Aggressive and nonaggressive translocation t(6;11) renal cell carcinoma: Comparative study of 6 cases and review of the literature - Abstract

t(6;11) renal cell carcinoma (RCC) has been recognized as a rare and mostly nonaggressive tumor (NAT).

The criteria for distinguishing aggressive tumors (AT) from NATs are not well established. A total of 6 cases were selected for the study. Five cases of t(6;11) RCCs behaved nonaggressively, and 1 was carcinoma with aggressive behavior. The tumors were analyzed morphologically using immunohistochemistry and by molecular-genetic methods. The specimen of aggressive t(6;11) RCC was from a 77-year-old woman who died of the disease 2.5 months after diagnosis. The specimens of nonaggressive t(6;11) RCCs were from 3 women and 2 men whose ages range between 15 and 54 years. Follow-up was available in all cases (2.5 months-8 years). The tumor size ranged from 3 to 14 cm in nonaggressive t(6;11) RCC. In the aggressive carcinoma, the tumor size was 12 cm. All tumors (6/6) were well circumscribed. Aggressive t(6;11) RCC was widely necrotic. Six (100%) of 6 all tumors displayed a solid/alveolar architecture with occasional tubules and pseudorosettes. Pseudopapillary formations lined by bizarre polymorphic cells were found focally in the aggressive t(6;11) RCC case. Mitoses, though rare, were found as well. All cases (AT and NAT) were positive for HMB-45, Melan-A, Cathepsin K, and cytokeratins. CD117 positivity was seen in 4 of 5 NATs, as well as in the primary and metastatic lesions of the AT. mTOR was positive in 2 of 5 NATs and vimentin in 4 of 5 NATs. Vimentin was negative in the primary lesion of the AT, as well as in the metastasis found in the adrenal gland. Translocation t(6;11)(Alpha-TFEB) or TFEB break was detected in 4 of 5 NATs and in the AT case. Aggressive tumor showed amplification of TFEB locus. Losses of part of chromosome 1 and chromosome 22 were found in 1 of 5 NATs and in the AT.

CONCLUSIONS: (1) Aggressive t(6;11) RCCs generally occur in the older population in comparison with their indolent counterparts. (2) In regard to the histologic findings in ATs, 3 of 5 so far published cases were morphologically not typical for t(6;11) RCC. Of the 3 cases, 2 cases lacked a small cell component and 1 closely mimicked clear cell-type RCC. (3) Necroses were only present in aggressive t(6;11) RCC. (4) Amplification of TFEB locus was also found only in the aggressive t(6;11) RCC.

Written by:
Peckova K, Vanecek T, Martinek P, Spagnolo D, Kuroda N, Brunelli M, Vranic S, Djuricic S, Rotterova P, Daum O, Kokoskova B, Vesela P, Pivovarcikova K, Bauleth K, Dubova M, Kalusova K, Hora M, Michal M, Hes O.   Are you the author?
Department of Pathology, Faculty of Medicine, University Hospital Plzeň, Charles University, Pilsen, Czech Republic; Department of Pathology, PathWest Laboratory Medicine WA, Nedlands, Australia; Department of Diagnostic Pathology, Kochi Red Cross Hospital, Kochi, Japan; Department of Pathology and Diagnostic, University of Verona, Verona, Italy; Department of Pathology, Clinical Center of the University of Sarajevo, Sarajevo, Bosnia and Herzegovina; Department of Pathology, Mother and Child Health Institute of Serbia, Belgrade, Serbia; Department of Urology, Faculty of Medicine in Plzeň, Charles University in Prague, Pilsen, Czech Republic; Department of Pathology, Faculty of Medicine, University Hospital Plzeň, Charles University, Pilsen, Czech Republic; Biomedical Centre, Faculty of Medicine in Plzen, Charles University in Prague, Pilsen, Czech Republic.  

Reference: Ann Diagn Pathol. 2014 Dec;18(6):351-7.
doi: 10.1016/j.anndiagpath.2014.10.002


PubMed Abstract
PMID: 25438924

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