ArticleProceedings of the National Academy of Sciences of the United States of America2003
Cloning of an Alpha-TFEB fusion in renal tumors harboring the t(6;11)(p21;q13) chromosome translocation.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 104 papers, 1 of them a synthesis that pooled it.
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Who cites it
104 citing papers in PubMed, 1 synthesis or guideline pooled it, 246 citations in OpenAlex.
- Expression analysis and in silico characterization of intronic long noncoding RNAs in renal cell carcinoma: emerging functional associations.Molecular cancer · 2013Pooled it
- The role of long non-coding RNAs in lung cancer metastasis: Molecular mechanisms, pathogenesis and clinical implications.Clinical and translational medicine · 2025Review
- Paediatric renal tumors: An insight into molecular characteristics, histomorphology and syndromic association.World journal of nephrology · 2025Review
- Combined Effect of Conventional Chemotherapy with Epigenetic Modulators on Glioblastoma.Genes · 2025Article
- Role of long non‑coding RNA leucine‑rich repeat containing 75 A‑antisense RNA1 in the invasion and progression of renal cell carcinoma.Oncology reports · 2025Article
- Breaking paradigms: Long non-coding RNAs forming gene fusions with potential implications in cancer.Genes & diseases · 2024Review
- Article
- Review
- TRPML1 and TFEB, an Intimate Affair.Handbook of experimental pharmacology · 2023Article
- Transcription factor EB as a key molecular factor in human health and its implication in diseases.SAGE open medicine · 2023Review
- Past, present, and future perspectives of transcription factor EB (TFEB): mechanisms of regulation and association with disease.Cell death and differentiation · 2022Review
- Disrupting the MYC-TFEB Circuit Impairs Amino Acid Homeostasis and Provokes Metabolic Anergy.Cancer research · 2022Article
- A review of neoplasms with MITF/MiT family translocations.Histology and histopathology · 2022Review
- Lysosomes in Stem Cell Quiescence: A Potential Therapeutic Target in Acute Myeloid Leukemia.Cancers · 2022Review
- Loss of Hepatic Transcription Factor EB Attenuates Alcohol-Associated Liver Carcinogenesis.The American journal of pathology · 2022Article
- 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 · 2021Article
- Long non-coding RNAs in motor neuron development and disease.Journal of neurochemistry · 2021Review
- TFEB links MYC signaling to epigenetic control of myeloid differentiation and acute myeloid leukemia.Blood cancer discovery · 2021Article
- Multifaceted activities of transcription factor EB in cancer onset and progression.Molecular oncology · 2021Review
- The role of MiT/TFE family members in autophagy regulation.Current topics in biochemical research · 2021Article
44 more citing papers are in PubMed but not listed here.
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
MITF, TFE3, TFEB, and TFEC comprise a transcription factor family (MiT) that regulates key developmental pathways in several cell lineages. Like MYC, MiT members are basic helix-loop-helix-leucine zipper transcription factors. MiT members share virtually perfect homology in their DNA binding domains and bind a common DNA motif. Translocations of TFE3 occur in specific subsets of human renal cell carcinomas and in alveolar soft part sarcomas. Although multiple translocation partners are fused to TFE3, each translocation product retains TFE3's basic helix-loop-helix leucine zipper. We have identified the genes fused by the chromosomal translocation t(6;11)(p21.1;q13), characteristic of another subset of renal neoplasms. In two primary tumors we found that Alpha, an intronless gene, rearranges with the first intron of TFEB, just upstream of TFEB's initiation ATG, preserving the entire TFEB coding sequence. Fluorescence in situ hybridization confirmed the involvement of both TFEB and Alpha in this translocation. Although the Alpha promoter drives expression of this fusion gene, the Alpha gene does not contribute to the ORF. Whereas TFE3 is typically fused to partner proteins in subsets of renal tumors, we found that wild-type, unfused TFE3 stimulates clonogenic growth in a cell-based assay, suggesting that dysregulated expression, rather than altered function of TFEB or TFE3 fusions, may confer neoplastic properties, a mechanism reminiscent of MYC activation by promoter substitution in Burkitt's lymphoma. Alpha-TFEB is thus identified as a fusion gene in a subset of pediatric renal neoplasms.
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