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    GENE:

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

    i
    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
    15h
    If it is a solid tumor target, then it may be a hematologic cancer target: Bridging the great divide. (PubMed, Med)
    They include larotrectinib/entrectinib/repotrectinib (NTRK fusions), selpercatinib (RET fusions), dabrafenib/trametinib (BRAFV600E mutations), pembrolizumab/dostarlimab (microsatellite instability), pembrolizumab (high tumor mutational burden), and trastuzumab deruxtecan (HER2 3+ expression) (all solid cancers). Pemigatinib is approved for FGFR1-rearranged myeloid/lymphoid neoplasms...For example, BRAFV600E and IDH1/2 mutations; ALK, FGFR, and NTRK fusions; PD-L1 amplification; and CD70 antigens are druggable in both solid and blood malignancies by gene-/immune-targeted therapies/chimeric antigen receptor T cells. Future biomarker-based tissue-agnostic basket studies/approvals should bridge the great divide and include both solid and hematologic cancers.
    Review • Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • ALK (Anaplastic lymphoma kinase) • TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • RET (Ret Proto-Oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR1 (Fibroblast growth factor receptor 1) • CD70 (CD70 Molecule) • NTRK (Neurotrophic receptor tyrosine kinase)
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    BRAF V600E • TMB-H • BRAF V600 • HER-2 expression • RET fusion • FGFR mutation • FGFR fusion • PD-L1 amplification • FGFR1 expression • IDH mutation + BRAF V600E • IDH mutation + NTRK fusion • NTRK fusion
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    Keytruda (pembrolizumab) • Mekinist (trametinib) • Tafinlar (dabrafenib) • Vitrakvi (larotrectinib) • Rozlytrek (entrectinib) • Enhertu (fam-trastuzumab deruxtecan-nxki) • Retevmo (selpercatinib) • Jemperli (dostarlimab-gxly) • Pemazyre (pemigatinib) • Augtyro (repotrectinib)
    18h
    Ivosidenib, Nivolumab, and Ipilimumab Combination in Previously Treated Subjects With Nonresectable or Metastatic IDH1 Mutant Cholangiocarcinoma (clinicaltrials.gov)
    P1/2, N=7, Completed, Servier Bio-Innovation LLC | Active, not recruiting --> Completed | N=92 --> 7 | Trial completion date: Mar 2026 --> Nov 2024 | Trial primary completion date: Mar 2026 --> Nov 2024
    Trial completion • Enrollment change • Trial completion date • Trial primary completion date • Combination therapy • Metastases
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
    |
    IDH1 R132C • IDH1 R132
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    Opdivo (nivolumab) • Yervoy (ipilimumab) • Tibsovo (ivosidenib)
    22h
    The high-risk model associated with SYTL4 predicts poor prognosis and correlates with immune infiltration in AML. (PubMed, Biochem Biophys Rep)
    Patients in the high-risk group for these factors experienced significantly poor outcomes, which were closely associated with aDC, CD8 T cells, and TH17 cells. In summary, SYTL4 overexpression is linked to poor prognosis and immune infiltration in AML, with the constructed risk model intended as a prognostic evaluation tool for AML patients.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NPM1 (Nucleophosmin 1) • CD8 (cluster of differentiation 8) • HOXA10 (Homeobox A10)
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    NPM1 mutation
    1d
    Clinicopathological Parameters and Immunohistochemical Profiles in Correlation with MRI Characteristics in Glioblastomas. (PubMed, Int J Mol Sci)
    Additionally, ATRX mutations were frequently associated with a more pronounced deviation of the median structures. To statistically validate the associations between MRI and the histopathological features of glioblastomas, further studies with larger cohorts are required.
    Retrospective data • Journal
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    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler) • CD34 (CD34 molecule) • MMP9 (Matrix metallopeptidase 9) • ENG (Endoglin)
    |
    TP53 mutation • ATRX mutation
    1d
    Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers. (PubMed, Int J Mol Sci)
    In IDH-wildtype glioblastoma patients, a history of other precedent cancer was associated with worse overall survival (OS), while re-operation and bevacizumab therapy increased OS...Nine patients received molecular targeted therapy, and the results were evaluated. The search for molecular changes associated with tumor growth and progression is important for diagnosis and choice of therapy.
