Renal Translocation Carcinoma With Expression of TFEB

Abstract

The authors describe a case of renal cell carcinoma with t(6; 11) (p21; q12) in a 22-year-old man. The tumor showed typical histological features of this neoplasm with 2 types of cells and hyaline nodules surrounded by small cells. Characteristically, the tumor showed cystic lumina with hyaline-papillary structures inside and in some areas large and irregular intratumoral vessels. On immunohistochemical study, the tumoral cells were positive for melanocytic markers and transcription factor EB, as also for AE1-AE3 and Cam5.2 anticytokeratin antibodies. The expression of epithelial markers in this neoplasm is uncommon, and we think it is an important finding because otherwise, if melanocytic markers such as HMB45 or Melan A are not used, some renal cell carcinomas with the t(6; 11) (p21; q12) may be mistaken for other more common renal cell carcinomas.

t(6;11) Renal Cell Carcinoma (RCC)

“…One of these cases (case 5) was previously reported as a TFEB IHC-positive case but without genetic confirmation. 18 It is noteworthy that the 68-year-old patient (case 8) is as old as any other patient reported with t(6;11) RCC. One patient (case 9) developed a rib metastasis 8 years after resection of a localized renal tumor.…”

Renal cell carcinoma with t(6:11) (p21;q12). A case report highlighting distinctive immunohistologic features of this rare tumor

“…Most RCCs with t(6;11) translocation are negative for pan cytokeratins and EMA. Only four patient cases have been positive for pan CK [1,3,12] and two have been positive for EMA [5] . Immunostains for TFE3 have always been negative in the reported cases [1,2,4,5,9–11] It is noteworthy that immunoreactivity for melanocytic markers HMB45 and Melan A and immunonegativity for epithelial markers pan CK and EMA may lead to misdiagnosis of Angiomyolipoma to the unwary [9] .…”

“…Microscopically as in our case biphasic pattern of tumor, constituted by large epitheloid cells with voluminous pink cytoplasm and smaller cells centered around hyaline material, so called ‘pseudorosette’ pattern was the most common pattern. Published literature also shows that the most distinctive immunohistochemical feature of t(6;11) translocation RCC is nuclear staining for TFEB protein [10–12] . Argani et al [2] detected strong nuclear TFEB labeling in all seven RCCs with t(6;11) translocation studied, in contrast to 1089 other unrelated neoplasms and normal tissues that showed negativity for nuclear labeling of this protein.…”

MiT translocation renal cell carcinomas: two subgroups of tumours with translocations involving 6p21 [t (6; 11)] and Xp11.2 [t (X;1 or X or 17)]

“…Citations of articles used in the table: Argani et al 2007 Rais-Bahrami et al 2007 LaGrange et al 2007 Franzini et al 2007 Hora et al 2008 Camparo et al 2008 Hora et al 2009 Suarez-Vilela et al 2011, Koie et al 2009 Armah et al 2009 Kuroda et al 2010 Choueiri et al 2010 Ishihara et al 2011 Liu et al 2011 Nelius et al 2011 Numakura et al 2011, Kato et al 2011 Klatte et al 2012 Morii et al 2012 Rao et al 2012 Inamura et al 2012 Arnoux et al 2012 Komai et al 2009 Gaillot-Durand et al 2013.…”

“…This tumour harbours translocations involving the transcription factor EB (TFEB) and Alpha (the latter also known as MALATI ). Genetically, TFEB RCC has been characterized by the fusion of the 5’ portion of Alpha , also known as MALATI (Genbank accession number AF203815), an intronless gene mapped at 11q12, with TFEB at 6p21 Inamura et al 2012; Rao et al 2012 with fewer than 30 cases reported to date Hora et al 2009; Inamura et al 2012; Rao et al 2012; Camparo et al 2008; Suarez-Vilela et al 2011. First 11 cases were reviewed by Hora et al 2009, cases published since 2007 are summarised in Table 1.…”