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CEBPA mutation
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Other names: CEBPA, CCAAT Enhancer Binding Protein Alpha, CCAAT/Enhancer Binding Protein (C/EBP), Alpha, CCAAT/Enhancer-Binding Protein Alpha, CEBP, CCAAT/Enhancer Binding Protein Alpha, C/EBP-Alpha, C/EBP Alpha
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Entrez ID:
2d
DNA and RNA NGS for Myeloid Neoplasms Using Oncomine Myeloid Assay GX v2 on GeneXus: An Assessment of Clinical Utility (AMP 2024)
This DNA- and RNA-based 80-gene panel has proven to be a powerful tool for genomic profiling of myeloid neoplasms. The results were provided to hematopathologists/oncologists in timely fashion with the critical information for diagnosis confirmation, and disease classification, as well as assessment of patient response to treatment.
Clinical • Next-generation sequencing
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KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • DDX41 (DEAD-Box Helicase 41) • CALR (Calreticulin) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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FLT3-ITD mutation • NPM1 mutation • U2AF1 mutation • CEBPA mutation • JAK2 V617F
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Oncomine Myeloid Assay GX
8d
The Efficacy of Allogeneic Hematopoietic Stem Cell Transplantation in Newly Diagnosed High-relapse-risk CEBPA Mutant Acute Myeloid Leukemia (clinicaltrials.gov)
P=N/A, N=50, Recruiting, Ruijin Hospital | Not yet recruiting --> Recruiting | Initiation date: Jun 2024 --> Oct 2024
Enrollment open • Trial initiation date
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CEBPA (CCAAT Enhancer Binding Protein Alpha)
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CEBPA mutation
15d
Analysis of Clinical Characteristics and Prognosis of AML Patients with Co-Mutation of CEBPA Gene and GATA2 Gene (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
The median age of patients with GATA2 gene mutation is lower than that of patients without GATA2 gene mutation. GATA2 gene mutation further prolongs the survival time of AML patients with CEBPA double mutations and CEBPA-bZIP domain mutation.
Journal
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CEBPA (CCAAT Enhancer Binding Protein Alpha) • GATA2 (GATA Binding Protein 2)
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CEBPA mutation • GATA2 mutation
1m
AML typical mutations (CEBPA, FLT3, and NPM1) identify a high-risk CMML independent of CPSS-Mol classification. (PubMed, Blood Adv)
The genetic profile of these mutCFN CMML patients closely resembled that of AML, with higher-risk clinical characteristics. Our findings lead us to suggest including the assessment of these mutations in CMML prognostic models and treating these patients with AML-type therapies, including intensive chemotherapy and allogeneic stem cell transplantation, whenever feasible, and consider certain targeted therapies approved for use in AML.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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IDH1 mutation • IDH2 mutation • FLT3 mutation • NPM1 mutation • CEBPA mutation
1m
Recent progress in AML with recurrent genetic abnormalities. (PubMed, Int J Hematol)
However, resistance to targeted therapies is also a challenge. This Progress in Hematology features current trends and challenges in favorable-risk AML and FLT3 mutations that are frequently identified in these patients.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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FLT3 mutation • NPM1 mutation • CEBPA mutation
2ms
Trial Evaluating MGTA-456 in Patients With High-Risk Malignancy (clinicaltrials.gov)
P2, N=22, Active, not recruiting, Masonic Cancer Center, University of Minnesota | Trial completion date: Jun 2024 --> Jun 2025
Trial completion date
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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FLT3-ITD mutation • NPM1 mutation • MLL rearrangement • MLL rearrangement • CEBPA mutation • FLT3 wild-type
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cyclophosphamide • melphalan • fludarabine IV • busulfan • spanlecortemlocel (MGTA-456)
6ms
CEBPA restricts alveolar type 2 cell plasticity during development and injury-repair. (PubMed, Nat Commun)
The temporal change in CEBPA-dependent plasticity reflects AT2 cell developmental history. The ontogeny of AT2 cell plasticity and its transcriptional and epigenetic mechanisms have implications in lung regeneration and cancer.
