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GENE:

NSD1 (Nuclear Receptor Binding SET Domain Protein 1)

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Other names: 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
18d
2-Aminobenzothiazole: A Privileged Scaffold for Tyrosine Kinase-Targeted Anticancer Agents. (PubMed, Zhongguo Ying Yong Sheng Li Xue Za Zhi)
Also underscored are the existence of commercially available drugs and patented compounds, as well as translational candidates featuring the 2-aminobenzothiazole pharmacophore. The paper emphasises the dual mechanistic targetability of 2-aminobenzothiazole derivatives as valuable lead compounds targeting both kinases and other targets in an innovative manner aimed at future development of targeted anti-cancer therapies.
Review • Journal • IO biomarker
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EGFR (Epidermal growth factor receptor) • TP53 (Tumor protein P53) • BCL2 (B-cell CLL/lymphoma 2) • KDR (Kinase insert domain receptor) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • CSF1R (Colony stimulating factor 1 receptor) • FTO (Alpha-Ketoglutarate-Dependent Dioxygenase FTO) • HSP90AA1 (Heat Shock Protein 90 Alpha Family Class A Member 1Heat Shock Protein 90 Alpha Family Class A Member 1)
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TP53 mutation
20d
Identification of cellular hierarchy in paediatric acute myeloid leukaemia: The Japan Children's Cancer Group trial (JCCG AML-12). (PubMed, Br J Haematol)
LSPC-Cycle, FLT3-ITD and NUP98::KDM5A were considered independent prognostic factors in multivariate analysis. Findings indicate the prognostic relevance of cellular hierarchy and the importance of integrating hierarchy-specific molecular profiles for improved risk stratification and treatment formulation.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • MECOM (MDS1 And EVI1 Complex Locus) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • NUP214 (Nucleoporin 214) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • GATA1 (GATA Binding Protein 1) • GLIS2 (GLIS Family Zinc Finger 2) • KDM5A (Lysine Demethylase 5A) • MLLT3 (MLLT3 Super Elongation Complex Subunit)
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FLT3-ITD mutation
1m
Targeting epithelial-mesenchymal transition and apoptosis: novel histone methyltransferase inhibitors for colon cancer suppression. (PubMed, Bioorg Med Chem)
Finally, non-cancerous human cell lines and the zebrafish embryotoxicity model were utilized for the evaluation of the drug safety of DHT-07343 and DHT-07171. In conclusion, our study demonstrated that DHT-07343 and DHT-07171 could be promising HMT inhibitors that exhibit anti-cancer activities by suppressing cell proliferation and migration, providing a potential strategy for colon cancer therapy.
Journal
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NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
1m
Identification of cryptic KMT2A-PTD and other novel fusion genes by transcriptome sequencing alters molecular risk stratification in AML-NK. (PubMed, J Mol Med (Berl))
Fusion-based ELN 2022 reclassified most intermediate-risk patients. RNA-seq enhances prognostic assessment in AML-NK.
Journal
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NPM1 (Nucleophosmin 1) • KMT2A (Lysine Methyltransferase 2A) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • HOXA9 (Homeobox A9) • LATS2 (Large Tumor Suppressor Kinase 2)
2ms
NUP98 rearrangements in adult AML patients: evaluation of clinical implications and identification of novel fusion partners. (PubMed, Leukemia)
Allogeneic hematopoietic stem cell transplantation was associated with better survival, underscoring its significance. These findings reveal the genetic and clinical heterogeneity of NUP98-rearranged AML in adults and support its classification as a distinct entity, highlighting the need for fusion partner-specific therapeutic strategies.
Journal
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FLT3 (Fms-related tyrosine kinase 3) • NPM1 (Nucleophosmin 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • HOXA9 (Homeobox A9) • MEOX2 (Mesenchyme Homeobox 2)
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FLT3-ITD mutation • NPM1 mutation • TET2 mutation
2ms
Case Report: SMARCA4-deficient NSCLC with brain metastasis harboring co-mutations in chromatin remodeling and DNA damage repair pathways. (PubMed, Front Oncol)
This molecular signature implies potential synergistic effects between chromatin instability, compromised DNA damage repair mechanisms, and augmented immunogenicity. Through comprehensive genomic analysis, we elucidate the biological significance of this mutational landscape and discuss its therapeutic implications, aiming to advance precision diagnosis and guide innovative treatment strategies for SMARCA4-DNSCLC.
