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ORIGINAL ARTICLE Renal Carcinomas With the t(6;11)(p21;q12) Clinicopathologic Features and Demonstration of the Specific Alpha-TFEB Gene Fusion by Immunohistochemistry, RT-PCR, and DNA PCR Pedram Argani, MD,* Marick Lae´, MD,† Brian Hutchinson, MA,† Victor E. Reuter, MD,† k k Margaret H. Collins, MD,‡ John Perentesis, MD,§ John E. Tomaszewski, MD, John S. J. Brooks, MD, Geza Acs, MD, Julia A. Bridge, MD,{ Sara O. Vargas, MD,# Ian J. Davis, MD,** David E. Fisher, MD, PhD,** and Marc Ladanyi, MD† genomic Alpha-TFEB junction detected by DNA PCR to be identical Abstract: A highly distinctive subset of renal neoplasms of children to the Alpha-TFEB fusion mRNA detected by RT-PCR. In summary, and young adults contains a t(6;11)(p21;q12), a translocation recently renal neoplasms with the t(6;11) are a distinctive neoplastic entity been shown to result in fusion of Alpha, a gene on 11q12, with the with many similarities to the Xp11 translocation carcinomas, and transcription factor gene TFEB on 6p21. To define the clinicopatho- together with the latter form a growing ‘‘MiTF/TFE family’’ of logic spectrum of this nascent entity and to establish immunohis- translocation carcinomas. Nuclear immunoreactivity for TFEB tochemical (IHC) and molecular methods for the detection of the protein is a
American Journal of Surgical Pathology – Wolters Kluwer Health
Published: Feb 1, 2005
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