Skip Navigation LinksHome > September 2012 - Volume 36 - Issue 9 > Renal Cell Carcinomas With t(6;11)(p21;q12): A Clinicopathol...
American Journal of Surgical Pathology:
doi: 10.1097/PAS.0b013e31825aafb5
Original Articles

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*

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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.

© 2012 Lippincott Williams & Wilkins, Inc.


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