    Journal
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    EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • ATRX (ATRX Chromatin Remodeler)
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    TP53 mutation • PIK3CA mutation • IDH1 mutation • PTEN deletion • PTEN mutation • TERT mutation • IDH mutation + Chr del(1p) + Chr del(19q)
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    Avastin (bevacizumab)
    1d
    High-Throughput Drug Screening in Chondrosarcoma Cells Identifies Effective Antineoplastic Agents Independent of IDH Mutation. (PubMed, Int J Mol Sci)
    Representative drugs selected for further investigation included docetaxel, methotrexate, panobinostat, idarubicin, camptothecin, and pevonedistat. In conclusion, we identified several highly effective agents with potent anti-tumor activity in chondrosarcoma cells, independent of IDH mutation status. These agents represent promising candidates for chondrosarcoma therapy and warrant further preclinical investigation and potential inclusion in clinical trials.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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    IDH1 mutation
    |
    docetaxel • methotrexate • idarubicin hydrochloride • Farydak (panobinostat) • pevonedistat (MLN4924)
    1d
    Biological Markers of Myeloproliferative Neoplasms in Children, Adolescents and Young Adults. (PubMed, Cancers (Basel))
    Although rare, myeloproliferative neoplasms can involve young patients and pose unique challenges for clinicians in diagnosis and therapy. The paper aims to review the biological markers of MPNs in pediatric populations-a particular group of patients that has been poorly studied due to the low frequency of MPN diagnosis.
    Review • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CALR (Calreticulin)
    3d
    The role of clonal hematopoiesis in the molecular diagnostics of solid tumors (PubMed, Magy Onkol)
    The authors illustrate CHIP-related alterations affecting targeted therapies for solid tumors (e.g. KRAS, ATM, IDH1, TP53). The impact of CHIP on the detection of germline genetic alterations is also discussed.
    Review • Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
    3d
    Molecular pathology of gastrointestinal neoplasms (PubMed, Magy Onkol)
    The responsiveness of gastrointestinal stromal tumors to imatinib requires validation via molecular testing. Patients diagnosed with pancreatic cancer may see enhanced survival rates by targeted therapy addressing microsatellite instability and BRCA mutations. In bile duct malignancies, especially intrahepatic cholangiocarcinoma of the small duct variant, the analysis of IDH1 mutations and FGFR2 fusions presents new treatment prospects.
    Review • Journal • BRCA Biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CLDN18 (Claudin 18) • BRCA (Breast cancer early onset)
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    KRAS mutation • BRAF mutation • HER-2 amplification • NRAS mutation • IDH1 mutation • FGFR2 mutation • FGFR2 fusion • BRCA mutation • IDH1 mutation + FGFR2 fusion
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    imatinib
    8d
    Acute myeloid leukemia management and research in 2025. (PubMed, CA Cancer J Clin)
    Since 2017, a turning point in AML research, 12 agents have received regulatory approval for AML in the United States: venetoclax (BCL2 inhibitor); gemtuzumab ozogamicin (CD33 antibody-drug conjugate); midostaurin, gilteritinib, and quizartinib (fms-like tyrosine kinase 3 inhibitors); ivosidenib, olutasidenib, and enasidenib (isocitrate dehydrogenase 1 and 2 inhibitors); oral azacitidine (a partially absorbable formulation); CPX351 (liposomal encapsulation of cytarabine:daunorubicin at a molar ratio of 5:1); glasdegib (hedgehog inhibitor); and recently revumenib (menin inhibitor; approved November 2024). Oral decitabine-cedazuridine, which is approved as a bioequivalent alternative to parenteral hypomethylating agents in myelodysplastic syndrome, can be used for the same purpose in AML. Menin inhibitors, CD123 antibody-drug conjugates, and other antibodies targeting CD123, CD33, and other surface markers are showing promising results. Herein, the authors review the frontline and later line therapies in AML and discuss important research directions.
