Renal Cell Carcinoma Associated with t (6;11) Translocation/TFEB Gene Fusion: A Case Report and Review of Literature

Published:August 26, 2022DOI:

      Clinical Practice Points

      • The 6p21 TFEB tRCC is an extremely rare carcinoma. The first case of 6p21 TFEB tRCC was published in 2014. Since then, only no more than 80 additional cases have been described. It is not easy to get the detailed information of this rear RCC. The aim of this study was to report a case of 6p21 TFEB tRCC, compiling clinical, pathological, and follow-up data, to get more comprehensive understanding of this rear disease.


      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'


      Subscribe to Clinical Genitourinary Cancer
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect


        • Bakouny Z
        • Sadagopan A
        • Ravi P
        • et al.
        Integrative clinical and molecular characterization of translocation renal cell carcinoma.
        Cell Rep. 2022; 38110190
        • Argani P
        • Hawkins A
        • Griffin CA
        • et al.
        A distinctive pediatric renal neoplasm characterized by epithelioid morphology, basement membrane production, focal HMB45 immunoreactivity, and t(6;11)(p21.1;q12) chromosome translocation.
        Am J Pathol. 2001; 158: 2089-2096
        • Durinck S
        • Stawiski EW
        • Pavía-Jiménez A
        • et al.
        Spectrum of diverse genomic alterations define non–clear cell renal carcinoma subtypes.
        Nature Genetics. 2015; 47 (2015/01/01): 13-21
        • Geller JI
        • Ehrlich PF
        • Cost NG
        • et al.
        Characterization of adolescent and pediatric renal cell carcinoma: A report from the Children's Oncology Group study AREN03B2.
        Cancer. 2015; 121: 2457-2464
        • Ellati RT
        • Abukhiran I
        • Alqasem K
        • et al.
        Clinicopathologic features of translocation renal cell carcinoma.
        Clin Genitourin Cancer. 2017; 15: 112-116
        • Argani P.
        MiT family translocation renal cell carcinoma.
        Semin Diagn Pathol. 2015; 32: 103-113
        • Argani P.
        Translocation carcinomas of the kidney.
        Genes Chromosomes Cancer. 2022; 61: 219-227
        • Tomlinson GE
        • Nisen PD
        • Timmons CF
        • et al.
        Cytogenetics of a renal cell carcinoma in a 17-month-old child. Evidence for Xp11.2 as a recurring breakpoint.
        Cancer Genet Cytogenet. 1991; 57: 11-17
        • Lopez-Beltran A
        • Scarpelli M
        • Montironi R
        • et al.
        2004 WHO classification of the renal tumors of the adults.
        Eur Urol. 2006; 49: 798-805
        • Moch H
        • Cubilla AL
        • Humphrey PA
        • et al.
        The 2016 WHO classification of tumors of the urinary system and male genital organs-part a: renal, penile, and testicular tumors.
        Eur Urol. 2016; 70: 93-105
        • Zhang C
        • Duan Y
        • Xia M
        • et al.
        TFEB Mediates immune evasion and resistance to mTOR inhibition of renal cell carcinoma via induction of PD-L1.
        Clin Cancer Res. 2019; 25: 6827-6838
        • Caliò A
        • Segala D
        • Munari E
        • et al.
        MiT Family translocation renal cell carcinoma: from the early descriptions to the current knowledge.
        Cancers (Basel). 2019; 11: 1110-1122
        • Nishizawa H
        • Baba M
        • Furuya M
        • et al.
        t(6; 11) renal cell carcinoma. A case report successfully diagnosed by using fluorescence in situ hybridization.
        IJU Case Rep. 2021; 4: 375-378
        • Mendel L
        • Ambrosetti D
        • Bodokh Y
        • et al.
        Comprehensive study of three novel cases of TFEB-amplified renal cell carcinoma and review of the literature: Evidence for a specific entity with poor outcome.
        Genes Chromosomes Cancer. 2018; 57: 99-113
        • Argani P
        • Yonescu R
        • Morsberger L
        • et al.
        Molecular confirmation of t(6;11)(p21;q12) renal cell carcinoma in archival paraffin-embedded material using a break-apart TFEB FISH assay expands its clinicopathologic spectrum.
        Am J Surg Pathol. 2012; 36: 1516-1526
        • Rao Q
        • Zhang XM
        • Tu P
        • et al.
