^
Contact us  to learn more about
our Premium Content:  News alerts, weekly reports and conference planners
BIOMARKER:

PHF6 mutation

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
Entrez ID:
2ms
Clinical analysis of allogeneic hematopoietic stem cell transplantation for seven cases of acute myeloid leukemia with BCR::ABL1 fusion (PubMed, Zhonghua Xue Ye Xue Za Zhi)
In addition, allo-HSCT could enhance the molecular response rate. Maintenance therapy post-HSCT with TKI could improve prognosis.
Journal
|
ABL1 (ABL proto-oncogene 1) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PHF6 (PHD Finger Protein 6)
|
NPM1 mutation • RUNX1 mutation • ASXL1 mutation • PHF6 mutation • ABL1 fusion
3ms
Molecular and clinical analyses of PHF6 mutant myeloid neoplasia provide their pathogenesis and therapeutic targeting. (PubMed, Nat Commun)
Finally, we demonstrate a negative prognostic role of PHF6MT, especially in association with RUNX1. The negative effects on survival are additive as PHF6MT cases with RUNX1 mutations have worse outcomes when compared to cases carrying single mutation or wild-type.
Journal
|
RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • PHF6 (PHD Finger Protein 6)
|
RUNX1 mutation • ASXL1 mutation • U2AF1 mutation • PHF6 mutation
6ms
Genomic Mutation Profiles of Patients with Acute Myeloid Leukemia in Korea: a Single-Center Experience. (PubMed, Clin Lab)
Clinical and prognostic correlations were observed according to genomic mutation profiles detected by NGS in Korean patients with AML. An NGS study with a larger cohort of patients would be beneficial to establish the significant prognostic impact on patients with AML.
Journal
|
TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • IKZF1 (IKAROS Family Zinc Finger 1) • SRSF2 (Serine and arginine rich splicing factor 2) • WT1 (WT1 Transcription Factor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • PHF6 (PHD Finger Protein 6) • SH2B3 (SH2B Adaptor Protein 3)
|
TP53 mutation • NRAS mutation • FLT3 mutation • NPM1 mutation • DNMT3A mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation • SF3B1 mutation • SRSF2 mutation • U2AF1 mutation • PHF6 mutation
7ms
NGS-Based Stratification Refines the Risk Stratification in T-ALL and Identifies a Very High-Risk Subgroup of Patients (ASH 2023)
This model identifies 3 subgroups at CR1: a large favorable Risk (CR1-FAV) group (231/332, 70%) with CIR at 5 years estimated at 19% (95%CI:14%-24%) (Figure B), a subgroup of Adverse risk (CR1-ADV) patients (30/332, 9%) with a 5-year CIR of 68% (95%CI:46%-82%) and an Intermediate risk (CR1-INT) group (71/332, 21%) with a 5-year CIR of 37% (95%CI:26%-48%). Conclusion T-ALL NGS-based stratification combined with WBC and MRD evaluation sharpens the prognostic classification in T-ALL and identifies a new subgroup of adverse risk patients who should benefit from innovative therapeutic approaches.
Clinical • Next-generation sequencing
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • PTEN (Phosphatase and tensin homolog) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • NOTCH1 (Notch 1) • IKZF1 (IKAROS Family Zinc Finger 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • EP300 (E1A binding protein p300) • PHF6 (PHD Finger Protein 6)
|
TP53 mutation • PTEN mutation • DNMT3A mutation • FBXW7 mutation • PHF6 mutation • EP300 mutation
7ms
Cytokine and Mutation Profiling Reveal Patterns of Complete Remission Rates with Lenzilumab Combination Therapy in Chronic Myelomonocytic Leukemia (ASH 2023)
Introduction: Chronic myelomonocytic leukemia (CMML) is characterized by accumulation of classical CD14+CD16- inflammatory monocytes driven in part by hypersensitivity to granulocyte-macrophage colony-stimulating factor (GM-CSF), a pro-inflammatory cytokine. CMML is a disorder of profound innate immune activation, driven by GM-CSF and other pro-inflammatory cytokines. Early treatment with LENZ/AZA, a precision immunotherapeutic approach, leads to a) efficacy in INNATE-1 that exceeds historical CR rates for hypomethylating agents1,2; and b) evolving efficacy in INNATE-2, in which pro-inflammatory activity is more robust. Xu Y, Guo R, Miao M, Zhang G, Lan J, Jin J. Real-world data on efficacy and safety of azacitidine therapy in chronic myelomonocytic leukemia in China: results from a multicenter, retrospective study.
