Kidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3
2016-08-01 Pedram Argani Affiliation1.Department of Pathology, The Johns Hopkins Hospital, Baltimore MD (PA) [email protected]
Summary
t(X;1)(p11;q21) (G banding) - Courtesy Francois Desangles.
Abstract
Review on Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3, with data on clinics, and the genes involve
Classification
Classification
Xp11 translocation renal cell carcinoma (RCCs) harbor gene fusions involving TFE3 transcription factor. The The t(6;11) RCCs harbor a specific MALAT1 (Alpha) - TFEB gene fusion. TFEB and TFE3 belong to the same MiT subfamily of transcription factors. Because of similarities at the clinical, morphologic, immunohistochemical, and genetic levels, the Xp11 translocation RCCs and t(6;11) RCCs are currently grouped together under the category of MiT family translocation renal cell carcinoma.)
Clinics and Pathology
Phenotype stem cell origin
t(X;1) (p11;q21) PRCC/TFE3 is found in Xp11 translocation renal cell carcinoma.
Epidemiology
Approximately 40 reported cases, median age 20 yrs (range 2-69); sex ratio: 17M/20F. A subset of cases has been associated with prior exposure to cytotoxic chemotherapy.
Pathology
PRCC frequently have papillary architecture with clear cytoplasm and abundant psammoma bodies. Other cases are nested and mimic clear cell RCC.
Treatment
Radical nephrectomy.
Prognosis
Similar to that of others papillary renal cell carcinoma.
Cytogenetics
Probes
TFE3 and PRCC/TFE3
Additional anomalies
+17.
Genes Involved and Proteins
Gene name
TFE3 (transcription factor E3)
Location
Xp11.23
Protein description
Transcription factor; binds to the immunoglobulin enhancer.
Gene name
PRCC (papillary renal cell carcinoma)
Location
1q23.1
Protein description
491aa; widely expressed; proline rich.
Result of the chromosomal anomaly
Description
5 TFE3 - 3 PRCC and 5 PRCC - 3 TFE3
Detection protocole
positional cloning; screening in a tumor cDNA library and hybridization with TFE3
Description
PRCC/TFE3 fusion protein includes the transcription activating, helix-loop-helix and leucine-zipper domains of TFE3; the TFE3/PRCC fusion protein (513 amino acids) is also expressed.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 25048860 | 2014 | Molecular genetics and cellular features of TFE3 and TFEB fusion kidney cancers. | 107 |
| 38386415 | 2024 | Comparative genomics incorporating translocation renal cell carcinoma mouse model reveals molecular mechanisms of tumorigenesis. | 77 |
| 35452181 | 2022 | Both SUMOylation and ubiquitination of TFE3 fusion protein regulated by androgen receptor are the potential target in the therapy of Xp11.2 translocation renal cell carcinoma. | 64 |
| 40148585 | 2025 | TFE3 fusions drive oxidative metabolism and ferroptosis resistance in translocation renal cell carcinoma. | 62 |
| 33019842 | 2021 | PRCC-TFE3 fusion-mediated PRKN/parkin-dependent mitophagy promotes cell survival and proliferation in PRCC-TFE3 translocation renal cell carcinoma. | 58 |
| 31043488 | 2019 | TFE3 Xp11.2 Translocation Renal Cell Carcinoma Mouse Model Reveals Novel Therapeutic Targets and Identifies GPNMB as a Diagnostic Marker for Human Disease. | 57 |
| 35396773 | 2022 | Targeting chemoresistance in Xp11.2 translocation renal cell carcinoma using a novel polyamide-chlorambucil conjugate. | 54 |
| 39807625 | 2025 | HIF1α Plays a Crucial Role in the Development of TFE3-Rearranged Renal Cell Carcinoma by Orchestrating a Metabolic Shift Toward Fatty Acid Synthesis. | 54 |
| 23288701 | 2013 | Combining integrated genomics and functional genomics to dissect the biology of a cancer-associated, aberrant transcription factor, the ASPSCR1-TFE3 fusion oncoprotein. | 51 |
| 31433528 | 2020 | Genetic diversity in alveolar soft part sarcoma: A subset contain variant fusion genes, highlighting broader molecular kinship with other MiT family tumors. | 47 |
