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Int J Clin Exp Pathol 2013;6(7):1452-1457

Case Report
Renal cell carcinomas with t(6;11)(p21;q12) presenting with tubulocystic renal cell
carcinoma-like features

Qiu Rao, Xiu-Mei Zhang, Pin Tu, Qiu-Yuan Xia, Qin Shen, Xiao-Jun Zhou, Qun-Li Shi

Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, China

Received May 16, 2013; Accepted May 31, 2013; Epub June 15, 2013; Published July 1, 2013

Abstract: In this study, we reported an additional genetically confirmed case of renal cell carcinomas (RCCs) with t(6;11)(p21;q12) showing an
unusual histological pattern. Histologically, the tumor was entirely composed of small to intermediate sized tubules and cysts. The tubules and
cysts were lined by a single layer of flat, hobnail, cuboidal to columnar epithelial cells. Most cells demonstrated abundant eosinophilic
cytoplasm with regular, round or oval nuclei and some inconspicuous nucleoli. All these morphological features are suggestive of tubulocystic
carcinoma of the kidney. However, the tumor demonstrated moderately (2+) or strongly (3+) positive staining for TFEB, Cathepsin K,
Ksp-cadherin, and vimentin but negative for TFE3, CD10, HMB45, melan A, CKpan, and CK7. Using a recently developed TFEB split FISH
assay, the presence of TFEB rearrangement was demonstrated. Our results support the clinical application of a TFEB break-apart FISH assay
for diagnosis and confirmation of TFEB RCC and further expand the morphologic spectrum that may be present in these neoplasms,
sometimes raising a challenging differential diagnosis with other renal tumors. (IJCEP1305023).

Keywords: Kidney, translocation, renal carcinomas with t(6;11)(p21;q12), TFEB, cathepsin K, fluorescence in situ hybridization (FISH),
molecular genetics, differential diagnosis

Address correspondence to: Dr. Qun-Li Shi, Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine,
Nanjing, China. Tel: 86-25-80860191; Fax: 86-25-80860191; E-mail: shiqunli2011@126.com