Clinical • Combination therapy • IO biomarker
|
KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IFNG (Interferon, gamma) • TNFA (Tumor Necrosis Factor-Alpha) • SRSF2 (Serine and arginine rich splicing factor 2) • WT1 (WT1 Transcription Factor) • CD14 (CD14 Molecule) • CSF2 (Colony stimulating factor 2) • PHF6 (PHD Finger Protein 6) • IL17A (Interleukin 17A) • CX3CL1 (C-X3-C Motif Chemokine Ligand 1) • IL1B (Interleukin 1, beta) • CRP (C-reactive protein)
|
KRAS mutation • RAS mutation • CBL mutation • SRSF2 mutation • WT1 mutation • PHF6 mutation
|
azacitidine • LENZ (lenzilumab)
7ms
Transient Differentiation-State Plasticity during Initiation of Pediatric Acute Lymphoblastic Leukemia (ASH 2023)
Moreover, we reveal the ability of the LIC to differentiate and de-differentiate after leukemia initiation. Taken together our results demonstrate a transient period of plasticity during leukemia initiation where phenotypic switches appear unidirectional.
Clinical
|
NOTCH1 (Notch 1) • CD8 (cluster of differentiation 8) • CD4 (CD4 Molecule) • PHF6 (PHD Finger Protein 6) • CD7 (CD7 Molecule) • LMO2 (LIM Domain Only 2) • TLX1 (T Cell Leukemia Homeobox 1)
|
PHF6 mutation
9ms
Genomic signatures and prognosis of advanced stage Chinese pediatric T cell lymphoblastic lymphoma by whole exome sequencing. (PubMed, Front Pediatr)
Although T-ALL and T-LBL both originate from precursor T-cells and are considered different manifestations of the same disease and the outcome of T-LBL is favorable when using T-ALL-based chemotherapy, there are differences in the gene distribution between T-LBL and T-ALL. It seems that the PI3K-Akt signaling pathway and the USP34 gene play important roles in T-LBL, but medicines targeting the USP34 gene or the PI3K-Akt pathway may be invalid.
Journal • Metastases
|
NOTCH1 (Notch 1) • MAP2K2 (Mitogen-activated protein kinase kinase 2) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • JAK3 (Janus Kinase 3) • PHF6 (PHD Finger Protein 6) • USP34 (Ubiquitin Specific Peptidase 34)
|
NOTCH1 mutation • FBXW7 mutation • JAK3 mutation • PHF6 mutation
10ms
Characteristics of molecular genetic mutations and their correlation with prognosis in adolescent and adult patients with ALL. (PubMed, Oncology)
 The distribution of gene mutations and the co-occurrence and repulsion of mutant genes in patients with ALL were closely related to the immunophenotype of the patients. The number of mutations ≥5 and the RELN mutation were significantly associated with poor prognosis in adolescent and adult patients with ALL.
Journal
|
FLT3 (Fms-related tyrosine kinase 3) • PTEN (Phosphatase and tensin homolog) • NOTCH1 (Notch 1) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2D (Lysine Methyltransferase 2D) • FAT1 (FAT atypical cadherin 1) • JAK1 (Janus Kinase 1) • JAK3 (Janus Kinase 3) • PHF6 (PHD Finger Protein 6) • RELN (Reelin)
|
PTEN mutation • NOTCH1 mutation • TET2 mutation • KMT2D mutation • JAK3 mutation • PHF6 mutation • RELN mutation
12ms
R274X-mutated Phf6 increased the self-renewal and skewed T cell differentiation of hematopoietic stem cells. (PubMed, iScience)
RNA-sequencing analysis confirmed that Phf6 mutation altered the expression of key genes involved in HSC self-renewal and T cell activation. Our study demonstrated that Phf6 plays a critical role in fine-tuning T cells and HSC homeostasis.