    Review • Journal • IO biomarker
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    FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CD123 (Interleukin 3 Receptor Subunit Alpha) • CD33 (CD33 Molecule) • IL3RA (Interleukin 3 Receptor Subunit Alpha)
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    Venclexta (venetoclax) • Xospata (gilteritinib) • Rydapt (midostaurin) • Vanflyta (quizartinib) • Tibsovo (ivosidenib) • Mylotarg (gemtuzumab ozogamicin) • Vyxeos (cytarabine/daunorubicin liposomal formulation) • Revuforj (revumenib) • Idhifa (enasidenib) • Inqovi (decitabine/cedazuridine) • Rezlidhia (olutasidenib) • Onureg (azacitidine oral) • Daurismo (glasdegib)
    9d
    Acute myeloid leukemia treatment outcomes with isocitrate dehydrogenase mutations: A systematic review and meta-analysis. (PubMed, Medicine (Baltimore))
    Different subtypes of IDH mutations may lead to different AML prognoses, suggesting the feasibility of personalized treatment for AML patients.
    Clinical • Retrospective data • Review • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    IDH1 mutation • IDH2 mutation
    9d
    Measuring the Effects of Talazoparib in Patients With Advanced Cancer and DNA Repair Variations (clinicaltrials.gov)
    P2, N=36, Recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2024 --> Dec 2026 | Trial primary completion date: Dec 2024 --> Dec 2026
    Trial completion date • Trial primary completion date • Metastases
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    BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1) • CDK12 (Cyclin dependent kinase 12) • CHEK2 (Checkpoint kinase 2) • RAD51 (RAD51 Homolog A) • FANCA (FA Complementation Group A) • RAD51B (RAD51 Paralog B) • BRIP1 (BRCA1 Interacting Protein C-terminal Helicase 1) • RAD51C (RAD51 paralog C) • RAD50 (RAD50 Double Strand Break Repair Protein) • RAD51D (RAD51 paralog D) • CHEK1 (Checkpoint kinase 1) • BARD1 (BRCA1 Associated RING Domain 1) • NBN (Nibrin Nijmegen Breakage Syndrome 1 (Nibrin)) • RAD54L (DNA Repair And Recombination Protein RAD54) • FANCF (FA complementation group F) • FANCL (FA Complementation Group L) • FANCI (FA Complementation Group I) • FANCM (FA Complementation Group M) • BACH1 (BTB Domain And CNC Homolog 1) • FANCD2 (FA Complementation Group D2) • FANCE (FA Complementation Group E) • FANCG (FA Complementation Group G) • FANCB (FA Complementation Group B) • FANCC (FA Complementation Group C)
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    BRCA2 mutation • BRCA1 mutation • ATM mutation
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    Talzenna (talazoparib)
    10d
    Establishment and characterization of a novel patient-derived cell line from conventional central grade 3 chondrosarcoma, NCC-CS1-C1. (PubMed, Hum Cell)
    A high-throughput screening of 221 anti-cancer drugs identified five candidates-bortezomib, carfilzomib, doxorubicin, panobinostat, and romidepsin-that demonstrated low IC50 values, indicating potential efficacy in treating CS. These findings suggest that NCC-CS1-C1 is a valuable tool for both preclinical and basic research on high-grade conventional central CS.
    Preclinical • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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    IDH1 mutation • IDH1 R132 • IDH1 R132S
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    bortezomib • doxorubicin hydrochloride • carfilzomib • Farydak (panobinostat) • Istodax (romidepsin)
    11d
    Molecular testing of gastrointestinal tumours - current status and future prospects. (PubMed, Rozhl Chir)
    In gallbladder and biliary tract cancers, we are mainly looking for IDH1 and IDH2 mutations, FGFR2 gene fusions and mutations, HER2 amplifications or mutations, as well as mutations of BRAF or BRCA1/2. All results should be discussed within the molecular tumor board.
