NUP93 mutation

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Entrez ID:

over1year

Targeted gene sequencing and transcriptome sequencing reveal characteristics of NUP98 rearrangement in pediatric acute myeloid leukemia. (PubMed, Eur J Med Res)

These investigations contribute to the understanding of the molecular characteristics, risk stratification, and prognostic evaluation of pediatric AML patients.

over 1 year ago

Journal

FLT3 (Fms-related tyrosine kinase 3) • WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2)

FLT3-ITD mutation • WT1 mutation • NUP93 mutation • NUP98 rearrangement

2years

Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression. (PubMed, Eur J Med Genet)

Menin inhibitors in combination with standard chemotherapy or other targeting agents may enhance anti-leukemic effects and constitute rational treatment strategies for select genotypes of childhood AML, and provide enhanced safety to avoid differentiation syndrome. In this review, we discuss the pathophysiological mechanisms in KMT2A-r, NUP98-r and NPM1c AML, emerging molecules targeting the HOXA/MEIS1 transcription program with menin inhibitors as the most prominent examples and future therapeutic implications of these agents in childhood AML.

2 years ago

Journal

NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • MEIS1 (Meis Homeobox 1)

NUP93 mutation

over2years

Revumenib Maintenance Therapy Following Revumenib-Induced Remission and Transplant (ASH 2023)

With 3 patients on revumenib maintenance therapy for more than a year, long-term responses, including conversion to MRD-negative status, were seen in these heavily pretreated patients with AML. Resuming revumenib post HSCT had a tolerable safety profile consistent with that previously reported for the AUGMENT-101 study.

over 2 years ago

Clinical

NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • NUP98 (Nucleoporin 98 And 96 Precursor 2)

NPM1 mutation • MLL rearrangement • NUP93 mutation

Revuforj (revumenib)

almost3years

Identification of a novel NPM1 mutation in acute myeloid leukemia. (ASCO 2023)

This patient carried WT1, IKZF1, JAK2, and NUP98 mutations, and was intravenously treated with daunorubicin plus cytarabine for induction followed by 3 cycles of intermediate-dose cytarabine as consolidation. Our finding of the novel NPM1 mutation in exon 5 supported that beside exon 12, exon 5 mutant is another NPM1 “born to be exported” mutant critical for leukemogenesis.

almost 3 years ago

IO biomarker

NPM1 (Nucleophosmin 1) • JAK2 (Janus kinase 2) • IKZF1 (IKAROS Family Zinc Finger 1) • WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • XPO1 (Exportin 1) • NES (Nestin)

NPM1 mutation • JAK2 mutation • NUP93 mutation

cytarabine • daunorubicin

almost3years

PEDIATRIC PURE ERYTHROID LEUKEMIA – AN ONGOING DIAGNOSTIC AND THERAPEUTIC CONUNDRUM (ASPHO 2023)

She received induction chemotherapy as per AAML1831 with daunorubicin, cytarabine, and gemtuzumab...She progressed through three additional salvage regimens including decitabine-CLAG (cladribine, cytarabine), TVTC (topotecan, vinorelbine, thiotepa, clofarabine), and venetoclax/azacitidine... Pure erythroid leukemia is an essentially fatal AML subtype often delayed in diagnosis due to its complex morphology and inherent refractoriness to standard AML therapies. More research is needed to understand the disease's pathophysiology and incorporate novel therapies.

almost 3 years ago

Clinical

KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDH1 (Cadherin 1) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • CD34 (CD34 molecule) • TFRC

NUP93 mutation

Venclexta (venetoclax) • azacitidine • decitabine • vinorelbine tartrate • Mylotarg (gemtuzumab ozogamicin) • daunorubicin • clofarabine • topotecan • cladribine • thiotepa

3years

Expanding Molecular Spectrum of Quadruple Wild-type GIST and GIST-like Tumors: NGS study of a Series of 17 Cases (USCAP 2023)

Our study revealed 6 new cases of quadruple wild-type GIST or GIST-like tumors with possible oncogenic driver alterations (2.4 % of all our archival cases of GIST). While the case with BCOR-CCNB3 fusion rather represents a CD117-positive GIST-like BCOR -rearranged sarcoma, the remaining 5 cases probably belong to the category of true quadruple wild-type GIST. Whereas mutations in MAX and TP53 were already described previously, we are not aware of any study reporting on mutations of ATM , GNAQ and NUP93 in GIST.

3 years ago

Clinical • Next-generation sequencing

EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • TP53 (Tumor protein P53) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • FGFR1 (Fibroblast growth factor receptor 1) • ARID1A (AT-rich interaction domain 1A) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • NF1 (Neurofibromin 1) • GNAQ (G Protein Subunit Alpha Q) • ETV6 (ETS Variant Transcription Factor 6) • BCOR (BCL6 Corepressor) • FGF4 (Fibroblast growth factor 4) • ANO1 (Anoctamin 1) • CHD4 (Chromodomain Helicase DNA Binding Protein 4) • NUP93 (Nucleoporin 93) • MAX (MYC Associated Factor X)

TP53 mutation • KRAS mutation • EGFR mutation • BRAF mutation • ATM mutation • KIT mutation • NF1 mutation • RAS mutation • FGFR1 mutation • CBL mutation • PDGFRA mutation • NUP93 mutation • PDGFR wild-type

TruSight Oncology 500 Assay • Archer® FusionPlex® Sarcoma kit

over4years

NUP-98 Rearrangements Led to the Identification of Candidate Biomarkers for Primary Induction Failure in Pediatric Acute Myeloid Leukemia. (PubMed, Int J Mol Sci)

We confirmed, by qRT-PCR, the overexpression of nine DEGs, selected on the bases of the diagnostic accuracy, in a local cohort of PIF patients: SPINK2, TMA7, SPCS2, CDCP1, CAPZA1, FGFR1OP2, MAN1A2, NT5C3A and SRP54. In conclusion, the integrated analysis of NUP98 mutational analysis and transcriptome profiles allowed the identification of novel putative biomarkers for the prediction of PIF in AML.

over 4 years ago

Clinical • Journal

NUP98 (Nucleoporin 98 And 96 Precursor 2) • FGFR1OP2 (FGFR1 Oncogene Partner 2)

NUP93 mutation