Journal
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CEBPA (CCAAT Enhancer Binding Protein Alpha) • SOX9 (SRY-Box Transcription Factor 9)
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CEBPA mutation • SOX9 expression
7ms
CEBPA mutations in acute myeloid leukemia: implications in risk stratification and treatment. (PubMed, Int J Hematol)
This review aims to provide a comprehensive summary of the heterogeneities observed in AML with CEBPAdm and CEBPAbZIP-inf, and will discuss the prognostic implications of concurrent mutations and novel mechanistic targets that may inform future drug development. The ultimate goal is to optimize clinical management and to provide precision medicine for this category of patients.
Review • Journal
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CEBPA (CCAAT Enhancer Binding Protein Alpha)
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CEBPA mutation
7ms
Gene Profile and Clinical Significance of Concomitant Mutations in CN-AML Patients with CEBPA Mutation (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
CN-AML patients with CEBPA mutation have specific concomitant gene profile, and the concomitant mutations of different functional genes have a certain impact on the clinical characteristics and prognosis of the patients.
Retrospective data • Journal
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FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • GATA2 (GATA Binding Protein 2)
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CEBPA mutation
7ms
Analysis of CSF3R mutations in atypical chronic myeloid leukemia and other myeloid malignancies. (PubMed, Ann Diagn Pathol)
In conclusion, CSF3R mutations were found at a higher frequency in aCML patients than in previous studies, which might reflect ethnic differences. Additional studies are needed to confirm these findings and the relationship between CSF3R and CEBPA mutations.
Journal
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ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • CSF3R (Colony Stimulating Factor 3 Receptor) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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ASXL1 mutation • SRSF2 mutation • CEBPA mutation • CSF3R T618I • CSF3R mutation
7ms
Journal
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CEBPA (CCAAT Enhancer Binding Protein Alpha)
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CEBPA mutation
7ms
What is new in acute myeloid leukemia classification? (PubMed, Blood Res)
AML cases defined by differentiation (WHO2022) and AML not otherwise specified (ICC) are categorized as lacking specific defining genetic abnormalities, WHO2022 labels this as a myeloid neoplasm post cytotoxic therapy (MN-pCT), described as an appendix after specific diagnosis. Similarly, in ICC, it can be described as "therapy-related", without a separate AML category.
Review • Journal
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TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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TP53 mutation • U2AF1 mutation • CEBPA mutation
7ms
CEBPA bZIP in-frame mutations in acute myeloid leukemia: prognostic and therapeutic implications. (PubMed, Blood Cancer J)
No abstract available
Journal
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CEBPA (CCAAT Enhancer Binding Protein Alpha)
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CEBPA mutation
8ms
Improving Risk Assessment of AML With a Precision Genomic Strategy to Assess Mutation Clearance (clinicaltrials.gov)
P2, N=107, Active, not recruiting, Washington University School of Medicine | Recruiting --> Active, not recruiting
Enrollment closed
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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FLT3-ITD mutation • NPM1 mutation • CEBPA mutation
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cytarabine • Rydapt (midostaurin)
8ms
Genetic alterations in myeloid sarcoma among acute myeloid leukemia patients: insights from 37 cohort studies and a meta-analysis. (PubMed, Front Oncol)
This meta-analysis sheds light on the prevalence of genetic mutations in AML patients with MS, providing insights into the unique characteristics of the mutations and their frequencies. These discoveries are crucial in informing therapeutic and prognostic decisions for individuals with myeloid sarcoma.
Retrospective data • Review
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FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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NRAS mutation • FLT3-ITD mutation • IDH2 mutation • CEBPA mutation
8ms
Clinical features and management of germline CEBPA-mutated carriers. (PubMed, Leuk Res)
Among the 27 healthy germline CEBPA-mutated carriers, we detected a pre-leukemia clone harboring a pathogenic IDH2 variant (R140Q)in one individual. These findings should aid in the genetic counseling and management of AML patients and healthy carriers with germline CEBPA mutations.
