^
    2d
    A Study to Find the Highest Dose of Imetelstat in Combination With Fludarabine and Cytarabine for Patients With AML, MDS or JMML That Has Come Back or Does Not Respond to Therapy (clinicaltrials.gov)
    P1, N=36, Recruiting, Children's Oncology Group | Trial completion date: Jun 2026 --> Mar 2028 | Trial primary completion date: Jun 2026 --> Mar 2028
    Trial completion date • Trial primary completion date
    |
    NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    |
    RAS mutation • CBL mutation
    |
    cytarabine • methotrexate • leucovorin calcium • fludarabine IV • Rytelo (imetelstat) • Starasid (cytarabine ocfosfate)
    6d
    Clinical and Genetic Characterization of Noonan Syndrome in a Colombian Pediatric Cohort. (PubMed, J Clin Res Pediatr Endocrinol)
    These findings underscore the genetic heterogeneity of NS and emphasize the importance of early molecular diagnosis to guide clinical management. Multidisciplinary follow-up is essential due to the risks of growth failure, cardiac anomalies, and malignancies.
    Journal
    |
    KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • NF1 (Neurofibromin 1) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • RAF1 (Raf-1 Proto-Oncogene Serine/Threonine Kinase) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)
    20d
    Successful Haplo-Hematopoietic Stem Cell Transplantation for Juvenile Myelomonocytic Leukemia in a Child With Underlying Thrombocytopenia-Absent Radius Syndrome: A Unique Case. (PubMed, Cancer Rep (Hoboken))
    This case represents, to our knowledge, one of the very few-if not the first-reported instances of successful HSCT for JMML in a patient with TAR syndrome. It underscores the importance of vigilant surveillance in TAR patients for potential malignant transformation and demonstrates the curative potential of HSCT in rare congenital-hematologic overlap syndromes.
    Journal
    |
    NF1 (Neurofibromin 1) • RBM8A (RNA Binding Motif Protein 8A)
    |
    RAS mutation
    |
    cyclophosphamide • melphalan • Grafapex (treosulfan)
    29d
    US Study of ECT-001-CB in Pediatric and Young Adult Patients With High-Risk Myeloid Malignancies (clinicaltrials.gov)
    P1/2, N=13, Completed, ExCellThera inc. | Recruiting --> Completed | Trial completion date: Jun 2027 --> Dec 2025 | Trial primary completion date: Jun 2026 --> Dec 2025
    Trial completion • Trial completion date • Trial primary completion date
    |
    HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • CD34 (CD34 molecule)
    |
    cyclophosphamide • clofarabine • fludarabine IV • thiotepa • busulfan • Zemcelpro (dorocubicel)
    1m
    SL03-OHD-104: Phase 1 Study of Shattuck Labs (SL)-172154 in Subjects With MDS or AML (clinicaltrials.gov)
    P1, N=106, Terminated, Shattuck Labs, Inc. | Completed --> Terminated; Development discontinued
    Trial termination
    |
    TP53 (Tumor protein P53)
    |
    TP53 mutation
    |
    Venclexta (venetoclax) • azacitidine • SL-172154
    2ms
    HAP2HCT: TCRαβ-depleted Progenitor Cell Graft With Additional Memory T-cell DLI, Plus Selected Use of Blinatumomab, in Naive T-cell Depleted Haploidentical Donor Hematopoietc Cell Transplantation for Hematologic Malignancies (clinicaltrials.gov)
    P2, N=69, Active, not recruiting, St. Jude Children's Research Hospital | N=140 --> 69 | Trial completion date: Aug 2025 --> Jun 2026
    Enrollment change • Trial completion date
    |
    FLT3 (Fms-related tyrosine kinase 3) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • ETV6 (ETS Variant Transcription Factor 6) • WT1 (WT1 Transcription Factor) • CREBBP (CREB binding protein) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • HOXA9 (Homeobox A9) • NUP214 (Nucleoporin 214) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • GLIS2 (GLIS Family Zinc Finger 2) • KAT6A (Lysine Acetyltransferase 6A) • KDM5A (Lysine Demethylase 5A) • DEK (DEK Proto-Oncogene) • AFDN (Afadin, Adherens Junction Formation Factor) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor)
    |
    FLT3-ITD mutation
    |
    cyclophosphamide • Blincyto (blinatumomab) • melphalan • fludarabine IV • mesna • thiotepa • Neupogen (filgrastim)
    2ms
    CD45RA Depleted Peripheral Stem Cell Addback for Viral or Fungal Infections Post TCRαβ/CD19 Depleted HSCT (clinicaltrials.gov)
    P=N/A, N=50, Recruiting, Children's Hospital of Philadelphia | Trial completion date: Jun 2027 --> Feb 2028 | Trial primary completion date: Jun 2026 --> Feb 2027
    Trial completion date • Trial primary completion date
    |
    cyclophosphamide
    2ms
    APAL2020SC: The Pediatric Acute Leukemia (PedAL) Screening Trial - A Study to Test Bone Marrow and Blood in Children With Leukemia That Has Come Back After Treatment or Is Difficult to Treat - A Leukemia & Lymphoma Society and Children's Oncology Group Study (clinicaltrials.gov)
    P1/2, N=960, Recruiting, PedAL BCU, LLC | Trial completion date: Dec 2028 --> Dec 2030 | Trial primary completion date: Dec 2028 --> Dec 2030
    Trial completion date • Trial primary completion date
    |
    KMT2A (Lysine Methyltransferase 2A)
    3ms
    HKCH-REC-2020-012: Advanced Translational Research on Childhood Leukemia (clinicaltrials.gov)
    P=N/A, N=300, Recruiting, Chinese University of Hong Kong | N=150 --> 300 | Trial completion date: Jun 2026 --> Jun 2028 | Trial primary completion date: Jun 2026 --> Jun 2028
    Enrollment change • Trial completion date • Trial primary completion date
    4ms
    A Phase 1 Trial of CIML NK Cell Infusion for Myeloid Disease Relapse After Hematopoietic Cell Transplantation (clinicaltrials.gov)
    P1, N=50, Recruiting, Dana-Farber Cancer Institute | Active, not recruiting --> Recruiting | Trial completion date: Dec 2025 --> Dec 2026 | Trial primary completion date: Dec 2025 --> Dec 2026
    Enrollment open • Trial completion date • Trial primary completion date
    |
    IL2 (Interleukin 2)
    |
    cyclophosphamide • fludarabine IV • CIML NK
    4ms
    Understanding Molecular Basis of PTPN11-Related Diseases. (PubMed, ArXiv)
    In this study, we investigate the molecular basis underlying the differential pathogenicity of PTPN11 missense variants and predict the structural consequences of these variants using MutPred2 and AlphaFold2. We find that LOF and GOF variants display distinct functional mechanisms in sodium and DNA binding, and that NS-associated missense variants identified in fetuses with ultrasound-detected anomalies and familiar cases are more likely to be pathogenic.
    Journal
    |
    PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11)
    4ms
    CBL-Mutated Juvenile Myelomonocytic Leukaemia With Loss of Heterozygosity on 11q Detected by Microarray: Not Always Such a Favourable Outcome. (PubMed, Int J Lab Hematol)
    CN-LOH was confirmed by single nucleotide polymorphism array. This patient presented with an aggressive clinical course and required an allogeneic stem cell transplant.
    Journal
    |
    CBL (Cbl proto-oncogene)
    |
    CBL mutation