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Renal Cell Carcinomas With t(6;11)(p21;q12): A Clinicopathologic Study Emphasizing Unusual Morphology, Novel Alpha-TFEB Gene Fusion Point, Immunobiomarkers, and Ultrastructural Features, As Well As Detection of the Gene Fusion by Fluorescence In Situ Hybridization

Rao, Qiu MD, PhD*; Liu, Biao MD*; Cheng, Liang MD; Zhu, Yun MD*; Shi, Qun-li MD*; Wu, Bo MD*; Jiang, Shao-jun MD*; Wang, Yan MD*; Wang, Xuan MD*; Yu, Bo MD*; Zhang, Ru-song BSc*; Ma, Heng-hui MD*; Lu, Zhen-feng MD*; Tu, Pin MD*; Wang, Jian-dong MD, PhD*; Zhou, Xiao-jun MD, PhD*

The American Journal of Surgical Pathology: September 2012 - Volume 36 - Issue 9 - p 1327–1338
doi: 10.1097/PAS.0b013e31825aafb5
Original Articles

Renal cell carcinomas (RCCs) with t(6;11)(p21;q12) are extremely rare and characterized by specific chromosome translocation, involving the transcription factor EB (TFEB). Fewer than 30 cases have been described in the literature. We examined 7 additional cases of this rare tumor by clinicopathologic, immunohistochemical, molecular, and ultrastructural analyses. Four tumors had the typical morphologic features of TFEB RCCs, whereas 3 cases demonstrated uncommon morphologic features, mimicking epithelioid angiomyolipoma, chromophobe cell RCC, and clear cell RCC, respectively. Immunohistochemically, aside from TFEB and cathepsin K, kidney-specific cadherin was another sensitive and relatively specific marker for TFEB RCCs, supporting a distal nephron origin for these renal tumors. We also observed different ultrastructures including mitochondrion with areas of lipofuscin pigment in the smaller cells in these cases. An identical Alpha-TFEB fusion gene, 486 bp, was identified in 2 cases. In addition to the polymerase chain reaction method, we also developed a fluorescence in situ hybridization assay to serve as a cost-effective and time-efficient diagnostic tool. We detected a TFEB gene rearrangement in all 7 cases using the fluorescence in situ hybridization method. TFEB RCC seemed to be an indolent tumor. During a mean follow-up of 31 months, none of the cases developed tumor recurrence, progression, or metastasis.

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

Department of Pathology and Laboratory, Indiana University School of Medicine, Indianapolis, IN

Conflicts of Interest and Source of Funding: Supported by National Natural Science Foundation of China (81101933) and Natural Science Foundation of Jiangsu Province, China (BK2010463). The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article.

Correspondence: Xiao-jun Zhou, MD, PhD, Department of Pathology, Nanjing Jinling Hospital, Nanjing University School of Medicine, Nanjing, Jiangsu 210002, China (e-mail: zh_xjzhou81@yahoo.com.cn).

© 2012 Lippincott Williams & Wilkins, Inc.