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    BIOMARKER:

    Chr del(5q)

    6d
    Low-VAF TP53-Mutated AML Displays Distinct Biological Features in a Single-Center Cohort. (PubMed, Biomedicines)
    TP53-mutated AML with VAF < 10% may represent a biologically distinct subgroup. Further multicenter studies with larger cohorts are needed to validate and refine the VAF threshold for prognostic evaluation and individualized management.
    Journal • Tumor mutational burden • IO biomarker
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    TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • ASXL1 (ASXL Transcriptional Regulator 1) • CD38 (CD38 Molecule) • SRSF2 (Serine and arginine rich splicing factor 2) • CD34 (CD34 molecule)
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    TP53 mutation • ASXL1 mutation • SRSF2 mutation • Chr del(5q)
    7d
    Age-dependent clinical, molecular, and prognostic differences in patients with AML: a retrospective study. (PubMed, Hematology)
    This study revealed that patients aged ≥50 years displayed more complex genetic aberration profiles and experienced significantly poorer prognoses compared to their younger counterparts. These findings provided novel insights for optimizing treatment strategies for middle-aged and elderly AML patients in the Chinese population.
    Retrospective data • Journal
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    TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • WT1 (WT1 Transcription Factor) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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    TP53 mutation • KIT mutation • Chr del(5q) • CBFB-MYH11 fusion
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    Venclexta (venetoclax)
    8d
    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)
    26d
    Correlation between ASXL1 Gene Mutation Characteristics and Clinical Manifestations and Prognosis in Patients with Myelodysplastic Syndrome (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
    The overall survival of MDS patients with ASXL1mut is poor. The patients with p.Gly646fs sequence mutation have a higher proportion of bone marrow blasts and a worse prognosis. There are no statistical differences in efficacy of different treatment strategies in ASXL1mut group. ASXL1 mutation shows no significant effect on the response of MDS to hypomethylating agent therapy.
    Retrospective data • Journal
    |
    NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor)
    |
    NRAS mutation • KIT mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation • Chr del(5q)
    1m
    Venetoclax Added to Fludarabine + Busulfan Prior to Transplant and to Maintenance Therapy for AML, MDS, and MDS/MPN (clinicaltrials.gov)
    P1, N=102, Active, not recruiting, Jacqueline Garcia, MD | Trial completion date: Feb 2026 --> Mar 2027 | Trial primary completion date: Dec 2025 --> May 2026
    Trial completion date • Trial primary completion date
    |
    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NRAS (Neuroblastoma RAS viral oncogene homolog) • BCR (BCR Activator Of RhoGEF And GTPase) • BCL2 (B-cell CLL/lymphoma 2) • NPM1 (Nucleophosmin 1) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • 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) • STAG2 (Stromal Antigen 2) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • DEK (DEK Proto-Oncogene) • RIT1 (Ras Like Without CAAX 1) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
    |
    TP53 mutation • KRAS mutation • NRAS mutation • RUNX1 mutation • RAS mutation • ASXL1 mutation • CBL mutation • Chr del(5q)
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    Venclexta (venetoclax) • azacitidine • Inqovi (decitabine/cedazuridine) • fludarabine IV • busulfan
    1m
    Clinical and Biological Insights into Myelodysplastic Neoplasms Associated with Deletions of Chromosome 5q Region. (PubMed, Hematol Rep)
    These patients show a good prognosis and respond to treatment with lenalidomide, but some cases progress to acute myeloid leukemia...In other MDS patients, del(5q) is combined with other chromosomal abnormalities, giving rise to a condition of complex karyotype, associated with frequent TP53 mutations and with a poor prognosis. Two different molecular pathways seem to be responsible for the generation of MDS with isolated del(5q) or of MDS with del(5q) associated with a complex karyotype.
    Review • Journal
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    TP53 (Tumor protein P53)
    |
    TP53 mutation • Chr del(5q)
    |
    lenalidomide
    1m
    Pemigatinib After Chemotherapy for the Treatment of Newly Diagnosed Acute Myeloid Leukemia (clinicaltrials.gov)
    P1, N=32, Recruiting, OHSU Knight Cancer Institute | Trial completion date: Jun 2026 --> Dec 2026 | Trial primary completion date: Dec 2025 --> Dec 2026
    Trial completion date • Trial primary completion date
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • 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) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • MLLT3 (MLLT3 Super Elongation Complex Subunit) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • DEK (DEK Proto-Oncogene) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
    |
    TP53 mutation • FLT3 mutation • RUNX1 mutation • ASXL1 mutation • EZH2 mutation • SRSF2 mutation • Chr del(5q)
    |
    cytarabine • Pemazyre (pemigatinib) • daunorubicin • Starasid (cytarabine ocfosfate)
    1m
    Off-the-shelf NK Cells + SCT for Myeloid Malignancies (clinicaltrials.gov)
    P2, N=24, Completed, M.D. Anderson Cancer Center | Phase classification: P1/2 --> P2
    Phase classification
    |
    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • MECOM (MDS1 And EVI1 Complex Locus) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • DEK (DEK Proto-Oncogene)
    |
    TP53 mutation • FLT3 mutation • RUNX1 mutation • ASXL1 mutation • Chr del(5q)
    |
    cyclophosphamide • melphalan • fludarabine IV • mesna • Neupogen (filgrastim)
    3ms
    Myelodysplastic syndromes: Updates on Genomic Landscape, Molecular Subtypes, & Targeted Therapies. (PubMed, Curr Hematol Malig Rep)
    Several recent targeted drug approvals including luspatercept and imetelstat have greatly expanded the treatment arsenal for lower-risk MDS. Standard of care therapy options for high-risk MDS, in particular TP53-mutated, remain limited beyond HMAs and transplant and are an active area of investigation.
    Review • Journal
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • SF3B1 (Splicing Factor 3b Subunit 1)
    |
    TP53 mutation • IDH1 mutation • Chr del(5q)
    |
    Reblozyl (luspatercept-aamt) • Rytelo (imetelstat)
    3ms
    CD8 Depleted, Non-engrafting, HLA Mismatched Unrelated Infusion With MDS and Secondary AML (clinicaltrials.gov)
    P1/2, N=19, Completed, H. Lee Moffitt Cancer Center and Research Institute | Active, not recruiting --> Completed
    Trial completion
    |
    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) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • CALR (Calreticulin) • CDKN1A (Cyclin-dependent kinase inhibitor 1A) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    TP53 mutation • Chr del(11q) • Chr del(5q)
    |
    cytarabine
    4ms
    LUSPLUS: Assessment of Effectiveness and Safety of Luspatercept in Patients Suffering From Lower-risk Myelodysplastic Syndrome. (clinicaltrials.gov)
    P3, N=70, Active, not recruiting, GWT-TUD GmbH | Recruiting --> Active, not recruiting | Trial completion date: Jun 2025 --> Feb 2027 | Trial primary completion date: Dec 2024 --> Oct 2026
    Enrollment closed • Trial completion date • Trial primary completion date
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    SF3B1 (Splicing Factor 3b Subunit 1)
    |
    SF3B1 mutation • Chr del(5q)
    |
    Reblozyl (luspatercept-aamt)
    4ms
    MBG453 in Lower Risk MDS (clinicaltrials.gov)
    P2, N=20, Active, not recruiting, Massachusetts General Hospital | Recruiting --> Active, not recruiting | Trial completion date: Jan 2026 --> Nov 2026 | Trial primary completion date: Jun 2024 --> Nov 2024
    Enrollment closed • Trial completion date • Trial primary completion date
    |
    Chr del(5q)
    |
    sabatolimab (MBG453)