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GENE:

PHF6 (PHD Finger Protein 6)

i
Other names: PHF6, PHD Finger Protein 6, CENP-31, PHD-Like Zinc Finger Protein, Centromere Protein 31, KIAA1823, Borjeson-Forssman-Lehmann Syndrome, MGC14797, BFLS, BORJ
8d
ENO2 and BPTF axis drives tumor progression and macrophage polarization in T2DM-associated colorectal cancer. (PubMed, Pathol Res Pract)
These findings illustrate that targeting the ENO2-BPTF axis could be a promising strategy for T2DM-associated COAD.
Journal
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PHF6 (PHD Finger Protein 6)
11d
Big Tau: Structure, Evolutionary Divergence, and Emerging Roles in Cytoskeletal Dynamics and Tauopathies. (PubMed, Cells)
This review summarizes what is known about Big tau and what is missing toward a better understanding of how expansion via inclusion of exon 4a modifies tau's structural and functional properties. Our purpose is to inspire future studies that could lead to novel therapeutic strategies to mitigate tau aggregation in neurodegenerative diseases.
Review • Journal
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PHF6 (PHD Finger Protein 6) • MAPT (Microtubule Associated Protein Tau)
19d
The effects of the PHF6 gene mutation on myeloid neoplasms. A single-center cohort underpinned by a systematic review of literature. (PubMed, Ann Hematol)
There were no significant differences in time to blast transformation or time to next treatment depending on PHF6 gene status. According to the results of most studies published to date (SR), PHF6MUT has a prognostic role in MNs; our results are consistent in terms of clinical outcomes, but these marginal effects should be interpreted with caution in the context of existing prognostic models given the limitations of the small sample size.
Retrospective data • Review • Journal
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PHF6 (PHD Finger Protein 6)
21d
Mesothelin Expression in Acute Leukemia: Correlations With Immunophenotype, Cytogenetics, and Mutational Status. (PubMed, Appl Immunohistochem Mol Morphol)
In AML, it correlated with CD33 expression and inv(16)/t(16;16). In conclusion, mesothelin is rare in ALL but enriched in specific AML subtypes and not prognostic for survival.
Journal • IO biomarker
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NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • KMT2A (Lysine Methyltransferase 2A) • MSLN (Mesothelin) • CD38 (CD38 Molecule) • KDM6A (Lysine Demethylase 6A) • CD33 (CD33 Molecule) • GATA2 (GATA Binding Protein 2) • PHF6 (PHD Finger Protein 6) • ITGAX (Integrin Subunit Alpha X) • CBLC (Cbl Proto-Oncogene C)
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NPM1 mutation • CBL mutation
28d
Phf6 truncating mutation drives leukemogenesis via disrupted epigenetic regulation in mice. (PubMed, Leukemia)
Treatment with CTx-648, a KAT6A/KAT6B inhibitor, restored HSC function in Phf6R274XTg mice and prolonged the survival of leukemic Phf6R274XTg mice. These findings demonstrate a gain-of-function effect for truncated PHF6aa1-273 in driving leukemogenesis and highlight KAT6B as a promising therapeutic target in PHF6 truncation-associated hematologic malignancies.
Preclinical • Journal
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PHF6 (PHD Finger Protein 6) • KAT6A (Lysine Acetyltransferase 6A) • KAT6B (Lysine Acetyltransferase 6B)
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CTx-648
28d
Clonal Evolution and Lineage Switch from T-Cell Acute Lymphoblastic Leukemia to Acute Myeloid Leukemia in Therapy-Resistant PICALM::MLLT10 Leukemia. (PubMed, EJHaem)
The sequential acquisition of cooperating genetic lesions supports clonal evolution and highlights the need for molecular monitoring and novel therapeutic strategies. The authors have confirmed clinical trial registration is not needed for this submission.
