ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2021
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.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 48 citations in OpenAlex.
- 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
- Molecular and therapeutic landscape of non-clear cell renal carcinoma.Nature reviews. Urology · 2025Review
- TFE3-rearranged and TFEB-altered renal cell carcinoma: from classification to real-life. Insights from a national Italian survey.Pathologica · 2025Article
- 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
- Review
- Genomic alterations and diagnosis of renal cancer.Virchows Archiv : an international journal of pathology · 2024Review
- Genomic profiling and molecular characterization of non-clear cell renal cell carcinoma: a narrative review from a clinical perspective.Therapeutic advances in medical oncology · 2024Review
- Cancer fusion transcripts with human non-coding RNAs.Frontiers in oncology · 2024Review
- Article
- Article
- TFEB Rearranged Renal Cell Carcinoma: Pathological and Molecular Characterization of 10 Cases, with Novel Clinical Implications: A Single Center 10-Year Experience.Biomedicines · 2023Article
- Multimodality imaging of Xp11.2 translocation/TFE3 gene fusion associated with renal cell carcinoma: a case report.Frontiers in medicine · 2023Article
- A primary rectal neoplasm with novel DDX5-TFEB fusion.Virchows Archiv : an international journal of pathology · 2022Article
- MiTF/TFE Translocation Renal Cell Carcinomas: From Clinical Entities to Molecular Insights.International journal of molecular sciences · 2022Review
- A review of neoplasms with MITF/MiT family translocations.Histology and histopathology · 2022Review
- WHO 2022 Classification of Kidney Tumors: what is relevant? An update and future novelties for the pathologist.Pathologica · 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
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Authors and funding
10 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
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 "rosettes" were absent. In one case no gene partner was identified. Overall, in 12 of 13 TFEB-rearranged renal cell carcinomas staining for PDL1 SP263 was observed, whereas the other antibodies were less reliable or more difficult to interpret. In conclusion, we described the third case of ACTB-TFEB rearranged renal cell carcinoma and a novel NEAT1-TFEB rearranged renal cell carcinoma, both without the distinctive biphasic morphology typical of t(6;11) renal cell carcinoma. Finally, PDL1 SP263 was constantly expressed in TFEB rearranged renal cell carcinoma with possible clinical benefit which requires further investigations.
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