^
    2d
    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)
    14d
    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
    17d
    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)
    1m
    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
    2ms
    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
    2ms
    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)
    2ms
    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
    2ms
    Concurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1. (PubMed, Pediatr Blood Cancer)
    One notable feature of this cohort is that eight patients (89%) harbored nonsense germline NF1 variants. This case series highlights the emergence of synchronous or metachronous malignancies in children with NF1 and provides a rationale for heightened awareness of this phenomenon.
    Journal
    |
    NF1 (Neurofibromin 1)
    2ms
    Consensus on Malignant and Benign Tumors in Pediatric Patients with Neurofibromatosis Type 1: On Behalf of the Brazilian Society of Pediatric Oncology (SOBOPE). (PubMed, Curr Oncol)
    The consensus made 24 recommendations: gliomas in the optic pathway-6 statements, non-optical gliomas-2 statements, plexiform neurofibromas-5 statements, malignant peripheral nerve sheath tumors (MPNST)-6 statements, melanoma-1 statement, juvenile myelomonocytic leukemia (JMML)-1 statement, pheochromocytoma and paraganglioma-2 statements, and gastrointestinal stromal tumors (GIST)-1 statement. This consensus represents the first Brazilian recommendations on malignant and benign tumors in pediatric patients with NF1, providing a framework to standardize and optimize the clinical application for this disease.
    Clinical guideline • Journal
    |
    NF1 (Neurofibromin 1)
    2ms
    Juvenile myelomonocytic leukemia stem cells are sensitive to NK cell-mediated lysis and express targetable antigens. (PubMed, Blood Neoplasia)
    CD34+CD38- JMML stem cells express a broad repertoire of NK cell ligands similar to that of acute myeloid leukemia stem cells; and CD33, CD44, and CD47 were expressed by both CD34+CD38- stem cells and CD34+CD38+ progenitors in JMML. This suggests that JMML may be responsive to NK cell-mediated activity, and that targeting CD33, CD44, or CD47 may facilitate eradication of JMML.
    Journal • IO biomarker
    |
    CD47 (CD47 Molecule) • CD33 (CD33 Molecule) • CD34 (CD34 molecule)
    3ms
    Neurofibromatosis type 1-associated tumors in children. (PubMed, Turk J Pediatr)
    The identification of patients with NF1 and their interittent follow-up are important for the early detection of potential complications, especially tumorigenesis. This review aimed to summarize NF1-associated tumors in pediatric patients and recently developed targeted therapies for treating these tumors.
    Review • Journal
    |
    NF1 (Neurofibromin 1)
    4ms
    Novel humanized loss-of-function NF1 mouse model of juvenile myelomonocytic leukemia. (PubMed, Blood Adv)
    Importantly, NF1LOF cells displayed marked GM-CSF hypersensitivity in in vitro colony-forming unit assays - mirroring JMML; when transplanted into NSG-SGM3 mice, they caused rapid lethality, (median survival of 32 days), myeloid expansion, tissue infiltration (spleen, liver, and lungs), and specific upregulation of RAS/MAPK pathway and STAT5 genes, consistent with patient profiles. This first humanized NF1LOF mouse model recapitulates key JMML features, enabling investigation of disease mechanisms and targeted therapies.
    Preclinical • Journal
    |
    NF1 (Neurofibromin 1) • CSF2 (Colony stimulating factor 2)
    |
    RAS mutation