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BIOMARKER:

EZH2 mutation

i
Other names: EZH2, ENX-1, EZH1, KMT6, KMT6A, Enhancer of zeste 2 polycomb repressive complex 2 subunit
Entrez ID:
Related biomarkers:
2d
A Study of ASTX727 in People With Malignant Peripheral Nerve Sheath Tumors (MPNST) (clinicaltrials.gov)
P2, N=25, Recruiting, Memorial Sloan Kettering Cancer Center | Trial completion date: Apr 2026 --> Apr 2027 | Trial primary completion date: Apr 2026 --> Apr 2027
Trial completion date • Trial primary completion date
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SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit)
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EZH2 mutation
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Inqovi (decitabine/cedazuridine)
3d
LS1781: Ascorbic Acid and Chemotherapy for the Treatment of Relapsed or Refractory Lymphoma, CCUS, and Chronic Myelomonocytic Leukemia (clinicaltrials.gov)
P2, N=80, Recruiting, Mayo Clinic | Trial completion date: Mar 2026 --> Nov 2033 | Trial primary completion date: Dec 2025 --> Feb 2031
Trial completion date • Trial primary completion date
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • BCL2 (B-cell CLL/lymphoma 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CD4 (CD4 Molecule) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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IDH2 mutation • TET2 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation
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cisplatin • carboplatin • gemcitabine • Rituxan (rituximab) • cytarabine • cyclophosphamide • ifosfamide • oxaliplatin • etoposide IV • decitabine • Truxima (rituximab-abbs) • Hemady (dexamethasone tablets) • Mabtas (rituximab biosimilar) • Starasid (cytarabine ocfosfate) • dexamethasone injection
6d
Evaluate the Safety and Clinical Activity of HH2853 (clinicaltrials.gov)
P1/2, N=254, Recruiting, Haihe Biopharma Co., Ltd. | Trial completion date: Dec 2025 --> Dec 2028 | Trial primary completion date: Dec 2025 --> Dec 2027
Trial completion date • Trial primary completion date • First-in-human
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ARID1A (AT-rich interaction domain 1A) • BAP1 (BRCA1 Associated Protein 1)
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ARID1A mutation • EZH2 mutation
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HH2853
6d
Enrollment change • Trial withdrawal
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EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit)
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EZH2 mutation
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Tazverik (tazemetostat)
7d
The clinical study on individualized treatment for advanced myeloproliferative neoplasms using integrated multi-omics approaches (ChiCTR2500111453)
P=N/A, N=10, Not yet recruiting, The Second Medical Center of Chinese PLA General Hospital​; The Second Medical Center of Chinese PLA General Hospital?
New trial
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TP53 (Tumor protein P53) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • CALR (Calreticulin)
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TP53 mutation • ASXL1 mutation • EZH2 mutation
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decitabine
11d
Enrollment change • Trial completion date
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BRAF V600E • BRAF V600 • BRAF V600K • EZH2 mutation
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Guardant360® CDx
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Mekinist (trametinib) • Tafinlar (dabrafenib) • Tazverik (tazemetostat)
12d
ALLO-BAT: Study of Stem Cell Transplant vs. Non-Transplant Therapies in High-Risk Myelofibrosis (clinicaltrials.gov)
P=N/A, N=90, Active, not recruiting, University Health Network, Toronto | Recruiting --> Active, not recruiting
Enrollment closed
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TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CALR (Calreticulin)
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TP53 mutation • ASXL1 mutation • EZH2 mutation • SRSF2 mutation • CALR mutation
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Jakafi (ruxolitinib) • hydroxyurea
12d
Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in Therapy-Resistant PICALM::MLLT10 Leukemia. (PubMed, EJHaem)
The sequential acquisition of cooperating genetic lesions supports clonal evolution and highlights the need for molecular monitoring and novel therapeutic strategies. The authors have confirmed clinical trial registration is not needed for this submission.
Journal
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NF1 (Neurofibromin 1) • PHF6 (PHD Finger Protein 6) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor) • SMC1A (Structural Maintenance Of Chromosomes 1A)
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EZH2 mutation • Chr del(5q)
19d
Posterior fossa ependymoma harboring H3K27M mutation: A rare case report with clinical follow-up and diagnostic challenges. (PubMed, Clin Neuropathol)
While H3K27M mutations are hallmark features of diffuse midline gliomas, rare cases of posterior fossa ependymomas harboring these mutations have been reported. Recent studies suggest molecular similarities between diffuse midline gliomas and posterior fossa ependymomas expressing H3K27M and EZHIP, potentially reflecting shared hindbrain developmental programs in their biological origins.
Journal
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EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • GFAP (Glial Fibrillary Acidic Protein) • OLIG2 (Oligodendrocyte Transcription Factor 2)
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EZH2 mutation
25d
MDS/AML and AML with myelodysplasia-related gene mutations: clinical and molecular similarities. (PubMed, Blood Adv)
MRD of secondary type mutations alone lacks predictive value, yet MRD of non-DTA mutations in CR is associated with increased CIR in st-AML (SHR MRDpos vs. MRDneg 3.25; p<0.001). Molecularly-defined st-AML, including st-MDS/AML, defines a distinct AML category with a unique genetic, clinical and treatment response profile, in which NGS-based MRD holds markedly prognostic significance.
Journal
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SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • ETV6 (ETS Variant Transcription Factor 6) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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ASXL1 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation
29d
To Evaluate a Phase I/II Clinical Study of XNW5004 Tablets in Patients With Relapsed/Refractory Advanced Tumors (clinicaltrials.gov)
P1/2, N=120, Completed, Evopoint Biosciences Inc. | Recruiting --> Completed | N=176 --> 120 | Trial completion date: Dec 2024 --> Aug 2025 | Trial primary completion date: Dec 2024 --> Aug 2025
Trial completion • Enrollment change • Trial completion date • Trial primary completion date
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TNFRSF8 (TNF Receptor Superfamily Member 8)
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EZH2 mutation
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igermetostat (XNW5004)
1m
Phosphorylation-dependent modulation of the Lamin A/C-EZH2 complex regulates epithelial-mesenchymal plasticity. (PubMed, Nucleic Acids Res)
In vivo, xenograft assays in NOD-SCID mice reveal that while phosphorylated Lamin A/C or EZH2 promote tumor growth and metastasis, phospho-deficient mutants markedly suppress it. Lamin A/C-EZH2 interaction regulates the expression of E-M-associated transcription factors, highlighting the role of this interaction in modulating transcriptional plasticity, thereby serving as a potential therapeutic target for regulating metastasis in breast cancers.
Journal
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EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • LMNA (Lamin A/C) • TWIST1 (Twist Family BHLH Transcription Factor 1) • CDK1 (Cyclin-dependent kinase 1) • SNAI1 (Snail Family Transcriptional Repressor 1) • ZEB1 (Zinc Finger E-box Binding Homeobox 1)
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EZH2 mutation