Journal
|
PHF6 (PHD Finger Protein 6)
|
PHF6 mutation
1year
NEXT-GENERATION SEQUENCING-BASED GENOMIC PROFILING OF CHILDREN WITH ACUTE MYELOID LEUKEMIA. (PubMed, J Mol Diagn)
Comparison of the mutational landscape at diagnosis and relapse revealed an enrichment of mutations in tumor suppressor genes (16.2% vs. 44.4%) and transcription factors (35.1 vs. 55.6%) at relapse. Our findings shed further light on the heterogeneity of pediatric AML and identified previously unappreciated alterations that may lead to improved molecular characterization and risk stratification of pediatric AML.
Journal • Next-generation sequencing
|
KRAS (KRAS proto-oncogene GTPase) • TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • WT1 (WT1 Transcription Factor) • KDM6A (Lysine Demethylase 6A) • STAG2 (Stromal Antigen 2) • CUX1 (cut like homeobox 1) • PHF6 (PHD Finger Protein 6) • BCORL1 (BCL6 Corepressor Like 1)
|
TP53 mutation • KDM6A mutation • STAG2 mutation • WT1 mutation • PHF6 mutation
1year
Journal
|
PHF6 (PHD Finger Protein 6)
|
PHF6 mutation
1year
PHF6 promotes the progression of endometrial carcinoma by increasing cancer cells growth and decreasing T-cell infiltration. (PubMed, J Cell Mol Med)
Thus, PHF6 could be a potential biomarker in predicting the prognosis of UCEC patients. Depletion of PHF6 may be a novel therapeutic strategy for UCEC patients.
Journal
|
PHF6 (PHD Finger Protein 6) • IL32 (Interleukin 32)
|
PHF6 mutation
over1year
Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia. (PubMed, BMC Pediatr)
This study depicted the specific genomic landscape of Chinese pediatric ALL and revealed the relevance between mutational spectrum and clinical features of Chinese pediatric ALL, which highlights the need for molecular classification, risk stratification, and prognosis evaluation.
Journal
|
KRAS (KRAS proto-oncogene GTPase) • FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PTEN (Phosphatase and tensin homolog) • NOTCH1 (Notch 1) • ETV6 (ETS Variant Transcription Factor 6) • KMT2D (Lysine Methyltransferase 2D) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • PIK3R1 (Phosphoinositide-3-Kinase Regulatory Subunit 1) • PHF6 (PHD Finger Protein 6)
|
KRAS mutation • FLT3 mutation • PTEN mutation • NOTCH1 mutation • KMT2D mutation • PHF6 mutation • PIK3R1 mutation
over1year
Journal
|
TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • PHF6 (PHD Finger Protein 6)
|
TP53 mutation • NRAS mutation • LDH elevation • PHF6 mutation
over1year
Molecular and Clinical PHF6 Mutant Myeloid Neoplasia Provides Clues As to Their Pathogenesis and Therapeutic Targeting (ASH 2022)
This is also in line with higher frequency of PHF6MT in sAML. Some PHF6MT cases have higher expression of lymphoid genes, which may be candidate for molecular targeted therapy.
Clinical
|
DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • ATRX (ATRX Chromatin Remodeler) • KDM6A (Lysine Demethylase 6A) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • LY9 (Lymphocyte Antigen 9) • PHF6 (PHD Finger Protein 6) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2) • BLNK (B Cell Linker)
|
DNMT3A mutation • RUNX1 mutation • ASXL1 mutation • SRSF2 mutation • U2AF1 mutation • PHF6 mutation
over1year
ASXL1 Mutations Predict Inferior Molecular Response to Nilotinib Treatment in Newly Diagnosed Patients with Chronic Myeloid Leukemia in Chronic Phase (ASH 2022)
In newly diagnosed CML patients in chronic phase, mutations in addition to BCR::ABL1 were frequently identified at diagnosis and were found to vary in their dynamics during treatment. ASXL1 mutations were most common and affected patients showed MMR less frequently at month 12, 18, and 24 compared to all other patients. ASXL1 may, after further validation, serve as an additional prognostic factor for molecular response in newly diagnosed CML patients.