    Review • Journal • BRCA Biomarker • PD(L)-1 Biomarker • IO biomarker
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    HER-2 (Human epidermal growth factor receptor 2) • PD-L1 (Programmed death ligand 1) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BRCA1 (Breast cancer 1, early onset) • BRCA2 (Breast cancer 2, early onset) • MSI (Microsatellite instability) • FGFR2 (Fibroblast growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    PD-L1 expression • BRCA2 mutation • BRCA1 mutation • BRAF mutation • HER-2 amplification • NRAS mutation • HER-2 expression • IDH2 mutation • FGFR2 mutation • FGFR2 fusion • HER-2 amplification + PD-L1 expression
    11d
    Mutation- and MRD-informed treatments for transplant-ineligible patients. (PubMed, Hematology Am Soc Hematol Educ Program)
    The ongoing development of molecularly targeted therapies in addition to the new standard of care combination of azacitidine and venetoclax (AZA-VEN) has transformed the prognostic outlook for older, transplant-ineligible patients with acute myeloid leukemia (AML). While conventional treatments, such as standard anthracycline and cytarabine- based chemotherapy or hypomethylating agent (HMA) monotherapy, are associated with a generally poor prognosis in this patient population, the use of these novel regimens can result in long-lasting, durable remissions in select patient subgroups...Additional studies defining the prognostic role of measurable residual disease following VEN-based treatment have further advanced prognostication capabilities and increased the ability for close disease monitoring and early targeted intervention prior to morphologic relapse. This review summarizes these recent developments and their impact on the treatment and survival of transplant-ineligible patients living with AML.
    Review • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    Venclexta (venetoclax) • cytarabine • azacitidine
    11d
    Comprehensive Genomic Profiling (CGP) of Acute Myeloid Leukemias with Foundation One Heme Identifies Actionable Genomic Alterations and Biomarkers (ASH 2024)
    Current best practices for the diagnosis, classification, prognostication, and treatment of AML call for the assessment of the presence and absence of numerous genomic alterations. Therefore, in contrast to single-gene or small-panel molecular testing, the F1H platform can simplify such assessment via a CGP approach.
    IO biomarker
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • BCL2 (B-cell CLL/lymphoma 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • SRSF2 (Serine and arginine rich splicing factor 2) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • BCOR (BCL6 Corepressor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • NUP214 (Nucleoporin 214) • MLLT3 (MLLT3 Super Elongation Complex Subunit) • MRTFA (Myocardin Related Transcription Factor A) • RBM15 (RNA Binding Motif Protein 15)
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    TP53 mutation • NPM1 mutation • KMT2A rearrangement • MLL rearrangement • U2AF1 mutation • CEBPA mutation • MLL mutation • NPM1 W288
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    FoundationOne® Heme CDx
    13d
    Prognostic value of immunohistochemical staining for H3K27me3 and EZH2 in astrocytoma, IDH-mutant. (PubMed, J Neurooncol)
    Positivity for H3K27me3, especially double positivity for H3K27me3 and EZH2, could be a poor prognostic factor for astrocytoma, IDH-mutant. These results suggest the utility of H3K27me3 and EZH2 as candidate markers for estimating the malignancy of astrocytoma, IDH-mutant.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MTAP (Methylthioadenosine Phosphorylase) • ATRX (ATRX Chromatin Remodeler)
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    EZH2 mutation • IDH1 R132H • IDH1 R132 • EZH2 positive
    13d
    Genetics of urinary bladder paragangliomas: a multi-center study of a Chinese cohort. (PubMed, J Endocrinol Invest)
    Chinese patients with UBPGLs have a diverse genetic profile. PVs in cluster 1 A genes underlie nearly 1/3 of patients, highlighting the importance of genetic testing. Diverse germline and somatic PVs are also present in Caucasian patients with UBPGLs.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • FGFR1 (Fibroblast growth factor receptor 1) • HRAS (Harvey rat sarcoma viral oncogene homolog) • NF1 (Neurofibromin 1) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B) • EPAS1 (Endothelial PAS domain protein 1) • H3-3A (H3.3 Histone A) • SDHD (Succinate Dehydrogenase Complex Subunit D) • EGLN1 (Egl-9 Family Hypoxia Inducible Factor 1) • SDHA (Succinate Dehydrogenase Complex Flavoprotein Subunit A)