| 34917511 | 2021 | Xp11.2 Translocation Renal Cell Carcinoma With TFE3 Rearrangement: Distinct Morphological Features and Prognosis With Different Fusion Partners. | 46 |
| 26975036 | 2016 | TFE3-Fusion Variant Analysis Defines Specific Clinicopathologic Associations Among Xp11 Translocation Cancers. | 44 |
| 39727945 | 2024 | ARID2 Deficiency Enhances Tumor Progression via ERBB3 Signaling in TFE3-Rearranged Renal Cell Carcinoma. | 44 |
| 31006167 | 2019 | MicroRNA-204-5p: A novel candidate urinary biomarker of Xp11.2 translocation renal cell carcinoma. | 43 |
| 28949976 | 2017 | PRCC-TFE3 dual-fusion FISH assay: A new method for identifying PRCC-TFE3 renal cell carcinoma in paraffin-embedded tissue. | 42 |
| 41843980 | 2026 | The Cyclin C-CDK8/19 Mediator kinase module controls PRCC-TFE3 driven senescence in renal epithelium and tumorigenesis in TFE3-RCC. | 41 |
| 36816933 | 2023 | Clinical and pathological heterogeneity of four common fusion subtypes in Xp11.2 translocation renal cell carcinoma. | 40 |
| 35118587 | 2022 | Phenotypical screening on metastatic PRCC-TFE3 fusion translocation renal cell carcinoma organoids reveals potential therapeutic agents. | 37 |
| 28415646 | 2017 | Combination of immunohistochemistry, FISH and RT-PCR shows high incidence of Xp11 translocation RCC: comparison of three different diagnostic methods. | 27 |
| 39815310 | 2025 | TFE3-rearranged perivascular epithelioid cell tumors of the head and neck with rare fusion partners: clues to the differential diagnosis between benign and malignant tumors. | 27 |
| 38975712 | 2024 | Unusual PEComa With PRCC :: TFE3 Fusion Mimicking Sinonasal Tract Melanoma. | 24 |
| 30787990 | 2019 | Xp11.2 translocation/TFE3 gene fusion renal cell carcinoma with a micropapillary pattern: cases report and literature review. | 21 |
| 40510143 | 2025 | Case Report: Extrarenal TFE3 fusion-related renal cell carcinoma. | 14 |
| 32339358 | 2020 | PRCC-TFE3 regulates migration and invasion of translocation renal cell carcinomas via activation of Drp1-dependent mitochondrial fission. | 0 |
| 38740306 | 2024 | Exploring G-quadruplex structure in PRCC-TFE3 fusion oncogene: Plausible use as anti cancer therapy for translocation Renal cell carcinoma (tRCC). | 0 |
| 37580017 | 2023 | AKR1B10 Is a New Sensitive and Specific Marker for Fumarate Hydratase-Deficient Renal Cell Carcinoma. | 0 |
| 42087746 | 2026 | Retroperitoneal Schwannoma with a Novel PRCC::TFE3 Fusion: Expanding the Spectrum of Schwannomas with a TFE3 Gene Rearrangement. | 0 |
| 41215589 | 2025 | Dual activation of autophagy and mTOR by TFE3 fusions promotes tumorigenesis in rearranged renal cell carcinoma. | 0 |
| 41178060 | 2026 | mTOR-mediated upregulation of B7-H3 in MiT/TFE translocation renal cell carcinoma. | 0 |
| 40962858 | 2025 | NMRK2 leads to the depletion of CD8(+)T cells by mediating the enhancement of NAD(+)-SIRT1-CD38 axis in PRCC-TFE3 rRCC. | 0 |
| 12459622 | 2002 | PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). | 0 |
| 37500159 | 2023 | Establishment and Characterization of a TFE3-rearranged Renal Cell Carcinoma Cell Line (FU-UR-2) With the PRCC-TFE3 Fusion Transcript. | 0 |
| 11313942 | 2001 | PRCC, the commonest TFE3 fusion partner in papillary renal carcinoma is associated with pre-mRNA splicing factors. | 0 |
| 41956242 | 2026 | High throughput screening identifies sanguinarine chloride as a multi-faceted therapeutic agent for PRCC-TFE3 rRCC by targeting lactylation-driven VEGFB-VEGFR2 signaling and PMN-MDSC infiltration. | 0 |
| 8872474 | 1996 | The t(X;1)(p11.2;q21.2) translocation in papillary renal cell carcinoma fuses a novel gene PRCC to the TFE3 transcription factor gene. | 0 |