Journal
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IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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CEBPA mutation • IDH2 R140Q
9ms
Comparing Cytarabine + Daunorubicin Therapy Versus Cytarabine + Daunorubicin + Venetoclax Versus Venetoclax + Azacitidine in Younger Patients With Intermediate Risk AML (A MyeloMATCH Treatment Trial) (clinicaltrials.gov)
P2, N=153, Not yet recruiting, National Cancer Institute (NCI) | Trial completion date: Dec 2023 --> Dec 2025 | Trial primary completion date: Dec 2023 --> Dec 2025
Trial completion date • Trial primary completion date
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • RARA (Retinoic Acid Receptor Alpha) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • PML (Promyelocytic Leukemia) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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TP53 mutation • FLT3-ITD mutation • NPM1 mutation • RUNX1 mutation • ASXL1 mutation • FLT3-TKD mutation • CEBPA mutation
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Venclexta (venetoclax) • cytarabine • azacitidine • daunorubicin • Starasid (cytarabine ocfosfate)
9ms
GATA2 mutant variant allele frequency may reflect prognosis in Chinese adult patients with de novo cytogenetically normal acute myeloid leukemia. (PubMed, Biomol Biomed)
In the intermediate-risk group, the high median VAF of GATA2 (≥38.51%) had no significant effect in OS and RFS compared with the low median VAF (<38.51%). This study offers new insights on the prognosis of GATA2mut in the favorable-risk group, where VAF can be used as a guide.
Journal
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WT1 (WT1 Transcription Factor) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • GATA2 (GATA Binding Protein 2)
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CEBPA mutation • WT1 mutation • GATA2 mutation
9ms
Clinical Significance of Genetic and Molecular Changes in Primary Myeloid Sarcoma (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
The genetic and molecular abnormalities of primary MS can be detected by FISH and NGS techniques. FLT3-ITD, RUNX1, ASXL1 or TP53 mutation indicates a worse prognosis, but further clinical studies are needed to confirm it.
Journal
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • RARA (Retinoic Acid Receptor Alpha) • PML (Promyelocytic Leukemia) • CD34 (CD34 molecule) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CD68 (CD68 Molecule) • CBFB (Core-Binding Factor Subunit Beta 2) • CD99 (CD99 Molecule) • SPN (Sialophorin)
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TP53 mutation • FLT3-ITD mutation • FLT3 mutation • NPM1 mutation • KIT mutation • ASXL1 mutation • CEBPA mutation
9ms
Mapping AML heterogeneity - multi-cohort transcriptomic analysis identifies novel clusters and divergent ex-vivo drug responses. (PubMed, Leukemia)
In conclusion, our findings underscore the importance of transcriptomics in AML subtyping and offer a basis for future research and personalised treatment strategies. Our transcriptomic compendium is publicly available and we supply an R package to project clusters to new transcriptomic studies.
Preclinical • Journal
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NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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NPM1 mutation • KMT2A rearrangement • MLL rearrangement • CEBPA mutation
9ms
CEBPA double mutations associated with ABO antigen weakness in hematologic diseases. (PubMed, Blood Adv)
Among these, CEBPA double mutations displayed a significant association, with ABO antigen weakness being observed in 20 out of the 25 individuals (80.0%) possessing these mutations. From this study, new factors associated with ABO antigen weakness have been identified.