Journal • Tumor mutational burden
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TP53 (Tumor protein P53) • TMB (Tumor Mutational Burden) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • BARD1 (BRCA1 Associated RING Domain 1) • CHD8 (Chromodomain Helicase DNA Binding Protein 8) • SMARCD3 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily D, Member 3)
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TP53 mutation • TMB-H • BARD1 mutation
3ms
Ontogeny Dictates Oncogenic Potential, Lineage Hierarchy, and Therapy Response in Pediatric Leukemia. (PubMed, Cancer Discov)
This study signifies the critical consequences of developmental timing in cancer initiation, revealing that identical driver mutations in fetal- versus postnatal-origin leukemias exhibit fundamentally distinct biology and treatment responses. Recognizing these developmental differences opens avenues for personalized therapeutic strategies, improving outcomes for pediatric patients with aggressive disease subtypes in leukemia.
Journal
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WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
3ms
Using genomics to refine pediatric AML risk stratification. (PubMed, Hematology Am Soc Hematol Educ Program)
Key issues ahead include identifying which genetic features truly affect outcomes, using this information to personalize therapy, predicting who will benefit from targeted drugs, and choosing the best markers to track disease response over time. Looking forward, collaborative efforts are urgently needed to validate pediatric-specific biomarkers, test novel drug combinations, and link genetic data to clinical outcomes to design trials and future treatment strategies.
Review • Journal • IO biomarker
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TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • BCL2 (B-cell CLL/lymphoma 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • KMT2A (Lysine Methyltransferase 2A) • WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • CBFA2T3 (CBFA2/RUNX1 Partner Transcriptional Co-Repressor 3) • GLIS2 (GLIS Family Zinc Finger 2)
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TP53 mutation • KMT2A rearrangement
3ms
NSD Family-Mediated H3K36 Methylation in Human Cancer: Mechanisms and Therapeutic Opportunities. (PubMed, Biomedicines)
Pharmacological inhibition of NSD catalytic activity, as well as alternative approaches such as targeted protein degradation or disruption of cofactor interactions, are emerging as promising therapeutic strategies for cancer treatment. This review summarizes the structural features, molecular functions, and cancer-associated alterations and mechanisms of the NSD family and highlights recent advances in targeting these enzymes as potential epigenetic vulnerabilities in cancer.
Review • Journal
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NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • NSD3 (Nuclear Receptor Binding SET Domain Protein 3) • NSD2 (Nuclear Receptor Binding SET Domain Protein 2)
3ms
Genetic composition and evolutionary trajectories of brain metastasis in non-small-cell lung cancer. (PubMed, Lung Cancer)
Our study provides a comprehensive overview of genetic alterations specific to primary NSCLC, unique to BM, and shared between both sites, which may contribute to BM formation affecting various evolutionary trajectories.
Journal
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EGFR (Epidermal growth factor receptor) • KRAS (KRAS proto-oncogene GTPase) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • NF1 (Neurofibromin 1) • KMT2D (Lysine Methyltransferase 2D) • FAT1 (FAT atypical cadherin 1) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
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KRAS mutation
4ms
Familial NSD1 Exon 3 Deletion Associated with Phenotypic and Epigenetic Variability. (PubMed, Genes (Basel))
A familial germline exon 3 NSD1 deletion was associated with mild Sotos syndrome phenotype with variable expressivity and a DNA methylation episignature that was less marked in milder cases than in individuals with classical Sotos syndrome. These findings support the use of methylation episignature analysis to explore intrafamilial variability in chromatin disorders.
Journal
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NSD1 (Nuclear Receptor Binding SET Domain Protein 1)
4ms
Discovery metabolomics and genetic analysis reveal lipid pathway alterations associated with malignant phenotype acquisition in pleomorphic adenoma and a novel NTF3::ITPR2 fusion in carcinoma ex pleomorphic adenoma. (PubMed, Virchows Arch)
This study provides the first comprehensive metabolomic snapshot of malignant phenotype acquisition in PA. Identifying lipid metabolic dysregulation and a novel NTF3::ITPR2 gene fusion highlights potential diagnostic biomarkers and unveils actionable pathways that could be translated into targeted and personalized therapies for salivary gland tumors.
Journal • IO biomarker • Metabolomic study
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TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • ARID1A (AT-rich interaction domain 1A) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • CHEK1 (Checkpoint kinase 1) • FOXA1 (Forkhead Box A1) • GATA2 (GATA Binding Protein 2) • IRF4 (Interferon regulatory factor 4) • LZTR1 (Leucine Zipper Like Transcription Regulator 1)