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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
2d
Prognostic impact of variant allele frequency in intensively treated patients with NPM1-mutated AML: a PETHEMA study. (PubMed, Blood)
Notably, intra-clonal co-localization of NPM1 with IDH1 or TET2 was associated with improved outcomes, whereas co-localization with WT1 predicted dismal prognosis. These results demonstrate that quantitative and structural dimensions of clonality refine the biological and prognostic landscape of NPM1-mutated AML beyond mutational status alone.
Journal • Tumor mutational burden
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KRAS (KRAS proto-oncogene GTPase) • TMB (Tumor Mutational Burden) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • WT1 (WT1 Transcription Factor)
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NPM1 mutation
2d
Integrating immunohistochemical biomarkers into patient-specific reaction-diffusion models of glioblastoma growth. (PubMed, Phys Med Biol)
In addition, the model generated spatial representations of tumor infiltration extending beyond the visible margins detected by routine MRI, highlighting regions of potential microscopic spread that are not directly observable on standard imaging. Significance: This study presents an exploratory step toward linking routinely acquired pathological biomarkers with physics-based glioblastoma growth modeling, by using standard-of-care MRI and immunohistochemical data, the proposed framework provides a clinically accessible tumor-growth prior that may support future treatment-response modeling, survival analysis, and individualized planning. Further validation in larger independent cohorts and extension to three-dimensional modeling are required before prospective clinical application. .
Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
3d
IDH-mutant adult-type diffuse gliomas: a clinicopathological analysis of 1 301 cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
Compared to supratentorial tumors, non-R132H IDH1 mutations are significantly more frequent in infratentorial tumors. IDH2-mutant gliomas almost exclusively occur in adults and in supratentorial locations, with a significantly higher proportion in oligodendrogliomas than astrocytoma.
Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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IDH1 mutation • IDH2 mutation • IDH1 R132 • IDH2 R172
3d
Supratentorial papillary glioneuronal tumors: a clinicopathological and genetic analysis of six cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
Integrated pathologic-molecular analysis is essential for accurately classifying supratentorial papillary glioneuronal tumors. Classic PGNTs are molecularly defined by recurrent PRKCA fusions, while BRAF-altered cases warrant reclassification.
Journal
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BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • KIAA1549 • SOX10 (SRY-Box 10) • PRKCA (Protein Kinase C Alpha) • SYP (Synaptophysin) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
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BRAF V600E • BRAF V600 • BRAF fusion • IDH1 R132
5d
New P1 trial
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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IDH2 mutation • IDH1 R132 • IDH2 R172
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lomustine • Voranigo (vorasidenib)
5d
Correlation Between 1p19q Status and Various Biomarkers in Selected Central Nervous System Tumors. (PubMed, Cureus)
The detection of 1p19q co-deletion in other tumors and its peculiar relationship with MGMT methylation made us think of the complexity of tumor biology and how both genetic and epigenetic factors interplay to influence tumor behavior and response to therapy.
Journal
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EGFR (Epidermal growth factor receptor) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MGMT (6-O-methylguanine-DNA methyltransferase) • ATRX (ATRX Chromatin Remodeler) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
6d
Trial primary completion date
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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IDH2 mutation • IDH1 R132 • IDH2 R172
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Voranigo (vorasidenib)
6d
Murine modeling of IDH-mutant 1p/19q-codeleted oligodendroglioma reveals genotype specific phenotypes. (PubMed, bioRxiv)
Oligo Cdkn2a tumors displayed metabolic and transcriptional changes associated with IDH and CIC mutations, and single cell sequencing identified a bias towards oligodendrocyte differentiation compared to an IDH wild-type glioblastoma mouse model. Oligo Cdkn2a tumors represent the first mouse model system to recapitulate the genetic, histological and transcriptional features of human IDH-mutant 1p/19q-codeleted oligodendrogliomas, offering a platform to further dissect tumor biology and test new therapeutic strategies.
Preclinical • Journal
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • FUBP1 (Far Upstream Element Binding Protein 1)
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TP53 mutation • IDH wild-type • IDH1 R132
6d
Perampanel as add-on in high-grade glioma-related epilepsy: Seizure control and QoL in a prospective, multicenter, real-world 6-month follow-up study. (PubMed, Epilepsia Open)
Patients with aggressive brain tumors often develop seizures that are difficult to control. In this study, perampanel reduced the number of seizures and did not worsen quality of life, being generally well tolerated. Patient survival was mainly determined by the tumor itself. Larger studies are needed to confirm the drug's effectiveness in reducing seizures, improving quality of life, evaluating survival, and monitoring side effects.
Journal • Real-world evidence
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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IDH1 mutation
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Fycompa (perampanel)
6d
Therapy-related myeloid neoplasms following treatment for high-risk gestational trophoblastic neoplasia: a case series and retrospective analysis. (PubMed, Int J Clin Oncol)
Although combination chemotherapy remains essential for high-risk GTN, exposure to high cumulative doses of etoposide confers a risk of secondary t-MNs. Long-term hematologic surveillance and less leukemogenic strategies are warranted.
Retrospective data • Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • KMT2A (Lysine Methyltransferase 2A)
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MLL rearrangement
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etoposide IV
7d
ErbB Receptor Feedback Inhibitor 1 Mutation in Biliary Tract Cancers: Turning Resistance Into Response. (PubMed, JCO Precis Oncol)
ERRFI1 mutations represent actionable biomarkers in BTC, with EGFR-targeted therapy demonstrating meaningful clinical benefit in this heavily pretreated population. These findings support integration of ERRFI1 testing into routine molecular profiling of BTC and other EGFR-driven malignancies.
Clinical • Journal • IO biomarker
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TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ARID1A (AT-rich interaction domain 1A) • ERRFI1 (ERBB Receptor Feedback Inhibitor 1)
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EGFR mutation
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cisplatin • gemcitabine
9d
CASPR2 antibody-positive glioblastoma-associated pseudoparaneoplastic syndrome: a case report. (PubMed, Front Immunol)
Clinicians should maintain a high index of suspicion for tumor-related processes in patients with neuronal antibody positivity-particularly when antibodies are low-titer, serum-restricted, and clinically discordant-and prioritize dynamic imaging surveillance alongside serial antibody monitoring to avoid diagnostic delay. Further research is warranted to elucidate the mechanisms of GBM-induced immune dysregulation and its implications for neuroimmunological disease.
Journal
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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IDH wild-type