Journal
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NRAS (Neuroblastoma RAS viral oncogene homolog) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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U2AF1 mutation • CEBPA mutation
9ms
Risk factors and survival analysis of human leukocyte antigen loss in relapsed acute myeloid leukaemia/myelodysplastic syndrome patients after allogeneic haematopoietic stem cell transplantation. (PubMed, Br J Haematol)
In summary, HLA loss detection is essential for patients with recurrence after transplantation, especially for those with more HLA mismatched loci and non-sibling donor. Furthermore, the detection of HLA loss has a guiding role in choosing subsequent therapy when relapsed, as secondary transplantation is more suitable than DLI for those with HLA loss.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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FLT3-ITD mutation • CEBPA mutation
10ms
CD74 is expressed in a subset of pediatric acute myeloid leukemia patients and is a promising target for therapy: a report from the Children's Oncology Group. (PubMed, Haematologica)
Together, we demonstrate that CD74 is expressed on a subset of pediatric AMLs at increased levels compared to normal hematopoietic cells and is a promising target for therapy in expressing patients. Given that nearly half of patients expressing CD74 at high levels experience an adverse event within 5 years, and the availability of CD74 targeting drugs, this represents a promising line of therapy worthy of additional investigation.
Journal
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CD74 (CD74 Molecule) • CD34 (CD34 molecule) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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CEBPA mutation • CD74 expression
10ms
Prognostic Impact of Co-occurring Mutations in FLT3-ITD Pediatric Acute Myeloid Leukemia. (PubMed, Blood Adv)
However, ITDpos/NUP98::NSD1 patients continued to have poor outcomes with intensified therapy, including sorafenib. Co-occurring mutational profile in ITDpos AML has significant prognostic impacts is critical to determining risk stratification and therapeutic allocation for ITDpos patients.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
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FLT3-ITD mutation • FLT3 mutation • NPM1 mutation • CEBPA mutation • WT1 mutation
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sorafenib
10ms
Dysregulated immune and metabolic pathways are associated with poor survival in adult acute myeloid leukemia with CEBPA bZIP in-frame mutations. (PubMed, Blood Cancer J)
Genes in mitochondrial complexes I (NDUFA12 and NDUFB6) and V (ATP5PB and ATP5IF1) were overexpressed and were associated with poorer survival, and the results were independently validated in the TARGET AML cohort. In conclusion, concurrent WT1 or DNMT3A mutations and a dysregulated immune and metabolic state were correlated with poor survival in patients with CEBPA, and upfront allogeneic transplantation may be indicated for better long-term disease control.
Journal
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DNMT3A (DNA methyltransferase 1) • WT1 (WT1 Transcription Factor) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • ATP5IF1 (ATP Synthase Inhibitory Factor Subunit 1) • IFI35 (Interferon Induced Protein 35) • IRF2 (Interferon Regulatory Factor 2) • IRF5 (Interferon Regulatory Factor 5)
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DNMT3A mutation • CEBPA mutation
10ms
Prognostic impact of CEBPA mutational subgroups in adult AML. (PubMed, Leukemia)
Moreover, co-mutations in bZIP patients (e.g. GATA2, FLT3, WT1 as well as ELN2022 adverse risk aberrations) had no independent impact on OS, whereas in non-bZIP patients, grouping according to ELN2022 recommendations added significant prognostic information. In conclusion, these results demonstrate bZIP mutations to be the major independent determinant of outcome in CEBPA-mutant AML, thereby refining current classifications according to WHO (including all dmCEBPA and smCEBPA bZIP) as well as ELN2022 and ICC recommendations (including CEBPA bZIP).
Journal
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FLT3 (Fms-related tyrosine kinase 3) • WT1 (WT1 Transcription Factor) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • GATA2 (GATA Binding Protein 2)
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CEBPA mutation
10ms
NCI-2018-03465: Azacitidine, Venetoclax, and Pevonedistat in Treating Patients With Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)
P1/2, N=40, Active, not recruiting, M.D. Anderson Cancer Center | Trial completion date: Jan 2024 --> Jan 2025 | Trial primary completion date: Jan 2024 --> Jan 2025
Trial completion date • Trial primary completion date
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ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • NPM1 (Nucleophosmin 1) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • PDGFRB (Platelet Derived Growth Factor Receptor Beta) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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NPM1 mutation • CEBPA mutation • PDGFRA rearrangement
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Venclexta (venetoclax) • azacitidine • pevonedistat (MLN4924)
10ms
A blastic plasmacytoid dendritic cell neoplasm-like immunophenotype is negatively associated with CEBPA bZIP mutation and predicts unfavorable prognosis in acute myeloid leukemia. (PubMed, Ann Hematol)
Our study indicated that BPDCN-like phenotype negatively associated with CEBPA bZIP mutation and revealed a significantly poor prognosis in AML. Moreover, the 2022 ELN classification, in combination with the BPDCN-like phenotype, may better distinguish between different risk groups.