        Renal cell carcinomas with t(6;11)(p21;q12) presenting with tubulocystic renal cell carcinoma-like features.
        Int J Clin Exp Pathol. 2013; 6: 1452-1457
        • Malouf GG
        • Su X
        • Yao H
        • et al.
        Next-generation sequencing of translocation renal cell carcinoma reveals novel RNA splicing partners and frequent mutations of chromatin-remodeling genes.
        Clin Cancer Res. 2014; 20: 4129-4140
        • Durinck S
        • Stawiski EW
        • Pavía-Jiménez A
        • et al.
        Spectrum of diverse genomic alterations define non-clear cell renal carcinoma subtypes.
        Nat Genet. 2015; 47: 13-21
        • Linehan WM
        • Spellman PT
        • Ricketts CJ
        • et al.
        Comprehensive molecular characterization of papillary renal-cell carcinoma.
        N Engl J Med. 2016; 374: 135-145
        • Pei J
        • Cooper H
        • Flieder DB
        • et al.
        NEAT1-TFE3 and KAT6A-TFE3 renal cell carcinomas, new members of MiT family translocation renal cell carcinoma.
        Mod Pathol. 2019; 32: 710-716
        • Davis IJ
        • Hsi BL
        • Arroyo JD
        • et al.
        Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation.
        Proc Natl Acad Sci U S A. 2003; 100: 6051-6056
        • Yang C
        • Li Z
        • Li Y
        • et al.
        Long non-coding RNA NEAT1 overexpression is associated with poor prognosis in cancer patients: a systematic review and meta-analysis.
        Oncotarget. 2017; 8: 2672-2680
        • Ning L
        • Li Z
        • Wei D
        • et al.
        LncRNA, NEAT1 is a prognosis biomarker and regulates cancer progression via epithelial-mesenchymal transition in clear cell renal cell carcinoma.
        Cancer Biomark. 2017; 19: 75-83
        • Steingrímsson E
        • Copeland NG
        • Jenkins NA.
        Melanocytes and the microphthalmia transcription factor network.
        Annu Rev Genet. 2004; 38: 365-411
        • Carr CS
        • Sharp PA.
        A helix-loop-helix protein related to the immunoglobulin E box-binding proteins.
        Mol Cell Biol. 1990; 10: 4384-4388
        • Chao X
        • Wang S
        • Zhao K
        • et al.
        Impaired TFEB-mediated lysosome biogenesis and autophagy promote chronic ethanol-induced liver injury and steatosis in mice.
        Gastroenterology. 2018; 155 (e12): 865-879
        • Sha Y
        • Rao L
        • Settembre C
        • et al.
        STUB1 regulates TFEB-induced autophagy-lysosome pathway.
        Embo j. 2017; 36: 2544-2552
        • Yang B
        • Ding L
        • Chen Y
        • et al.
        Augmenting tumor-starvation therapy by cancer cell autophagy inhibition.
        Adv Sci (Weinh). 2020; 71902847
        • Raben N
        • Puertollano R.
        TFEB and TFE3: linking lysosomes to cellular adaptation to stress.
        Annu Rev Cell Dev Biol. 2016; 32: 255-278
        • Peckova K
        • Vanecek T
        • Martinek P
        • et al.
        Aggressive and nonaggressive translocation t(6;11) renal cell carcinoma: comparative study of 6 cases and review of the literature.
        Ann Diagn Pathol. 2014; 18: 351-357
        • Gupta S
        • Argani P
        • Jungbluth AA
        • et al.
        TFEB expression profiling in renal cell carcinomas: clinicopathologic correlations.
        Am J Surg Pathol. 2019; 43: 1445-1461
        • Caliò A
        • Brunelli M
        • Segala D
        • et al.
        t(6;11) renal cell carcinoma: a study of seven cases including two with aggressive behavior, and utility of CD68 (PG-M1) in the differential diagnosis with pure epithelioid PEComa/epithelioid angiomyolipoma.
        Mod Pathol. 2018; 31: 474-487
        • Escudier B
        • Albiges L
        • Massard C
        • et al.
        How to select amongst available options for the treatment of advanced RCC?.
        Ann Oncol. 2012; 23 (Suppl): x309-x312
        • Bellmunt J
        • Dutcher J.
        Targeted therapies and the treatment of non-clear cell renal cell carcinoma.
        Ann Oncol. 2013; 24: 1730-1740
        • Peña-Llopis S
        • Vega-Rubin-de-Celis S
        • Schwartz JC
        • et al.
        Regulation of TFEB and V-ATPases by mTORC1.
        Embo j. 2011; 30: 3242-3258