    14d
    Prevalence of SPOP and IDH Gene Mutations in Prostate Cancer in a Jordanian Population. (PubMed, Biochem Genet)
    It also identified a high frequency (17%) of SPOP gene mutations in Jordanian Arab PCa patients, mainly in exon 7. No IDH1 mutations were detected in exon 6.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • SPOP (Speckle Type BTB/POZ Protein)
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    IDH1 mutation • SPOP mutation
    14d
    Prognostic significance and gene co-expression network of CD16A and FGL2 in gliomas. (PubMed, Front Oncol)
    Additionally, tissue microarrays from glioma patients at Tiantan Hospital showed significantly higher FCGR3A protein expression in high-grade gliomas compared to low-grade gliomas. In conclusion, our findings suggest that FCGR3A and FGL2 could serve as promising prognostic biomarkers and potential therapeutic targets for glioma patients.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • FCGR3A (Fc Fragment Of IgG Receptor IIIa)
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    IDH1 mutation
    15d
    Tumor-derived CCL2 drives tumor growth and immunosuppression in IDH1-mutant cholangiocarcinoma. (PubMed, Hepatology)
    IDH1-mutant CCA is characterized by increased abundance of M2-like TAMs. Targeting CCL2 remodels the tumor immune microenvironment and improves outcomes in preclinical models of IDH1-mutant CCA, highlighting the role for myeloid-targeted immunotherapies in the treatment of this cancer.
    Journal • IO biomarker
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • CD8 (cluster of differentiation 8) • CCL2 (Chemokine (C-C motif) ligand 2)
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    IDH1 mutation • IDH1 R132C • IDH1 R132
    17d
    The Validation of Digital PCR-based Minimal Residual Disease (MRD) Detection for the Common Mutations in IDH1 and IDH2 genes in Patients with Acute Myeloid Leukemia. (PubMed, J Mol Diagn)
    Controls and acceptable ranges were also established for each mutation during validation. This study suggests that the QuantStudio 3D Digital PCR assay is a quantitative, sensitive, and reproducible platform for monitoring MRD in AML patients.
    Journal • Minimal residual disease
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    IDH1 mutation • IDH2 mutation • IDH2 R140Q
    20d
    Rapid intraoperative amplicon sequencing of CNS tumor markers. (PubMed, Comput Struct Biotechnol J)
    Our method achieved a turnaround time of 105 min at the point-of-care from receipt of a tumor biopsy to result with the potential to impact surgical strategy. Our approach can be integrated with recently developed DNA methylation-based diagnostic classification systems, corroborating diagnoses and even further specifying tumor grades, thus enabling a multimodal diagnostic intraoperative assessment of CNS malignancies.
    Journal
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    BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • H3-3A (H3.3 Histone A)
    |
    BRAF V600 • IDH1 R132 • IDH2 R172
    20d
    Targeting the IDH1 R132H mutation in gliomas by CRISPR/Cas precision base editing. (PubMed, Neurooncol Adv)
    A dual adeno-associated virus split intein system was used to successfully deliver the base editor in vitro and in vivo. Taken together, our study provides a strategy for a precise genetic intervention to target the IDH1 R132H mutation, enabling the development of accurate models to study its impact on glioma biology and serving as a framework for an in vivo gene therapy.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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    IDH1 mutation • IDH1 R132H • IDH1 R132
    21d
    Integrated Transcriptome Profiling and Pan-Cancer Analyses Reveal Oncogenic Networks and Tumor-Immune Modulatory Roles for FABP7 in Brain Cancers. (PubMed, Int J Mol Sci)
    TIME profiling also revealed that the expression of FABP7 and the genes that it modulates was significantly associated with prognosis and survival, particularly in LGG patients, by influencing the infiltration of immunosuppressive cell populations within tumors. Overall, our findings suggest that FABP7 acts as an intracellular regulator of pro-tumor immunomodulatory genes, exerting a synergistic effect on the TIME and clinical outcomes in brain cancer subtypes.