Journal
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CD123 (Interleukin 3 Receptor Subunit Alpha) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • CD4 (CD4 Molecule) • NCAM1 (Neural cell adhesion molecule 1) • IL3RA (Interleukin 3 Receptor Subunit Alpha)
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CEBPA mutation
11ms
Lung adenocarcinomas with isolated TP53 mutation: A comprehensive clinical, cytopathologic and molecular characterization. (PubMed, Cancer Med)
Isolated TP53 mutation was seen in association with smoking, high-grade cytomorphologic features, adverse prognosis, and recurrent CEBPA deletions. These tumors tend to have strong PD-L1 expression and high TMB, suggesting potential benefit from immune checkpoint inhibitors. Hence, the recognition of this molecular group has prognostic and therapeutic implications.
Journal • Tumor mutational burden • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • NKX2-1 (NK2 Homeobox 1)
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TP53 mutation • TMB-H • PD-L1 overexpression • CEBPA mutation • TP53 overexpression • TP53 mutation + TMB-H + PD-L1 overexpression
11ms
Assessment of 2022 European LeukemiaNet risk classification system in real-world cohort from China. (PubMed, Cancer Med)
The ELN-2022 risk stratification system may not be appropriate for patients unable to receive intensive therapy or FLT3 inhibitor; more real-world data is needed to straify patients with worse ECOG PS and inferior intensive therapy.
Journal • Real-world evidence • Real-world
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FLT3 (Fms-related tyrosine kinase 3) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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FLT3-ITD mutation • CEBPA mutation
11ms
Distinct karyotypic and mutational landscape in trisomy AML. (PubMed, Br J Haematol)
NRAS mutations were associated with poor outcome in trisomy AML, whereas DNMT3A and FLT3-ITD mutations had neutral effect. Trisomy AML appeared biologically distinct from CN-AML.
Journal
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KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • BCOR (BCL6 Corepressor) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • SMC1A (Structural Maintenance Of Chromosomes 1A)
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KRAS mutation • NRAS mutation • FLT3-ITD mutation • NPM1 mutation • DNMT3A mutation • ASXL1 mutation • CEBPA mutation • DNMT3A mutation + FLT3-ITD mutation • FLT3‐ITD + DNMT3A mutation
12ms
Molecular Characterisation and Outcomes of 363 Adolescent and Young Adults with AML in Saudi Arabia Risk Stratified By PCR and NGS-Based Testing (ASH 2023)
The study presents the largest molecular profiling to our knowledge of this population. The study emphasises the need for integration of NGS to enhance risk stratification and precision, enable better characterisation of high-risk patients, and improve the potential for targeted treatments.
Clinical • Next-generation sequencing
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • WT1 (WT1 Transcription Factor) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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FLT3-ITD mutation • NPM1 mutation • KIT mutation • ASXL1 mutation • CEBPA mutation • FLT3‐ITD + NPM1 mutation
12ms
Transfer of mRNA Encoding CEBPA in Lipid Nanoparticles to CEBPA Mutated Leukemia Cell Line KO52 and Primary AML Reduces Cell Growth and Induces Myeloid Differentiation (ASH 2023)
Our findings reveal a novel therapeutic strategy using CEBPA mRNA LNP applicable to inherited or acquired disorders of CEBPA. This approach of restoration of normal mRNA could have potential for therapy of many pre-malignant and malignant disorders.