Clinical
|
TP53 (Tumor protein P53) • ABL1 (ABL proto-oncogene 1) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • IKZF1 (IKAROS Family Zinc Finger 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • WT1 (WT1 Transcription Factor) • ATRX (ATRX Chromatin Remodeler) • BCOR (BCL6 Corepressor) • KDM6A (Lysine Demethylase 6A) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • STAG2 (Stromal Antigen 2) • CUX1 (cut like homeobox 1) • GNAS (GNAS Complex Locus) • GATA2 (GATA Binding Protein 2) • PHF6 (PHD Finger Protein 6) • CALR (Calreticulin) • BCORL1 (BCL6 Corepressor Like 1)
|
TP53 mutation • DNMT3A mutation • ASXL1 mutation • TET2 mutation • CBL mutation • U2AF1 mutation • STAG2 mutation • PHF6 mutation
|
Tasigna (nilotinib)
over1year
Conditional Knock-out of Phf6 Decreases CD44 Expression on Naïve CD4+ T Cells and Skews the Differentiation Toward Regulatory T Cells in Mice (ASH 2022)
2015) In conclusion, we show that Phf6 is a novel regulator of Treg cells perhaps through ADAP and glycolysis pathways. We will further explore the functions and mechanisms of the Phf6 on T cell regulation.
Preclinical
|
CD8 (cluster of differentiation 8) • IFNG (Interferon, gamma) • IL2RA (Interleukin 2 receptor, alpha) • CD44 (CD44 Molecule) • IL2 (Interleukin 2) • PHF6 (PHD Finger Protein 6) • TGFB1 (Transforming Growth Factor Beta 1) • ENO1 (Enolase 1) • FOXP3 (Forkhead Box P3) • VAV1 (Vav Guanine Nucleotide Exchange Factor 1)
|
CD44 expression • PHF6 mutation
over1year
Prognostic Relevance of Adult Acute Myeloid Leukemia Patients According to the 2022 European Leukemianet Risk Stratification (ASH 2022)
We proposed a refined ELN-2022 risk stratification, which re-categorized AML with t(7; 11)(p15; p15)/NUP98–HOXA9 or co-mutated DNMT3A and FLT3-ITD as adverse risk and AML with t(6; 9)(p23; q34.1)/DEK-NUP214 as intermediate risk. Refined ELN-2022 system not only worked well for OS, but also better stratified intermediate and adverse groups in terms of RFS.
Clinical
|
FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • HOXA9 (Homeobox A9) • NUP214 (Nucleoporin 214) • GATA2 (GATA Binding Protein 2) • PHF6 (PHD Finger Protein 6) • DEK (DEK Proto-Oncogene)
|
FLT3-ITD mutation • IDH2 mutation • KIT mutation • DNMT3A mutation • TET2 mutation • PHF6 mutation
over1year
PHF6 mutation is associated with poor outcome in acute myeloid leukaemia. (PubMed, Cancer Med)
Our data revealed that PHF6 mutation was associated with a lower chemotherapy response and shorter survival, suggesting that PHF6 mutation is a predictor of poor prognosis in AML.
Journal
|
PHF6 (PHD Finger Protein 6)
|
PHF6 mutation
over1year
Acute myeloid leukemia with myelodysplasia-related changes and blasts of the mixed T/myeloid phenotype: a case report. (PubMed, J Int Med Res)
In accordance with the treatment principles of AML-MRC, we chose an AML-like regimen for four cycles, but the patient did not achieve remission. Finally, we adhered to the treatment principles of mixed phenotype acute leukemia, and he achieved remission after a course of ALL-like regimen chemotherapy.
