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    BIOMARKER:

    NUP98-NSD1 fusion

    i
    Other names: NUP98, Nucleoporin 98 And 96 Precursor 2, Nuclear Pore Complex Protein Nup98-Nup96 2, Nucleoporin 98kDa, Nucleoporin 96, Nup98-Nup96, Nup98-96, NUP96, Nuclear Pore Complex Protein Nup98, GLFG-Repeat Containing Nucleoporin, NUP98/PHF23 Fusion 2 Protein, Nucleoporin 98kD, Nucleoporin 98, NUP196, ADIR2, ADAR2, NSD1, Nuclear Receptor Binding SET Domain Protein 1, ARA267, KMT3B, Histone-Lysine N-Methyltransferase H3 Lysine-36 Specific, Nuclear Receptor-Binding SET Domain-Containing Protein 1, Androgen Receptor-Associated Protein Of 267 KDa, Androgen Receptor Coactivator 267 KDa Protein, NR-Binding SET Domain-Containing Protein, Lysine N-Methyltransferase 3B, H3-K36-HMTase, Histone-Lysine N-Methyltransferase H3 Lysine-36 And H4 Lysine-20 Specific, Truncated Nuclear Receptor Binding SET Domain Protein 1, Nuclear Receptor SET Domain-Containing Protein 1, Androgen Receptor-Associated Coregulator 267, Sotos Syndrome, H4-K20-HMTase, FLJ22263, SOTOS1, SOTOS, NSD1, STO
    Entrez ID:
    4928; 64324
    Related biomarkers:
    Mutation
    Fusion
    Others
    11ms
    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=140, Active, not recruiting, St. Jude Children's Research Hospital | Recruiting --> Active, not recruiting
    Enrollment closed
    |
    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 • WT1 mutation • MLL fusion • NUP98-NSD1 fusion
    |
    cyclophosphamide • Blincyto (blinatumomab) • melphalan • fludarabine IV • thiotepa • Neupogen (filgrastim)
    1year
    ETV6-ABL1 Fusion Gene Was Associated with a Poor Prognosis in Patients with Acute Myeloid Leukemia (ASH 2023)
    All there patients received the same IA regimen(idarubicincytarabine) as induction chemotherapy and achieved complete remission, followed by multi-agent chemotherapy as consolidation treatment...1 received additional targeted therapy with sorafenib... ETV6-ABL1 fusion gene is a rare but recurrent genetic aberration in AML, and its rearrangement is not uniform across eachpatient, typically involving cryptic insertions. Routine chromosome G-banding analysis may not identify this fusion gene, and the combined use of fluorescence in situ hybridization and PCR is recommended for better detection for ETV6-ABL1. Patients with this fusion gene have a high relapse rate and a poor prognosis.
    Clinical
    |
    FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • ETV6 (ETS Variant Transcription Factor 6) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
    |
    FLT3-ITD mutation • ABL1 fusion • ETV6-ABL1 fusion • NUP98-NSD1 fusion
    |
    dasatinib • sorafenib • idarubicin hydrochloride
    2years
    Clinical and Functional Implications of MYC Variants As a New Class of Pathogenic Variants in AML (ASH 2022)
    Here we define MYC aberrations as a new class of pathogenic variants in childhood AML. We demonstrate functional and clinical characterization of a novel MYC-ITD and contrast this novel variant to that of established pathogenic MYCSNV/indel. We show the high prevalence of co-occurring core-binding factor fusions with MYC-ITD, and high frequency of co-occurring NUP98-NSD1, FLT3-ITD and NPM1 mutations in MYCSNV/indel.
    Clinical
    |
    FLT3 (Fms-related tyrosine kinase 3) • MYC (V-myc avian myelocytomatosis viral oncogene homolog) • NPM1 (Nucleophosmin 1) • WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
    |
    FLT3-ITD mutation • NPM1 mutation • FLT3‐ITD  + NPM1 mutation • NUP98-NSD1 fusion
    2years
    Refractory pediatric acute myeloid leukemia expressing NUP98-NSD1 fusion gene responsive to chemotherapy combined with venetoclax and decitabine. (PubMed, Pediatr Blood Cancer)
    No abstract available
    Journal
    |
    NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
    |
    NUP98-NSD1 fusion
    |
    Venclexta (venetoclax) • decitabine
    over2years
    SMARCA5 interacts with NUP98-NSD1 oncofusion protein and sustains hematopoietic cells transformation. (PubMed, J Exp Clin Cancer Res)
    NUP98-NSD1 interacts and colocalizes on the genome with SMARCA5 which is an essential mediator of the NUP98-NSD1 transformation in hematopoietic cells. Formation of NUP98-NSD1 phase-separated nuclear condensates is not sufficient for the maintenance of transformed phenotype, which suggests that selective targeting of condensate constituents might represent a new therapeutic strategy for NUP98-NSD1 driven AML.
    Journal
    |
    FLT3 (Fms-related tyrosine kinase 3) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
    |
    FLT3-ITD mutation • NUP98-NSD1 fusion
    3years
    Distinct Clinicopathologic Features of NUP98 Rearranged/Altered Acute Leukemia: A Single Institution Experience (USCAP 2022)
    Our results demonstrated a spectrum of cytogenetically cryptic NUP98 rearranged acute leukemia in children and young adults with poor prognosis, co-operation between NUP98-NSD1 fusion and FLT3-ITD in AML whereas novel NUP98-MLLT1 fusion and other gene mutations in ALAL-NOS. Importantly, caution is required in interpreting FISH result of the NUP98 probe and abnormal finding to be confirmed by NGS study. Remarkably, our case with apparently false NUP98 alteration exhibited the characteristic feature of a rare subtype of pediatric AML carrying a cytogenetically cryptic CBFA2T3-GLIS2 fusion: a peculiar immunophenotype and dismal prognosis.
    Clinical
    |
    FLT3 (Fms-related tyrosine kinase 3) • NF1 (Neurofibromin 1) • CD19 (CD19 Molecule) • KMT2D (Lysine Methyltransferase 2D) • BCOR (BCL6 Corepressor) • CD22 (CD22 Molecule) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • CD34 (CD34 molecule) • NCAM1 (Neural cell adhesion molecule 1) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • GLIS2 (GLIS Family Zinc Finger 2) • MLLT1 (MLLT1 Super Elongation Complex Subunit)
    |
    NF1 mutation • CBFA2T3 - GLIS2 fusion • MLL fusion • NUP98-NSD1 fusion