ArticleThe American journal of surgical pathology2019
TFEB Expression Profiling in Renal Cell Carcinomas: Clinicopathologic Correlations.
Article in The American journal of surgical pathology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 2 of them syntheses that pooled it.
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Who cites it
21 citing papers in PubMed, 2 syntheses or guidelines pooled it, 56 citations in OpenAlex.
- New developments in existing WHO entities and evolving molecular concepts: The Genitourinary Pathology Society (GUPS) update on renal neoplasia.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Guideline
- Report From the International Society of Urological Pathology (ISUP) Consultation Conference on Molecular Pathology of Urogenital Cancers: III: Molecular Pathology of Kidney Cancer.The American journal of surgical pathology · 2020Guideline
- Review
- Molecularly defined renal cell carcinomas.Reports of practical oncology and radiotherapy : journal of Greatpoland Cancer Center in Poznan and Polish Society of Radiation Oncology · 2026Review
- Renal mass biopsy - a practical and clinicopathologically relevant approach to diagnosis.Nature reviews. Urology · 2025Review
- A clinicopathological and molecular series of five TFEB-altered renal cell carcinoma (RCC) cases: highlighting an aggressive subset of TFEB-rearranged RCC concomitant with TFEB amplification/gene copy number gains.Virchows Archiv : an international journal of pathology · 2024Article
- A rare case of TFEB/6p21/VEGFA-amplified renal cell carcinoma diagnosed by whole-exome sequencing: clinicopathological and genetic feature report and literature review.Diagnostic pathology · 2024Review
- TFEB: a double-edged sword for tumor metastasis.Journal of molecular medicine (Berlin, Germany) · 2023Review
- Clinical Characteristics of Molecularly Defined Renal Cell Carcinomas.Current issues in molecular biology · 2023Review
- Article
- MiT/TFE Family Renal Cell Carcinoma.Genes · 2023Review
- Mitochondrial calcium uniporter activates TFEB-driven autophagy to promote migration of breast cancer cells.Iranian journal of basic medical sciences · 2023Article
- A review of neoplasms with MITF/MiT family translocations.Histology and histopathology · 2022Review
- Diagnostic utility of one-stop fusion gene panel to detect TFE3/TFEB gene rearrangement and amplification in renal cell carcinomas.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- TRIM63 is a sensitive and specific biomarker for MiT family aberration-associated renal cell carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- Review
- 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
- TFEB Promotes Prostate Cancer ProgressionFrontiers in oncology · 2021Article
- Secondary renal neoplasia following chemotherapy or radiation in pediatric patients.Human pathology · 2020Article
- [Characterization of different renal cell carcinoma entities].Der Urologe. Ausg. A · 2020Review
Corrections and comments
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Authors and funding
21 authors at 5 institutions in 2 countries.
Funding
Abstract
TFEB is overexpressed in TFEB-rearranged renal cell carcinomas as well as in renal tumors with amplifications of TFEB at 6p21.1. As recent literature suggests that renal tumors with 6p21.1 amplification behave more aggressively than those with rearrangements of TFEB, we compared relative TFEB gene expression in these tumors. This study included 37 TFEB-altered tumors: 15 6p21.1-amplified and 22 TFEB-rearranged (including 5 cases from The Cancer Genome Atlas data set). TFEB status was verified using a combination of fluorescent in situ hybridization (n=27) or comprehensive molecular profiling (n=13) and digital droplet polymerase chain reaction was used to quantify TFEB mRNA expression in 6p21.1-amplified (n=9) and TFEB-rearranged renal tumors (n=19). These results were correlated with TFEB immunohistochemistry. TFEB-altered tumors had higher TFEB expression when normalized to B2M (mean: 168.9%, n=28), compared with non-TFEB-altered controls (mean: 7%, n=18, P=0.005). Interestingly, TFEB expression in tumors with rearrangements (mean: 224.7%, n=19) was higher compared with 6p21.1-amplified tumors (mean: 51.2%, n=9; P=0.06). Of note, classic biphasic morphology was only seen in TFEB-rearranged tumors and when present correlated with 6.8-fold higher TFEB expression (P=0.00004). Our results suggest that 6p21.1 amplified renal tumors show increased TFEB gene expression but not as much as t(6;11) renal tumors. These findings correlate with the less consistent/diffuse expression of downstream markers of TFEB activation (cathepsin K, melan A, HMB45) seen in the amplified neoplasms. This suggests that the aggressive biological behavior of 6p21.1 amplified renal tumors might be secondary to other genes at the 6p21.1 locus that are co-amplified, such as VEGFA and CCND3, or other genetic alterations.
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