    Journal • Pan tumor
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    EGFR (Epidermal growth factor receptor) • BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • MUC1 (Mucin 1) • ENO1 (Enolase 1) • FABP7 (Fatty Acid Binding Protein 7) • COL5A1 (Collagen Type V Alpha 1 Chain)
    21d
    IDH1 R132H and TP53 R248Q Mutations Modulate Glioma Cell Migration and Adhesion on Different ECM Components. (PubMed, Int J Mol Sci)
    TP53 R248Q mutation increased cell adhesion to various substrates and significantly promoted cell migration on hyaluronic acid and chondroitin sulfate but did not change the migration rates on laminin and collagens IV and I. A double-mutant genotype produced by consequently introducing IDH1 R132H and TP53 R248Q to parental glioblastoma cells was characterized by the highest migration among all the cell lines, with particularly faster motility on chondroitin sulfate. These findings underscore the complex interactions between glioma cells, with the most important driver mutations and specific ECM components regulating cancer cell migration, offering valuable insights for potential therapeutic targets in glioma treatment.
    Journal
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    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
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    TP53 mutation • IDH1 mutation • IDH1 R132H • IDH1 R132 • TP53 R248Q
    21d
    Prognostic Role of Invasion-Related Extracellular Matrix Molecules in Diffusely Infiltrating Grade 2 and 3 Astrocytomas. (PubMed, Brain Sci)
    Based on the invasion spectrum determined by this joint gene and protein expression analysis, there was a sensitivity of 87.5% and a negative predictive value of 88.9% regarding the different prognostic groups of grade 2 astrocytoma. For grade 3 tumors, the applied standard oncotherapeutic modalities apparently lacked significant anti-invasive effects.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • VCAN (Versican)
    21d
    Exploring Extracellular Vesicle Surface Protein Markers Produced by Glioblastoma Tumors: A Characterization Study Using In Vitro 3D Patient-Derived Cultures. (PubMed, Cancers (Basel))
    This study underscores the efficacy of the tumor-derived explant model and its potential to advance the understanding of GBM biology and EV production. A key innovation is the isolation of EVs from a model that faithfully mimics the tumor's original cytoarchitecture, offering a deeper understanding of the cells involved in EV release. The identified EV surface markers represent promising targets for enhancing EV isolation and optimizing their use as diagnostic tools. Moreover, further investigation into their molecular cargo may provide crucial insights into tumor characteristics and evolution.
    Preclinical • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    IDH2 mutation
    22d
    miR-200 family as new potential prognostic factor of overall survival of patients with WHO G2 and WHO G3 brain gliomas. (PubMed, Sci Rep)
    Members of the miR-200 family exhibit prognostic value for 2- and 5-year OS. Presented predictive models of survival may be clinically useful for treatment optimization.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • MIR200B (MicroRNA 200b) • MIR200C (MicroRNA 200c) • MIR429 (MicroRNA 429) • MIR200A (MicroRNA 200a) • MIR141 (MicroRNA 141) • MIR200 (MicroRNA 200)
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    miR-200-a expression • miR-141 expression • miR-200-c expression • miR-429 expression
    22d
    Novel Fibroblast Growth Factor Receptor 3-Fatty Acid Synthase Gene Fusion in Recurrent Epithelioid Glioblastoma Linked to Aggressive Clinical Progression. (PubMed, Curr Oncol)
    Postoperative treatment included radiotherapy and temozolomide...The recurrence was managed with regorafenib and bevacizumab, though complications like hand-foot syndrome and radiation necrosis arose...The novel FGFR3-FASN fusion suggests potential implications for GBM recurrence and lipid metabolism. Further studies are warranted to explore FGFR3-FASN's role in GBM and its therapeutic targeting.