Journal
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NF1 (Neurofibromin 1) • PHF6 (PHD Finger Protein 6) • MLLT10 (MLLT10 Histone Lysine Methyltransferase DOT1L Cofactor) • SMC1A (Structural Maintenance Of Chromosomes 1A)
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EZH2 mutation • Chr del(5q)
1m
Systematic Pan-Cancer Analysis Identifies PHF6 as an Immunological and Prognostic Biomarker. (PubMed, Diagnostics (Basel))
Additionally, the depletion of PHF6 inhibited cell proliferation in both liver and pancreatic cancer cells. PHF6 expression was closely associated with the occurrence and development of many types of cancer, and it might promote cancer progression by inhibiting the function of the immune microenvironment, while knockout of PHF6 significantly inhibited the tumor cells proliferation.
Journal • Tumor mutational burden • Pan tumor
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TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • PHF6 (PHD Finger Protein 6)
2ms
Correlation between epigenetic modifier gene mutations and prognosis of patients with acute lymphoblastic leukemia: a systematic review and meta-analysis. (PubMed, Hematology)
In addition, patients with KMT2A mutation had shorter OS compared to those with wild type (HR, 4.605; P = 0.045), whereas other EMMs had no impact on prognosis in any type of ALL. Mutations in DNMT3A, IDH, PHF6 and KMT2A showed a significant prognostic effect in ALL or in its specific subtypes, which might contribute to risk stratification and treatment guidance in the management of ALL patients.
Clinical • Retrospective data • Review • Journal
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DNMT3A (DNA methyltransferase 1) • KMT2A (Lysine Methyltransferase 2A) • PHF6 (PHD Finger Protein 6)
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KMT2A mutation • MLL mutation
3ms
CNS Involvement-positive Disease in Consolidation/Maintenance Stage is a Poor Prognostic Factor in Pediatric T-ALL: A Chinese Single-center Report. (PubMed, Oncologist)
CNSI+ disease, especially in the consolidation/maintenance stage, was an independent poor prognostic factor in pediatric T-ALL. HSCT partially improved outcomes of children with T-ALL. Individualized treatment strategies containing a combination of immunotherapy and targeted therapy in addition to chemotherapy may improve patient outcomes.
Journal • IO biomarker
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TP53 (Tumor protein P53) • IKZF1 (IKAROS Family Zinc Finger 1) • PHF6 (PHD Finger Protein 6) • RELN (Reelin)
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TP53 mutation
4ms
Natural L-Hexapeptides with Therapeutic Potential for Alzheimer's Disease and Tauopathies. (PubMed, ACS Omega)
Unlike related peptides classified as amyloids, the leads were found to be completely innocuous to neuroblastoma cell lines, even at high concentrations. Hexapeptides selected as leads are promising candidates for therapeutic purposes and can be used to develop molecules for biochemical diagnosis and probes for positron emission tomography (PET) imaging in the context of tauopathies, particularly Alzheimer's disease.
Journal
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PHF6 (PHD Finger Protein 6)
4ms
Rare case of PLAG1::RUNX1 fusion mimicking classical t(8;21): the value of optical genome mapping in acute myeloid leukemia. (PubMed, Mol Cytogenet)
PLAG1 is a rare translocation partner of RUNX1 in AML, mistaken for classical t(8;21) on conventional karyotyping. The rare reported cases of PLAG1::RUNX1 suggest a distinctly poor prognosis, highlighting the importance of accurate diagnosis and the role of OGM in our practice.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • PHF6 (PHD Finger Protein 6) • PLAG1 (PLAG1 Zinc Finger)
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RUNX1-RUNX1T1 fusion
4ms
B/T Mixed Phenotype Acute Leukaemia Harbouring NUP98::BPTF Fusion. (PubMed, EJHaem)
This is the first case study characterizing the clinicopathological and genomic features of B/T MPAL harboring NUP98::BPTF fusion and providing insights into molecular pathogenesis. The authors have confirmed clinical trial registration is not needed for this submission.
Journal
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NOTCH1 (Notch 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • PHF6 (PHD Finger Protein 6)