Journal
|
TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • PHF6 (PHD Finger Protein 6)
|
TP53 mutation • NRAS mutation • ASXL1 mutation • PHF6 mutation
over1year
The Role of PHF6 in Hematopoiesis and Hematologic Malignancies. (PubMed, Stem Cell Rev Rep)
PHF6 maintains a chromatin structure that is permissive to B-cell identity genes, but not T-cell-specific genes (left). Loss of PHF6 leads to aberrant expression of B-cell- and T-cell-specific genes resulting from lineage promiscuity and binding of T-cell transcription factors (right).
Review • Journal
|
PHF6 (PHD Finger Protein 6)
|
PHF6 mutation
almost2years
PHF6 functions as a tumor suppressor by recruiting methyltransferase SUV39H1 to nucleolar region and offers a novel therapeutic target for PHF6-muntant leukemia. (PubMed, Acta Pharm Sin B)
The specific rDNA transcription inhibitor CX5461 significantly reduced the resistance of U937 AML cells deficient in PHF6 to cytarabine, the drug that is most commonly used to treat AML. Collectively, we revealed a novel molecular mechanism by which PHF6 recruits methyltransferase SUV39H1 to the nucleolar region in leukemia and provided a potential therapeutic target for PHF6-mutant leukemia.
Journal
|
PHF6 (PHD Finger Protein 6)
|
PHF6 mutation
|
cytarabine • pidnarulex (CX-5461)
almost2years
Plexiform Neurofibroma With Activating KRAS Mutation and Segmental Presentation Involving the Unilateral Eyelid. (PubMed, Ophthalmic Plast Reconstr Surg)
While suggestive of segmental neurofibromatosis, genetic analysis revealed activating KRAS mutation and inactivating mutation in PHF6 with no evidence of NF1 mutation in germline or tumor tissue. Neither KRAS nor PHF6 have been previously reported in association with neurofibroma.
Journal
|
KRAS (KRAS proto-oncogene GTPase) • NF1 (Neurofibromin 1) • PHF6 (PHD Finger Protein 6)
|
KRAS mutation • NF1 mutation • PHF6 mutation
almost2years
Gene Mutations Related to Glucocorticoid Resistance in Pediatric Acute Lymphoblastic Leukemia. (PubMed, Front Pediatr)
Upon statistical analysis, TTN and NOTCH1 mutations were found to be associated with prednisone resistance...Our study is the first to demonstrate the association between TTN mutation and glucocorticoid resistance in ALL. Our findings could guide strategies for overcoming drug resistance and aid in the development of drug targets.
Journal
|
TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • NOTCH1 (Notch 1) • FBXW7 (F-Box And WD Repeat Domain Containing 7) • MUC16 (Mucin 16, Cell Surface Associated) • PHF6 (PHD Finger Protein 6)
|
TP53 mutation • NOTCH1 mutation • MUC16 mutation • PHF6 mutation • TTN mutation
|
prednisone
almost2years
Genomic landscape of T-cell lymphoblastic lymphoma. (PubMed, Chin J Cancer Res)
Of utmost interest is that co-existence of PHF6 and NOTCH1 mutation status might provide an alternative for early therapeutic stratification in T-LBL. Together, our findings will not only provide new insights into the molecular and genetic mechanisms of T-LBL, but also have tangible implications for clinical practice.
Journal
|
NOTCH1 (Notch 1) • RUNX1 (RUNX Family Transcription Factor 1) • WT1 (WT1 Transcription Factor) • JAK1 (Janus Kinase 1) • JAK3 (Janus Kinase 3) • PHF6 (PHD Finger Protein 6)
|
NOTCH1 mutation • PHF6 mutation
almost2years
CRLF2 overexpression defines an immature-like subgroup which is rescued through restoration of the PRC2 function in T-cell precursor acute lymphoblastic leukaemia. (PubMed, Genes Chromosomes Cancer)
We identified that IKZF1 transcripts with intron retention were upregulated in the CRLF2-high subgroup. Here, we delineated the gene expression profile of CRLF2-high T-ALL samples and unravelled the crucial role of PRC2 in CRLF2 regulation in ETP-ALL.