    Journal
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    PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR3 (Fibroblast growth factor receptor 3) • FGFR1 (Fibroblast growth factor receptor 1) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • TERT (Telomerase Reverse Transcriptase) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • FASN (Fatty acid synthase)
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    IDH2 mutation • PTEN deletion • PTEN mutation • CDKN2A deletion • CDKN2A mutation • TERT mutation • TERT promoter mutation
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    Avastin (bevacizumab) • temozolomide • Stivarga (regorafenib)
    22d
    Survey for Activating Oncogenic Mutation Variants in Metazoan Germline Genes. (PubMed, J Mol Evol)
    While cancer expansion ensues from dysregulated growth elicited by these mutations, this effect is likely detrimental to embryonic development and/or survival of multicellular organisms. Although all oncogenic mutations considered here are gain-of-function where five of the six increase activity of the encoded proteins, clonal advancement promotes tumor growth by these genomic changes without conferring selection advantages benefiting the organism or species.
    Journal
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    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • JAK2 (Janus kinase 2)
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    EGFR mutation • BRAF mutation • PIK3CA mutation
    23d
    Spectrum of IDH-mutant tumors in Ollier-Maffucci disease: the triple interaction theory. (PubMed, Orphanet J Rare Dis)
    In summary, our theory provides a new understanding of IDH-mutated tumors in OD-MS patients, as arising from the triple interaction within the same cell of a developmental defect (the somatic mutation that occurs early during the embryogenesis), an organ-specific functional state "expressing" the IDH mutation and leading to an accumulation of D-2HG, and an inheritable predisposing factor (a risky SNP, also specific to each organ). We discuss how this theory could guide future research in OD-MS patients and, more generally, in patients harboring sporadic IDH-mutated tumors.
    Review • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1)
    23d
    Canonical Amplifications and CDKN2A/B Loss Refine IDH1/2-mutant Astrocytoma Prognosis. (PubMed, Neuro Oncol)
    Combining CDKN2A/B hemizygous-loss and focal gene amplifications reveals a group of IDHmut-astrocytoma patients with intermediate prognosis, refining IDHmut-astrocytoma classification.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B)
    24d
    Clinical and biological advances of critical complications in acute myeloid leukemia. (PubMed, Leuk Lymphoma)
    Venetoclax-induced TLS and differentiation syndrome (DS) from IDH1/IDH2 or menin inhibitors highlight the need for ongoing research and innovative approaches...Effective AML management relies on collaborative efforts from hematologists, specialized services, and intensive care units (ICUs). This review analyzes recent data on critical AML complications, identifies areas for further investigation, and proposes ways to advance clinical research and enhance patient care strategies.
    Review • Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    Venclexta (venetoclax)
    25d
    Impact of genetic alterations on long-term outcomes in resectable intrahepatic cholangiocarcinoma: meta-analysis. (PubMed, Br J Surg)
    Determining the overall prevalence of the most common actionable and undruggable mutations may help to expand target therapy indications in the adjuvant setting. Inconsistent results have been found for some infrequent gene alterations; their rare involvement could potentially bias their prognostic meaning.
    Clinical • Retrospective data • Review • Journal
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2)
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    KRAS mutation
    26d
    Genetic and immunologic features associated with thrombocytopenia progression and poor prognosis in patients with myelofibrosis. (PubMed, Front Med (Lausanne))
    ASXL1 mutation and low CD45RA+CD4+ T-cell counts correlated with progression to thrombocytopenia. Our findings underscore the clinical significance of thrombocytopenia dynamics in MF progression and prognosis, with implications for patient management and therapeutic interventions.
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ASXL1 (ASXL Transcriptional Regulator 1)
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    IDH1 mutation • ASXL1 mutation
    27d
    MYB::QKI fusion-positive diffuse glioma of the cerebellum: A case report. (PubMed, Neuropathology)
    Although the morphological findings and the presence of fusion indicated that the tumor was a cerebellar AG, the DNA methylome profile did not match that of AG. An accumulation of more cases is needed to determine the precise nature of the tumor, which may lead to an expansion of the tumor concept.
