such as KMT2C and KDM5C. 64 To our knowledge, there is only a single report of TB RCC cytology.…”

Tubulocystic Carcinoma of the Kidney With Multiple Focal Clear Cell Characteristics in a Young Male: A Case Report

“…Macroscopically, the tumors are well circumscribed usually, with a "bubble wrap" or "Swiss cheese" appearcance. The maximum size was no more than 5.0 cm in most cases [7,8,[10][11][12][13][14]. Microscopically, the tumors are composed of closely packed small tubules and cysts.…”

“…The cytoplasm is eosinophilic in most cells, while some cells may show clear cytoplasm. The prominent nucleoli may be one of the important characters in these tumors [6][7][8]10,[12][13][14]. Immunohistochemically, the tumors share the features of both proximal (CD10 and AMACR) and distal tubules (CK19) [10,11].…”