Preclinical • IO biomarker
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD123 (Interleukin 3 Receptor Subunit Alpha) • CD33 (CD33 Molecule) • CD34 (CD34 molecule) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C) • CD14 (CD14 Molecule) • ITGAM (Integrin, alpha M) • IL3RA (Interleukin 3 Receptor Subunit Alpha) • ANPEP (Alanyl Aminopeptidase, Membrane) • ANXA5 (Annexin A5)
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CEBPA mutation
12ms
Low-Dose IA with Venetoclax Regimen As Induction Therapy for Newly Diagnosed Acute Myeloid Leukemia (ASH 2023)
Background: The IA regimen (combination of idarubicin and cytarabine) is used as the most common induction of remission therapy for acute myeloid leukemia, with the complete response (CR) rates of up to 70%. As induction and consolidation therapy whose adverse reactions were tolerable, the low-dose IA with Venetoclax regimen produces deep remission for the patients with newly diagnosed primary AML.
IO biomarker
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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FLT3-ITD mutation • NPM1 mutation • CEBPA mutation
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Venclexta (venetoclax) • cytarabine • idarubicin hydrochloride
12ms
NGS Profile and the Mathematical Prediction Model for Venetoclax Combination Therapy in HM-Screen-Japan 02 Study (ASH 2023)
Introduction Azacitidine and venetoclax combination therapy (Aza/Ven) is a novel strategy for acute myeloid leukemia (AML). Our mathematical model, involving gene mutations and WT1, could efficiently predict the response of Aza/Ven, which may support the selection of 1 st line treatment. In conclusion, our study revealed the genetic landscape of real-world Aza/Ven therapy and provided a potential prognostic model.
Combination therapy • Next-generation sequencing
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TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • 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) • SRSF2 (Serine and arginine rich splicing factor 2) • WT1 (WT1 Transcription Factor) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • STAG2 (Stromal Antigen 2) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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TP53 mutation • IDH2 mutation • NPM1 mutation • RUNX1 mutation • ASXL1 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation • U2AF1 mutation • CEBPA mutation • STAG2 mutation • WT1 mutation • ZRSR2 mutation
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Venclexta (venetoclax) • azacitidine
12ms
DISTINCT MUTATIONAL AND MORPHOLOGICAL PROFILE CHARACTERIZES PATIENTS WITH MYELOID NEOPLASMS HARBORING SRSF2-IDH1/2 DOUBLE MUTATIONS (SIE 2023)
Nevertheless, the presence of mutations in ASXL1 and JAK2 genes, age >65 years and the presence of fibrosis were associated with reduced OS (p<0.05, Kaplan-Meier), whereas NPM1-mutated gene characterized patients with better outcome. Overall, a typical mutational pattern and distinct morphological features defined patients affected by myeloid neoplasms with concomitant mutations in SRSF2 and IDH1/2.
Clinical
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CSF3R (Colony Stimulating Factor 3 Receptor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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IDH2 mutation • NPM1 mutation • DNMT3A mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation • CEBPA mutation
almost1year
Phenotypic subtypes of leukaemic transformation in chronic myelomonocytic leukaemia. (PubMed, Br J Haematol)
A trend towards improved OS and EFS with hypomethylating agent-venetoclax combination was observed in My-AML, but not Mo-AML. These findings define distinct progression of CMML and set the basis for future studies evaluating the role of phenotype-specific therapeutics.
Journal • IO biomarker
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TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CD33 (CD33 Molecule) • CD34 (CD34 molecule) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • NCAM1 (Neural cell adhesion molecule 1) • CD14 (CD14 Molecule)
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TP53 mutation • RAS mutation • TET2 mutation • SRSF2 mutation • CEBPA mutation • KIT expression • NCAM1 expression
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Venclexta (venetoclax)
1year
AML with CEBPA mutations: A comparison of ICC and WHO-HAEM5 criteria in patients with 20% or more blasts. (PubMed, Leuk Res)
Our study indicates that in-frame bZIP CEBPA mutations are the critical molecular aberrations associated with favorable outcomes in AML patients treated with curative intent chemotherapy. Compared to WHO-HAEM5, the ICC identifies a more homogenous group of CEBPA-mutated AML patients with favorable outcomes.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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MET mutation • CEBPA mutation
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