Ask about this productRelated genes to: TFE3 antibody
- Gene:
- TFE3 NIH gene
- Name:
- transcription factor binding to IGHM enhancer 3
- Previous symbol:
- -
- Synonyms:
- TFEA, bHLHe33
- Chromosome:
- Xp11.23
- Locus Type:
- gene with protein product
- Date approved:
- 1990-10-16
- Date modifiied:
- 2016-10-05
Related products to: TFE3 antibody
Related articles to: TFE3 antibody
- gene alterations are significant drivers in a subset of renal cell carcinomas (RCCs), associated with high-grade morphology, aggressive behavior, and features overlapping with biphasic hyalinizing psammomatous RCC (BHP RCC). We report two examples of -mutated RCC to advance understanding of this entity. Both were female patients in their sixth decade with incidental, solid renal masses (3.2 and 3.0 cm). Both tumors had high-grade nuclei and infiltrative growth but distinct architectures: tumor #1 showed solid nests, tubules, and a focal BHP RCC-like biphasic pattern; tumor #2 featured solid, elongated tubulotrabeculae with spindling and peritubular basement membrane material. Both had sclerotic stroma. Immunohistochemistry showed positivity for PAX8, keratin 7, vimentin, and AMACR (tumor #2: focal TFE3). Targeted next-generation sequencing identified pathogenic somatic mutations in both tumors: a nonsense mutation (c.235A>T, p.Lys79*) in tumor #1 (validated by Sanger sequencing) and a splice-site mutation (c.600-1G>A) with concurrent chromosome 22 deletion (confirming biallelic inactivation) in tumor #2. Subsequent merlin immunohistochemistry showed loss of expression. / rearrangements were absent. Patient #1 developed widespread metastases within 7 months and received immunotherapy; patient #2 remains disease-free at short-term follow-up. These tumors highlight the broad morphological heterogeneity within -mutated RCC and underscore the necessity of an integrated diagnostic approach combining histology, immunohistochemistry (especially merlin loss), and molecular confirmation. Recognizing this entity is critical for accurate classification and for guiding potential therapeutic strategies, including immune checkpoint inhibitors. - Source: PubMed
Publication date: 2026/05/06
Zhao MingWang JuanjuanWang SuyingFang RongZhang HuizhiLiu Yiyu - Although historically associated with the inactivation of the gene, a minority of schwannomas have recently been found to exhibit fusion transcripts, such as , , or fusions. Herein, we report a large retroperitoneal schwannoma exhibiting a fusion. Histologically, this tumor contained distinctive large epithelioid cells with granular cytoplasm, but also exhibited degenerative features often associated with schwannoma, such as perivascular hyalinization and hemosiderin deposition. The cells were positive for SOX10, showed robust TRIM63 expression, and were focally positive for HMB45. Methylation profiling confirmed that the tumor was of Schwann cell differentiation. Following complete surgical resection, the patient has experienced no recurrence to date. As MiT family translocation-associated renal cell carcinoma and alveolar soft part sarcoma can also exhibit a fusion, awareness of this rare schwannoma subtype is vital in ensuring it is not mistaken for a more aggressive neoplasm. - Source: PubMed
Publication date: 2026/05/06
Perry Kyle DMehra RohitLeathersich AnnAbdulfatah EmanRottmann DouglasSchechter ShulaMcHugh JonathanNarayan Suguna PAngeles Christina VChugh RashmiConway KyleBrown Noah - rearranged Renal cell carcinoma is a newly recognized entity with few reported cases. TFE3 positivity has poor prognosis and requires long term follow up. A 26-year-old woman presented with flank pain since 5 months. CECT revealed an exophytic mass abutting adjacent structures with no infiltration. Radical nephrectomy was done, showing a pale yellow tumour, replacing the kidney. Microscopically the tumour was disposed in papillae composed of clear cells with voluminous cytoplasm. Patient is doing well at 16 months' post-surgery. More studies on the morphology, immunohistochemistry with genetic correlation are needed to determine clinical behaviour, management and prognosis. - Source: PubMed
Publication date: 2026/04/21
Murugesan InduparkaviYadav MahimaKumar UjwalAgarwal PragyaData Sahil - Zinc transporters regulate intracellular zinc homeostasis, but their role in acute lung injury (ALI) or acute respiratory distress syndrome (ARDS) remains underexplored. Here, we show that the zinc transporter SLC39A1 is highly upregulated in alveolar type II (AT2) cells from male murine ALI models and patients with ARDS. AT2-specific Slc39a1 deletion or zinc chelation exacerbates lung injury, whereas overexpression or zinc supplementation attenuates it. Notably, zinc supplementation fails to rescue Slc39a1-deficient mice, indicating SLC39A1 governs zinc uptake to control ALI. Zinc likely directly binds to and activates TFEB, TFE3, and MITF, inducing transcriptional activation of autophagy to eliminate damaged mitochondria and suppress apoptosis/pyroptosis in AT2 cells. Lc3b- or Tfe3-deficient mice show heightened lung injury, which remain unmitigated by zinc supplementation. Importantly, administration of AAV-shLc3b to AT2 Slc39a1-deficient mice did not further aggravate lung injury beyond that caused by either intervention alone. This epistatic relationship places SLC39A1 upstream of autophagy activation within a linear pathway. Collectively, we define an essential role for epithelial SLC39A1 in host defense against ALI/ARDS, which is mediated by a protective zinc-autophagy axis. - Source: PubMed
Publication date: 2026/04/27
Zhang JunZhang KunLi YishiMao LejiaoXu GeFan YinzhenLing HongLi NaLiu ZhihuiGuo ShuliangChen ChengzhiZou Zhen - The MiT/TFE family transcription factors play a critical role in lysosomal biogenesis, autophagy, mitochondrial turnover and lipid catabolism by regulating the Coordinated Lysosomal Expression and Regulation (CLEAR)gene network. The dysregulation of MiT/TFE activity has been implicated in the onset and progression of cancer and neurodegeneration, but its functions in association with pulmonary diseases remain poorly understood. In this review, we systematically summarize the findings from human pulmonary diseases and associated genetic disorders, such as asthma, cancer, Birt-Hogg-Dube (BHD) syndrome, and lung injury models that implicate MiT/TFE dysregulation in pathogenic progression. We also discussed MiT/TFE regulation and signaling through pathways involving mTORC1, AMPK, and lysosomal stress in different cellular contexts. Finally, we discussed significant mechanistic gaps, such as the absence of in vivo models targeting the combined activity of TFEB and TFE3 in disease progression and prevention. In conclusion, these insights seek to offer a comprehensive framework for understanding MiT/TFE signaling in human lung diseases and could present a promising opportunity for directing future mechanistic and translational research. - Source: PubMed
Publication date: 2026/04/18
Singh PriyankaAbor Evans KwabenaShi Wei