| 12351585 | 2002 | Understanding familial and non-familial renal cell cancer. | 0 |
| 16575003 | 2006 | Translocation carcinomas of the kidney after chemotherapy in childhood. | 0 |
| 32676967 | 2021 | Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa. | 0 |
| 24716915 | 2014 | Asparagus racemosus leaf extract inhibits growth of UOK 146 renal cell carcinoma cell line: simultaneous oncogenic PRCCTFE3 fusion transcript inhibition and apoptosis independent cell death. | 0 |
| 19228722 | 2009 | Adult Xp11 translocation renal cell carcinoma diagnosed by cytogenetics and immunohistochemistry. | 0 |
| 30324243 | 2018 | Monensin induces cell death by autophagy and inhibits matrix metalloproteinase 7 (MMP7) in UOK146 renal cell carcinoma cell line. | 0 |
| 12917640 | 2003 | A novel CLTC-TFE3 gene fusion in pediatric renal adenocarcinoma with t(X;17)(p11.2;q23). | 0 |
| 24309327 | 2014 | Clinical heterogeneity of Xp11 translocation renal cell carcinoma: impact of fusion subtype, age, and stage. | 0 |
| 31400230 | 2020 | Gene fusion analysis in renal cell carcinoma by FusionPlex RNA-sequencing and correlations of molecular findings with clinicopathological features. | 0 |
| 16807766 | 2006 | PRCC-TFE3 renal cell carcinoma in a boy with a history of contralateral mesoblastic nephroma. | 0 |
| 16010549 | 2005 | Renal cell carcinoma in a pediatric patient with an inherited mitochondrial mutation. | 0 |
| 19396149 | 2009 | Cathepsin-K immunoreactivity distinguishes MiTF/TFE family renal translocation carcinomas from other renal carcinomas. | 0 |
| 15316311 | 2004 | Morphologic and molecular characterization of renal cell carcinoma in children and young adults. | 0 |
| 29713041 | 2018 | RNA sequencing of Xp11 translocation-associated cancers reveals novel gene fusions and distinctive clinicopathologic correlations. | 0 |
| 40339759 | 2025 | TFE3/TFEB altered renal cell carcinomas in end-stage renal disease setting: A single institution clinicopathological study of 4 cases. | 0 |
| 21092583 | 2010 | [Clinicopathologic and molecular genetic study of renal cell carcinoma occurring in teenagers]. | 0 |
| 33592266 | 2021 | The positive regulation loop between NRF1 and NONO-TFE3 fusion promotes phase separation and aggregation of NONO-TFE3 in NONO-TFE3 tRCC. | 0 |
| 21602817 | 2011 | Differential expression of cathepsin K in neoplasms harboring TFE3 gene fusions. | 0 |
| 40189028 | 2025 | TFE3-rearranged ossifying fibromyxoid tumors are uniquely negative for glycoprotein non-metastatic melanoma protein B: A study of 13 TFE3-rearranged mesenchymal tumors. | 0 |
| 23224603 | 2012 | A renal epithelioid angiomyolipoma/perivascular epithelioid cell tumor with TFE3 gene break visualized by FISH. | 0 |
| 19563413 | 2009 | Adult-onset renal cell carcinoma associated with Xp11.2 translocations/TFE3 gene fusion with smooth muscle stroma and abnormal vessels. | 0 |
| 21424937 | 2011 | Re-evaluation of histological type by immunohistochemical and genetic study of transcription factors (TFE3 and TFEB) of VHL gene mutation-negative clear cell renal cell carcinoma and other special types of renal tumor. | 0 |
| 12766578 | 2003 | Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
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| 12459622 | 2002 | PRCC-TFE3 renal carcinomas: morphologic, immunohistochemical, ultrastructural, and molecular analysis of an entity associated with the t(X;1)(p11.2;q21). | Argani P et al |
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Citation
Pedram Argani
Kidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3
Atlas Genet Cytogenet Oncol Haematol. 2016-08-01
Online version: http://atlasgeneticsoncology.org/solid-tumor/5009/kidney-renal-cell-carcinoma-with-t(x
Historical Card
1998-03-01 Kidney: Renal cell carcinoma with t(X;1)(p11;q21) PRCC/TFE3 by François Desangles Affiliation
