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isb-cgc.bsky.social
The quarterly release of the Mitelman Database is available! Check out the 78,294 cases and 34,096 gene fusions with 14,078 genes involved at bit.ly/mitelmandb
#CancerResearch #genefusion #cytogenetic
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October 16, 2024 at 4:47 PM
isb-cgc.bsky.social
Mitelman Database new feature alert! Includes: Circos plot data visualizations to view copy number and gene fusion cohorts, also view morphology and topography distributions for your target gene fusion. See them at bit.ly/mitelmandb
#CancerResearch #genefusion #cytogenetic
Mitelman Database Chromosome Aberrations and Gene Fusions in Cancer
The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor character...
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January 8, 2025 at 7:19 PM
isb-cgc.bsky.social
The Mitelman Database has a redesigned landing page! This includes a new count, unique cytogenetic aberrations, along with previous counts: cytogenetic cases, unique gene fusions, & genes involved. Check it out at bit.ly/mitelmandb
#CancerResearch #genefusion #cytogenetic
Mitelman Database Chromosome Aberrations and Gene Fusions in Cancer
The information in the Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer relates cytogenetic changes and their genomic consequences, in particular gene fusions, to tumor character...
bit.ly
December 4, 2024 at 4:55 PM
cancers-mdpi.bsky.social
🎯Editor's Choice
#TFE3-Rearranged and TFEB-Altered #Renal Cell Carcinomas: Molecular Landscape and Therapeutic Advances
🧑‍⚕️by Mikel Portu Grive, Mario Balsa et al.
Full text➡️ www.mdpi.com/2072-6694/18...
#MiTRCC #GeneFusion #ICI #CancersMDPI
Figure 1. Integrated mechanistic model of MiT-RCC driven by TFE3 and TFEB alterations. In TFE3-rearranged RCC, most fusions join a 5′ partner gene to the 3′ portion of TFE3, preserving the C-terminal DNA-binding and dimerization domains and promoting constitutive nuclear activity; TFEB-rearranged tumors are driven by analogous transcriptional deregulation, whereas TFEB-amplified RCC is biologically distinct. These events activate a core MiT/TFE transcriptional program that rewires tumor cell metabolism and stress-adaptation pathways. In fusion-driven translocation RCC (tRCC), TFE3/TFEB fusions induce upregulation of PPARGC1A (PGC-1α), promoting mitochondrial biogenesis and increased dependency on oxidative phosphorylation (OXPHOS), which creates context-specific metabolic vulnerabilities. In parallel, sustained activation of the mTOR-lysosome axis enhances lysosomal biogenesis and autophagy, supporting tumor survival under metabolic stress and reflecting partial uncoupling of MiT/TFE activity from canonical nutrient-sensing control. Crosstalk with hypoxia signaling through the EGLN1 (PHD2)-HIF-1α axis enables adaptive metabolic switching and, in selected molecular contexts, promotes angiogenic signaling, providing a biological rationale for combined vascular endothelial growth factor (VEGF)-targeted and immune checkpoint inhibitor (ICI) therapies, particularly in angiogenic/stromal-high subtypes such as ASPSCR1::TFE3 tumors. Fusion partner identity shapes transcriptional programs, clinical behavior, and therapeutic responsiveness. A distinct inset highlights TFEB-amplified RCC, characterized by increased TFEB copy number within the 6p21 amplicon and frequent co-amplification of VEGFA (±CCND3), driving a highly angiogenic but biologically heterogeneous phenotype that is not obligatorily aligned with the OXPHOS-driven tRCC model. Arrows indicate proposed mechanistic relationships and downstream effects.
September 2, 2026 at 7:37 AM
isb-cgc.bsky.social
The quarterly release of the Mitelman Database is available! Check out the 77,850 cases and 34,009 gene fusions with 14,065 genes involved at bit.ly/mitelmandb #CancerResearch #genefusion #cytogenetic
Dark blue text on a blue background reading Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer Quarterly Update Total Case: 77,578 Total Gene Fusions: 33,895 Total Involved Genes: 14,053
July 17, 2024 at 5:20 PM
isb-cgc.bsky.social
The quarterly release of the Mitelman Database is available! Check out the 77,578 cases and 33,895 gene fusions with 14,053 genes involved at bit.ly/mitelmandb #CancerResearch #genefusion #cytogenetic
Dark blue text on a blue background reading Mitelman Database of Chromosome Aberrations and Gene Fusions in Cancer Quarterly Update Total Case: 77,578 Total Gene Fusions: 33,895 Total Involved Genes: 14,053
April 17, 2024 at 3:44 PM
rarediseaseadvisor.bsky.social
A TMEM91::TAL1 gene fusion was found for the first time in a patient with #MyelodysplasticSyndrome (MDS) progressing to secondary acute myeloid leukemia (#sAML), researchers reported in Hematology.

Read more: https://bit.ly/3L6cR4h

#RareDisease #GeneFusion #MDS #Hematology
Novel Gene Fusion Detected in Patient With MDS
Previously detected in glioblastoma, the TMEM91::TAL1 gene fusion has not been documented in myelodysplastic syndromes (MDS) until now.
www.rarediseaseadvisor.com
December 19, 2025 at 6:53 PM