ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2018
Detection of 6 TFEB-amplified renal cell carcinomas and 25 renal cell carcinomas with MITF translocations: systematic morphologic analysis of 85 cases evaluated by clinical TFE3 and TFEB FISH assays.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 2 of them syntheses that pooled it.
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Who cites it
38 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- 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
- Immunohistochemical expression of GPNMB in TFEB-rearranged and TFEB-amplified renal cell carcinomas.Virchows Archiv : an international journal of pathology · 2026Article
- MITF Gain-of-Function Mutation in Metastatic Prostate Cancer: A Rare Finding With Potential Therapeutic Significance.Cancer reports (Hoboken, N.J.) · 2026Article
- 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
- Metastatic Translocated Renal Cell Carcinoma in a Kidney Transplant Patient - a Case Report and Review of the Literature.International journal of surgical pathology · 2024Review
- Review
- Master Transcription Factor Reprogramming Unleashes Selective Translation Promoting Castration Resistance and Immune Evasion in Lethal Prostate Cancer.Cancer discovery · 2023Article
- Renal Cell Carcinoma of Variant Histology: Biology and Therapies.Hematology/oncology clinics of North America · 2023Review
- A Sarcomatoid Renal Cell Carcinoma with Clear Cell Papillary-Like Primary Tumor and Lymph Node Metastasis: A Diagnostic Conundrum.International journal of surgical pathology · 2023Article
- TFEB: a double-edged sword for tumor metastasis.Journal of molecular medicine (Berlin, Germany) · 2023Review
- High-throughput and targeted drug screens identify pharmacological candidates against MiT-translocation renal cell carcinoma.Journal of experimental & clinical cancer research : CR · 2023Article
- Article
- MiT/TFE Family Renal Cell Carcinoma.Genes · 2023Review
- 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
- What's new in the WHO 2022 classification of kidney tumours?Pathologica · 2022Review
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Abstract
Renal cell carcinomas with MITF aberrations demonstrate a wide morphologic spectrum, highlighting the need to consider these entities within the differential diagnosis of renal tumors encountered in clinical practice. Herein, we describe our experience with application of clinical fluorescence in situ hybridization (FISH) assays for detection of TFE3 and TFEB gene aberrations from 85 consecutive renal cell carcinoma cases submitted to our genitourinary FISH service. Results from 170 FISH assays performed on these tumors were correlated with available clinicopathologic findings. Ninety-eight percent of renal tumors submitted for FISH evaluation were from adult patients. Thirty-one (37%) tumors were confirmed to demonstrate MITF aberrations (21 TFE3 translocation, 4 TFEB translocation, and 6 TFEB amplification cases). Overall, renal cell carcinomas with MITF aberrations demonstrated morphologic features overlapping with clear cell, papillary, or clear cell papillary renal cell carcinomas. Renal cell carcinomas with MITF aberrations were significantly more likely to demonstrate dual (eosinophilic and clear) cytoplasmic tones (P=0.030), biphasic TFEB translocation renal cell carcinoma-like morphology (P=0.002), psammomatous calcifications (P=0.002), and nuclear pseudoinclusions (P=0.001) than renal cell carcinomas without MITF aberrations. Notably, 7/9 (78%) renal cell carcinomas exhibiting subnuclear clearing and linear nuclear array (6 of which showed high World Health Organization/International Society of Urological Pathology nucleolar grade) demonstrated TFE3 translocation, an association that was statistically significant when compared with renal cell carcinomas without MITF aberrations (P=0.009). In this cohort comprising consecutive cases, TFEB-amplified renal cell carcinomas were more commonly identified than renal cell carcinomas with TFEB translocations, and four (67%) of these previously unreported TFEB-amplified renal cell carcinomas demonstrated oncocytic and papillary features with a high World Health Organization/International Society of Urological Pathology nucleolar grade. In summary, TFE3 and TFEB FISH evaluation aids in identification and accurate classification of renal cell carcinomas with MITF aberrations, including TFEB-amplified renal cell carcinoma, which may demonstrate aggressive behavior.
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