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    BIOMARKER:

    Chr del(5q)

    6d
    Acute Myeloid Leukemia, Myelodysplasia-Related (AML-MR), With del(5q) and Double Minutes Containing Chromosomal Segment 11q24 Leading to Amplification and Expression of FLI1. (PubMed, Case Rep Hematol)
    After eight years and treatment with lenalidomide with excellent clinical response, she developed progressive cytopenias and transformation to acute myeloid leukemia, myelodysplasia-related (AML-MR)...The patient was treated with combination azacitidine and venetoclax and an investigational immunotherapy within a clinical trial...Our findings expand the spectrum of dmin-associated oncogenic amplifications in myeloid neoplasms and highlight FLI1 and ETS1 as recurrent targets of 11q24-derived ecDNA amplification. Recognition of such rare events underscores the importance of integrative cytogenomic profiling for uncovering novel mechanisms of leukemic transformation and potential therapeutic targets.
    Journal • IO biomarker
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    TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1) • KMT2A (Lysine Methyltransferase 2A) • FLI1 (Fli-1 Proto-Oncogene ETS Transcription Factor) • ETS1 (ETS Proto-Oncogene 1) • EGR1 (Early Growth Response 1)
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    TP53 mutation • SF3B1 mutation • Chr del(5q)
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    Venclexta (venetoclax) • lenalidomide • azacitidine
    21d
    A Single-arm, Prospective Study of a Cladribine-Bridged LABU Conditioning Regimen in Allogeneic Hematopoietic Stem Cell Transplantation for Relapsed/Refractory MDS/AML in Elderly Patients (clinicaltrials.gov)
    P=N/A, N=30, Recruiting, The First Affiliated Hospital of Soochow University
    New trial
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    TP53 (Tumor protein P53) • SF3B1 (Splicing Factor 3b Subunit 1)
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    TP53 mutation • SF3B1 mutation • Chr del(5q)
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    cytarabine • azacitidine • cladribine • melphalan • busulfan
    26d
    Revumenib in Combination With 7+3 + Midostaurin in AML (clinicaltrials.gov)
    P1, N=22, Recruiting, Richard Stone, MD | Trial completion date: Mar 2027 --> Mar 2028 | Trial primary completion date: Mar 2026 --> Mar 2027
    Trial completion date • Trial primary completion date
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    TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 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) • CREBBP (CREB binding protein) • 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) • KAT6A (Lysine Acetyltransferase 6A) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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    TP53 mutation • FLT3-ITD mutation • NPM1 mutation • Chr del(5q)
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    midostaurin • daunorubicin • Revuforj (revumenib)
    29d
    ReSPECT: Study of Rezafungin Compared to Standard Antimicrobial Regimen for Prevention of Invasive Fungal Diseases in Adults Undergoing Allogeneic Blood and Marrow Transplantation (clinicaltrials.gov)
    P3, N=602, Completed, Mundipharma Research Limited | Active, not recruiting --> Completed
    Trial completion
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    Chr del(5q)
    |
    Noxafil (posaconazole)
    1m
    ReSPECT: Study of Rezafungin Compared to Standard Antimicrobial Regimen for Prevention of Invasive Fungal Diseases in Adults Undergoing Allogeneic Blood and Marrow Transplantation (clinicaltrials.gov)
    P3, N=602, Active, not recruiting, Mundipharma Research Limited | Completed --> Active, not recruiting
    Enrollment closed
    |
    Chr del(5q)
    |
    Noxafil (posaconazole)
    2ms
    MBG453 in Lower Risk MDS (clinicaltrials.gov)
    P2, N=10, Terminated, Massachusetts General Hospital | N=20 --> 10 | Trial completion date: Nov 2026 --> Nov 2025 | Active, not recruiting --> Terminated; The trial closed early due to changes in support for the study drug.
    Enrollment change • Trial completion date • Trial termination
    |
    Chr del(5q)
    |
    sabatolimab (MBG453)
    2ms
    ReSPECT: Study of Rezafungin Compared to Standard Antimicrobial Regimen for Prevention of Invasive Fungal Diseases in Adults Undergoing Allogeneic Blood and Marrow Transplantation (clinicaltrials.gov)
    P3, N=602, Active, not recruiting, Mundipharma Research Limited | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    Chr del(5q)
    |
    Noxafil (posaconazole)
    3ms
    Imaging Flow Cytometry Detection of Cytogenetic Abnormalities in Circulating CD34+ Cells Predicts Leukemic Transformation in Myelofibrosis. (PubMed, Cytometry A)
    This pilot study demonstrates that imaging flow cytometry-based FISH of circulating CD34/CD45-positive cells enables real-time, blood-based surveillance for cytogenetic evolution in myelofibrosis. The ability to dynamically track clone size and hierarchy highlights its potential as an early predictor of leukemic transformation in myelofibrosis.
    Journal
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    CD34 (CD34 molecule) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C)
    |
    Chr del(17p) • Chr del(5q)
    3ms
    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)
    |
    TP53 mutation • ASXL1 mutation • SRSF2 mutation • Chr del(5q)
    3ms
    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)
    |
    TP53 mutation • KIT mutation • Chr del(5q) • CBFB-MYH11 fusion
    |
    Venclexta (venetoclax)
    3ms
    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)
    3ms
    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
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    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)