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    BIOMARKER:

    CBL mutation

    i
    Other names: CBL, c-Cbl, CBL2, RNF55, Cbl proto-oncogene, E3 ubiquitin protein ligase
    Entrez ID:
    867
    Related biomarkers:
    Mutation
    11d
    Evaluation of antileukemic potentials of maslinic acid through targeting responsive proteins of human leukemia: a mechanistic perception on molecular modelling and dynamic stimulations. (PubMed, In Silico Pharmacol)
    Maslinic acid (MA), a plant-derived pentacyclic triterpene, was compared to the FDA-approved drugs dasatinib (DAS) and doxorubicin (DOX) to determine its antileukemic potential. Thus, these results illustrate that MA may act as a natural scaffold with antileukemic properties and call for additional experimental confirmation. The online version contains supplementary material available at 10.1007/s40203-025-00478-3.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase)
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    CBL mutation
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    dasatinib • doxorubicin hydrochloride
    1m
    ADVL1521: Trametinib in Treating Patients With Relapsed or Refractory Juvenile Myelomonocytic Leukemia (clinicaltrials.gov)
    P2, N=10, Active, not recruiting, National Cancer Institute (NCI) | Trial completion date: Oct 2025 --> Oct 2026
    Trial completion date
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    NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
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    RAS mutation • CBL mutation
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    Mekinist (trametinib) • omipalisib (GSK2126458)
    2ms
    Molecular Heterogeneity in Early-Onset Colorectal Cancer: Pathway-Specific Insights in High-Risk Populations. (PubMed, medRxiv)
    However, in NHW EOCRC patients, the presence of WNT pathway alterations was associated with improved survival. These findings emphasize the necessity for further research to clarify the molecular mechanisms driving EOCRC disparities in high-risk populations and to inform precision medicine strategies for underrepresented groups.
    Journal
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    BRAF (B-raf proto-oncogene) • NF1 (Neurofibromin 1) • RNF43 (Ring Finger Protein 43) • TGFB1 (Transforming Growth Factor Beta 1) • BMPR1A (Bone Morphogenetic Protein Receptor Type 1A) • MAPK3 (Mitogen-Activated Protein Kinase 3)
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    KRAS mutation • BRAF mutation • CBL mutation
    3ms
    The watch-and-wait approach for patients with juvenile myelomonocytic leukemia: results of the French cohort. (PubMed, Blood)
    These findings support W&W as a viable alternative in up to 30% of JMML patients, potentially sparing them from HSCT-associated risks. Given the persistence of clonal hematopoiesis and the risk of extra-hematological complications, long-term monitoring remains essential.
    Journal
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    NRAS (Neuroblastoma RAS viral oncogene homolog) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SH2B3 (SH2B Adaptor Protein 3)
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    NRAS mutation • CBL mutation
    3ms
    Enasidenib in Combination With Cobimetinib for the Treatment of Relapsed or Refractory Acute Myeloid Leukemia (clinicaltrials.gov)
    P1, N=3, Active, not recruiting, City of Hope Medical Center | Suspended --> Active, not recruiting
    Enrollment closed
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
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    KRAS mutation • NRAS mutation • IDH2 mutation • RAS mutation • CBL mutation
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    Cotellic (cobimetinib) • Idhifa (enasidenib)
    3ms
    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 | Recruiting --> Active, not recruiting
    Enrollment closed
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    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)
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    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
    3ms
    Precision Oncology Through Dialogue: AI-HOPE-RTK-RAS Integrates Clinical and Genomic Insights into RTK-RAS Alterations in Colorectal Cancer. (PubMed, Biomedicines)
    In KRAS-mutant patients receiving Bevacizumab, early-stage disease (Stages I-III) was associated with superior overall survival relative to Stage IV (p = 0.0004)...Its ability to uncover both canonical and ancestry-specific patterns in RTK-RAS dysregulation-especially in EOCRC and populations with disproportionate health burdens-underscores its utility in advancing equitable, personalized cancer care. This work demonstrates the translational potential of domain-optimized AI tools to accelerate biomarker discovery, support therapeutic stratification, and democratize access to multi-omic analysis.