Journal
|
PTEN (Phosphatase and tensin homolog) • RUNX1 (RUNX Family Transcription Factor 1) • CRLF2 (Cytokine Receptor Like Factor 2) • IKZF1 (IKAROS Family Zinc Finger 1) • JAK3 (Janus Kinase 3) • PHF6 (PHD Finger Protein 6)
|
PTEN mutation • RUNX1 mutation • EZH2 mutation • CRLF2 overexpression • JAK3 mutation • PHF6 mutation
almost2years
Transcriptional expressions of hsa-mir-183 predicted target genes as independent indicators for prognosis in bladder urothelial carcinoma. (PubMed, Aging (Albany NY))
PDCD6, GNG5, PHF6, MAL2, SLC25A15 and PTDSS1 could be the advanced independent indicators for prognosis of BLCA patients, and TP53-mutation might be a biomarker for drug option in BLCA patients.
Journal
|
TP53 (Tumor protein P53) • PHF6 (PHD Finger Protein 6) • MAL2 (Mal, T Cell Differentiation Protein 2) • MIR183 (MicroRNA 183)
|
TP53 mutation • PHF6 mutation
2years
Oncogenesis induced by combined Phf6 and Idh2 mutations through increased oncometabolites and impaired DNA repair. (PubMed, Oncogene)
Single-cell RNA sequencing revealed distinct patterns of transcriptome of the hematopoietic stem/progenitor cells from the combined mutated mice, including aberrant expression of metabolic enzymes, increased expression of several oncogenes, and impairment of DNA repairs, as confirmed by the enhanced γH2AX expression in the marrow and spleen cells. We conclude that Idh2 and Phf6 mutations are synergistic in leukemogenesis, at least through overproduction of 2-hydroxyglutarate and impairment of DNA repairs.
Journal
|
IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • PHF6 (PHD Finger Protein 6)
|
IDH1 mutation • IDH2 mutation • PHF6 mutation • IDH2 R172
2years
Journal
|
NOTCH1 (Notch 1) • PHF6 (PHD Finger Protein 6)
|
NOTCH1 mutation • PHF6 mutation
over2years
Emergence of clone with PHF6 nonsense mutation in chronic myelomonocytic leukemia at relapse after allogeneic HCT. (PubMed, Int J Hematol)
Ubiquitination of histone H2B at lysine residue 120 (H2BK120ub) at relapse was significantly decreased at the protein level, indicating that PHF6 loss might downregulate a TNF-α signaling pathway by reduction of H2BK120ub. This case illustrates that PHF6 loss contributes to a competitive advantage for the clone under stress conditions and leads to relapse after HCT.
Journal
|
TNFA (Tumor Necrosis Factor-Alpha) • CD14 (CD14 Molecule) • PHF6 (PHD Finger Protein 6) • H2BC8 (H2B Clustered Histone 8)
|
PHF6 mutation
over2years
Clinical, Pathologic and Genetic Findings in Acute Myeloid Leukemia with NF1 Mutation (USCAP 2022)
Our study indicates that NF1 mutation in AML is uncommon and characterized by frequent co-mutation with PHF6 and poor prognosis compared to the normal karyotype AML patients. Our findings suggest that this may represent a distinct entity and should be considered to have different clinical outcome.
Clinical
|
FLT3 (Fms-related tyrosine kinase 3) • NRAS (Neuroblastoma RAS viral oncogene homolog) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • NF1 (Neurofibromin 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PTPN11 (Protein Tyrosine Phosphatase Non-Receptor Type 11) • SRSF2 (Serine and arginine rich splicing factor 2) • BCOR (BCL6 Corepressor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • PHF6 (PHD Finger Protein 6)
|
FLT3-ITD mutation • NPM1 mutation • DNMT3A mutation • NF1 mutation • U2AF1 mutation • PHF6 mutation