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GENE:

IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)

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Other names: HEL-216, HEL-S-26, Epididymis Luminal Protein 216, Isocitrate Dehydrogenase 1 (NADP+), Epididymis Secretory Protein Li 26, IDH1, Isocitrate Dehydrogenase (NADP(+)) 1, Isocitrate Dehydrogenase 1 (NADP+), Soluble
1d
Diffusion-weighted imaging and dynamic susceptibility contrast-enhanced perfusion-weighted imaging of the non-enhancing peritumoural region predict overall survival in glioblastoma. (PubMed, Clin Radiol)
Preoperative rADCmin-p and rCBVmax-p in NEPR serve as crucial imaging markers that correlate with long- and short-term OS in patients with IDH-wildtype GBM after GTR.
Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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IDH wild-type
2d
Primary Gliosarcoma With Mesenchymal Differentiation Resembling Follicular Dendritic Cell Sarcoma. (PubMed, Neuropathology)
This case represents the first documented instance of primary gliosarcoma with FDCS differentiation, thereby expanding its known differentiation spectrum. Furthermore, it demonstrates the necessity of separately analyzing each histological component in the diagnosis of challenging cases.
Journal
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EGFR (Epidermal growth factor receptor) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR1 (Fibroblast growth factor receptor 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • MGMT (6-O-methylguanine-DNA methyltransferase) • TERT (Telomerase Reverse Transcriptase) • KDR (Kinase insert domain receptor) • ERBB4 (erb-b2 receptor tyrosine kinase 4) • CR1 (Complement C3b/C4b Receptor 1) • FCER2 (Fc Fragment Of IgE Receptor II) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
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EGFR mutation • EGFR amplification • PTEN mutation • KIT mutation • MGMT promoter methylation • PDGFRA mutation
3d
Targeted analysis of KRAS and CREBBP mutations uncovers a potential population-specific signature in thai patients with liver fluke-associated cholangiocarcinoma. (PubMed, PLoS One)
Polymorphism co-occurrence patterns indicate a relatively low mutational burden, with epigenetic dysregulation and oncogenic signaling representing central mechanisms in iCCA development. Further large-scale studies integrating tissue and circulating DNA analyses are warranted to validate these findings and identify clinically actionable biomarkers in iCCA.
Journal • Tumor mutational burden
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CREBBP (CREB binding protein) • GZMB (Granzyme B)
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TP53 mutation • KRAS mutation • TP53 wild-type • TMB-L
3d
Trial completion date • Trial primary completion date
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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IDH1 R132
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Tibsovo (ivosidenib)
3d
Single cell long read genotyping of transcripts reveals discrete mechanisms of clonal evolution in post-MPN AML. (PubMed, Blood Adv)
In our analysis of post-MPN AMLs, we identified nine mutated loci across six genes (JAK2, IDH1/2, TP53, SRSF2, U2AF1) and linked these mutations to specific transcriptional phenotypes. Overall, LOTR-Seq provides novel insights into the evolution of post-MPN AML.
Journal • Tumor mutational burden • JAK2V617F
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • JAK2 (Janus kinase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1)
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TP53 mutation • SRSF2 mutation
3d
Liquid Biopsy in Primary CNS Tumors: Bridging Biology, Technology, and Clinical Care. (PubMed, Mol Diagn Ther)
While CSF remains the optimal matrix for diagnosis and characterization, advances in ultrasensitive detection methods increasingly support the feasibility of plasma and urine for longitudinal follow-up. Integrating liquid biopsy with advanced imaging and tissue-based data will likely transform diagnostic accuracy, therapeutic decision-making, and real-time monitoring of CNS tumors.
Review • Journal • Liquid biopsy
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BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • MYCN (MYCN Proto-Oncogene BHLH Transcription Factor) • ATRX (ATRX Chromatin Remodeler)
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MYCN amplification
3d
Genetic mutations governing ferroptosis sensitivity and resistance: a precision approach to cancer therapy. (PubMed, Cell Death Dis)
The study further examines how oncogenic mutations in genes like EGFR, KRAS, TP53, KEAP1, and IDH1 reshape ferroptosis susceptibility or resistance through alterations in metabolic pathways, redox homeostasis, and tumor microenvironment interactions. By highlighting mutation-specific sensitivities, this work underscores the potential of ferroptosis-targeted strategies to surmount therapeutic resistance, synergize with conventional treatments like chemotherapy and immunotherapy, and drive precision oncology forward, paving the way for enhanced clinical outcomes across a broad spectrum of cancers.
Review • Journal • IO biomarker
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • KEAP1 (Kelch Like ECH Associated Protein 1) • GPX4 (Glutathione Peroxidase 4)
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TP53 mutation • KRAS mutation • EGFR mutation • KEAP1 mutation
5d
Novel IDH1-Targeting Fluorescent Probe Enables Intraoperative Visualization and Resection of Glioblastoma. (PubMed, Anal Chem)
Our study established a novel glioblastoma imaging strategy by targeting the IDH1 enzyme, offering a promising alternative approach for fluorescence-guided tumor resection in GBM patients exhibiting high IDH1 expression. Additionally, the probe QM-SO3H can also serve as a valuable visualization tool for investigating IDH1-associated pathophysiology.
Journal
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EGFR (Epidermal growth factor receptor) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CD36 (thrombospondin receptor)
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IDH wild-type
5d
Clinical Characteristics, Gene Mutation Profiles and Prognosis of Patients With Acute Myeloid Leukemia Carrying PHF6 Mutations. (PubMed, Cancer Med)
This study provides clinical evidence for prognosis assessment in PHF6-mutated AML, enabling more precise risk stratification, individualized treatment, and further pathogenesis research.
Retrospective data • Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • RUNX1 (RUNX Family Transcription Factor 1) • PHF6 (PHD Finger Protein 6)
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IDH2 mutation • RUNX1 mutation
5d
Integrated DNA and RNA profiling refines prognostic stratification independent of therapeutic actionability in cholangiocarcinoma. (PubMed, BMC Cancer)
Integrated genomic and transcriptomic profiling refines prognostic stratification in cholangiocarcinoma independent of therapeutic actionability. KRAS-TP53 co-mutation and the Mesenchymal transcriptomic subtype represent independent high-risk markers detectable on routine FFPE tissue. These features complement actionable alterations and may inform patient selection and clinical trial design.
Journal • MSi-H Biomarker • IO biomarker
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HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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TP53 mutation • KRAS mutation • MSI-H/dMMR • HER-2 amplification • IDH1 mutation • FGFR2 mutation • FGFR2 fusion
6d
Clear Cell Chondrosarcoma With Somatic VHL Inactivation: A Case Report With Integrated Genomic and Transcriptomic Analysis. (PubMed, Genes Chromosomes Cancer)
To our knowledge, this report is the first to describe a molecularly profiled CCC with somatic VHL inactivation. These results expand the evolving genomic spectrum of CCC beyond its previously known IDH-wildtype status and suggest that VHL pathway dysregulation may contribute to tumorigenesis in a subset of cases.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • COL2A1 (Collagen Type II Alpha 1 Chain)
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TMB-L • VHL mutation • IDH wild-type
7d
Safety & Efficacy of DC Vaccine and TMZ for the Treatment of Newly-diagnosed Glioblastoma After Surgery (clinicaltrials.gov)
P1, N=11, Completed, Beijing Tiantan Hospital | Active, not recruiting --> Completed | Trial completion date: Dec 2028 --> Oct 2025
Trial completion • Trial completion date
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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IDH wild-type
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temozolomide