    Journal
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    EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • MAPK3 (Mitogen-Activated Protein Kinase 3)
    |
    KRAS mutation • BRAF mutation • CBL mutation
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    Avastin (bevacizumab) • 5-fluorouracil • leucovorin calcium
    4ms
    Pediatric Embryonal Rhabdomyosarcoma: An Integrated Study of Clinicopathological Features, Pan-cancer Targeted Next-generation Sequencing, and Chromosomal Microarray Analysis from a Single Institution. (PubMed, Virchows Arch)
    Gain of whole chromosome 2 is a frequent copy number alteration (64.3%) in pediatric ERMS. The concurrent homozygous loss of CDKN2A/B and TP53 in ERMS may be associated with diffuse anaplasia and portend a more adverse prognosis.
    Journal • Next-generation sequencing • Pan tumor
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    KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • NRAS (Neuroblastoma RAS viral oncogene homolog) • HRAS (Harvey rat sarcoma viral oncogene homolog) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • FGFR4 (Fibroblast growth factor receptor 4) • CTNNB1 (Catenin (cadherin-associated protein), beta 1) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D) • DICER1 (Dicer 1 Ribonuclease III)
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    TP53 mutation • KRAS mutation • NRAS mutation • PIK3CA mutation • HRAS mutation • CBL mutation
    4ms
    Case Report: Myelodysplastic/myeloproliferative neoplasm with concurrent SF3B1, ASXL1, JAK2 and CBL mutations and <15% bone marrow ringed sideroblasts. (PubMed, Front Oncol)
    This apparent genotype-phenotype discordance was attributed to clonal equilibrium (SF3B1 dominance suppressing ASXL1 leukemogenicity) and mutation-specific signaling attenuation (JAK2 R683G's suboptimal kinase activation). Our findings necessitate revision of therapeutic algorithms for molecularly complex, treatment-naive elderly patients, particularly in resource-limited settings where socioeconomic factors critically influence management strategies.
    Journal
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    JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • GATA1 (GATA Binding Protein 1)
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    ASXL1 mutation • SF3B1 mutation • CBL mutation
    5ms
    Landscape and clinicopathologic features of RAS pathway mutations in chronic myelomonocytic leukemia. (PubMed, Blood Adv)
    RASMT predicted for shorter overall-survival (HR 1.55, 95% CI 1.15-2.07, p=0.0075) and leukemia-free survival (LFS, HR 1.67, 95% CI 1.26-2.20, p=0.0011), influenced outcomes of myelodysplastic and TET2 mutant CMML and cooperated with IDH2 and RUNX1 mutations to induce shorter LFS. This data sets the bases for refined genomic classifications of CMML and underscores the need to develop RAS-directed therapies for patients with CMML.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • SETBP1 (SET Binding Protein 1)
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    KRAS mutation • BRAF mutation • IDH2 mutation • KIT mutation • RUNX1 mutation • RAS mutation • TET2 mutation • CBL mutation • SRSF2 mutation
    5ms
    Germline and somatic genetic landscape of pediatric myelodysplastic syndromes. (PubMed, Haematologica)
    Understanding the unique genetic profile of pediatric MDS has implications for diagnosis, therapy, donor selection and longterm surveillance, particularly for patients with germline predisposition syndromes. This review discusses current classification systems (WHO and ICC), provides a detailed overview of the germline and somatic genetic landscape of pediatric MDS, and highlights clinical implications of these genetic alterations.
    Journal
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    KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SETBP1 (SET Binding Protein 1)
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    KRAS mutation • NPM1 mutation • ASXL1 mutation • CBL mutation
    6ms
    Evaluating discordant somatic calls across mutation discovery approaches to minimize false negative drug-resistant findings. (PubMed, J Mol Diagn)
    For drug-related biomarkers, Sentieon TNscope tended to underestimate tumor mutation burden and overlook crucial drug-resistance mutations such as FLT3 (c.G1879A: p.A627T) for cytarabine resistance in leukemia and MAP2K1 (c.G199A:p.D67N) for BRAF inhibitors in melanoma. The findings highlight the importance of robust bioinformatic analysis in identifying tumor mutations and guiding clinical decision-making.
    Journal • Tumor mutational burden
    |
    TMB (Tumor Mutational Burden) • FLT3 (Fms-related tyrosine kinase 3) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • PIK3CB (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta)
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    CBL mutation
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    cytarabine