    Journal
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    BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • H3-3A (H3.3 Histone A) • GFAP (Glial Fibrillary Acidic Protein) • H3C1 (H3 Clustered Histone 1) • MYBL1 (MYB Proto-Oncogene Like 1) • OLIG2 (Oligodendrocyte Transcription Factor 2)
    |
    BRAF V600 • IDH1 R132H • IDH1 R132 • IDH2 R172
    28d
    Molecular Analysis of Genes CEBPA, NPM1, IDH1, and RUNX1 Polymorphisms as Biomarker Potential in Leukemia Patients. (PubMed, Mol Carcinog)
    Leukemia risk increases by twofold and shows significant association in the homozygous mutant (AA) of rs11554137 (OR = 1.75; 95%Cl = 1.09-2.79; p = 0.01). Leukemia risk increases by twofold and shows significant association in the homozygous mutant (AA) of rs13051066 of gene RUNX1 (OR = 0.63; 95%Cl = 0.39-1.63; p = 0.06).
    Journal
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
    29d
    Menin inhibitors for the treatment of acute myeloid leukemia: challenges and opportunities ahead. (PubMed, J Hematol Oncol)
    More importantly, approval of the combination of the BCl-2 inhibitor, venetoclax, and hypomethylating agents or low dose cytarabine provided unprecedented breakthrough for the frontline treatment of older, unfit AML patients. Recent development of menin inhibitors targeting AML with KMT2A rearrangements or NPM1 mutations could represent a promising new horizon of treatment for patients within these subsets of AML. Our current review will focus on a summary and updates of recent developments of menin inhibitors in the treatment of AML, on the challenges ahead arising from drug resistance, as well as on the opportunities of novel combinations with menin inhibitors.
    Review • Journal • IO biomarker
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    FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A)
    |
    NPM1 mutation • KMT2A rearrangement • MLL rearrangement
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    Venclexta (venetoclax) • cytarabine
    30d
    Proton pump inhibitors are detrimental to overall survival of patients with glioblastoma: Results from a nationwide real-world evidence database. (PubMed, Neurooncol Pract)
    ALDH1A1 is a primary metabolic enzyme impacting the outcome of chemotherapy, including temozolomide...Evidence from a nationwide cancer registry has suggested PPIs have a negative impact on OS for GBM patients, particularly those with MGMT promoter methylation. This suggests PPIs should be avoided for prophylactic management of gastrointestinal toxicity in patients with GBM receiving chemoradiotherapy.
    Journal • HEOR • Real-world evidence • Real-world
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    IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • MGMT (6-O-methylguanine-DNA methyltransferase) • ALDH1A1 (Aldehyde Dehydrogenase 1 Family Member A1)
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    MGMT promoter methylation
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    temozolomide
    30d
    Histopathologic and molecular profile of gliomas diagnosed in Lagos, Nigeria. (PubMed, Neurooncol Pract)
    This study shows that the incorporation of molecular testing can considerably improve brain tumor diagnoses in Nigeria. Furthermore, this study highlights the diagnostic challenges in resource-limited settings and what is at stake in the global disparities of brain tumor diagnosis.
    Journal
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    BRAF (B-raf proto-oncogene) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • ATRX (ATRX Chromatin Remodeler)
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    BRAF V600E • BRAF V600 • IDH1 R132H • IDH1 R132
    1m
    Optimizing outcomes and personalizing care with targeted agents in advanced cholangiocarcinoma. (PubMed, Cancer Treat Rev)
    We also discuss the challenges and opportunities originating from recent clinical trials evaluating targeted treatments and our own institutional experience at UCLH that have aimed to address some of these biological complexities and have translated into improved patient outcomes via effective molecularly driven patient selection strategies. We also provide perspectives on emerging novel, next generation targeted inhibitors overcoming treatment resistance to previous targeted agents with demonstrated clinical value in a challenging patient population.
    Review • Journal • Metastases
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    HER-2 (Human epidermal growth factor receptor 2) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • NTRK (Neurotrophic receptor tyrosine kinase)
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    BRAF V600E • BRAF V600