TFEB rearranged renal cell carcinoma. A clinicopathologic and molecular study of 13 cases. Tumors harboring MALAT1-TFEB, ACTB-TFEB, and the novel NEAT1-TFEB translocations constantly express PDL1.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc
Anna CaliòGuido Martignoni

Abstract

Renal cell carcinomas with t(6;11) chromosome translocation has been classically characterized by the rearrangement of the TFEB gene, located on chromosome 6, and MALAT1 gene, located on chromosome 11. Recently, a few other genes have been described as fusion partners in TFEB rearranged renal cell carcinomas. Although most of TFEB rearranged renal cell carcinomas have an indolent behavior, in the rare cases of advanced metastatic disease targeted therapy and predictive markers remain lacking. In the present study, we collected 13 TFEB rearranged renal cell carcinomas, confirmed by FISH, analyzing their morphology and exploring the novel gene partners. Looking for predictive markers, we have also performed PDL1 immunohistochemical analysis by using four different assays (E1L3N, 22C3, SP142, and SP263). MALAT1 gene rearrangement has been found in ten tumors, five cases showing classical biphasic morphology with "rosettes", five cases without "rosettes" mimicking other renal cell carcinomas or epithelioid angiomyolipoma/pure epithelioid PEComa. We identified two different partner genes, ACTB and NEAT1, the latter previously unreported and occurring in a tumor with an unusual solid and cystic appearance. In both cases, the "rosette...Continue Reading

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Oct 31, 2018·Frontiers in Genetics·Peixin DongHidemichi Watari
Jan 10, 2019·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Jianming PeiShuanzeng Wei
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Oct 11, 2019·The American Journal of Surgical Pathology·Sounak GuptaVictor E Reuter

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Citations

Jun 21, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Shuko HaradaAlexander C Mackinnon
Jul 16, 2021·Molecular Neurobiology·Jiakai ChenMengliang Zhou
Jul 16, 2021·Current Problems in Cancer·Bradley R WebsterRamaprasad Srinivasan

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