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BIOMARKER:

TET2 mutation

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Other names: TET2, Tet Methylcytosine Dioxygenase 2, KIAA1546, Methylcytosine Dioxygenase TET2, Tet Oncogene Family Member 2, Probable Methylcytosine Dioxygenase TET2, MDS
Entrez ID:
Related biomarkers:
9h
Tet2 is a tumor suppressor in the pre-leukemic phase of T-cell acute lymphoblastic leukemia. (PubMed, Blood Adv)
In contrast to the pre-leukemic thymocytes from CD2-Lmo2tg mice, Lck-Cretg/+ Ptenfl/fl thymi do not display self-renewal suggesting that the anti-leukemic effect of Tet2 occurs mainly in the pre-leukemic phase of T-ALL. In conclusion, we demonstrated that the Tet2 tumor suppressor function is dependent on the differentiation stage of T-ALL and limited to the pre-leukemic phase.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2) • CD2 (CD2 Molecule)
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TET2 mutation
3d
Natural history of clonal haematopoiesis seen in real-world haematology settings. (PubMed, Br J Haematol)
The mean variant allele frequency across all genes was higher in progressors than in non-progressors (36.9% ± 4.62% vs. 24.1% ± 1.67%, p = 0.0064). This analysis in the post-CHRS era underscores the natural history of CH, providing insight into patterns of progression to MN.
Journal • Real-world evidence • Real-world
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DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • RUNX1 mutation • ASXL1 mutation • TET2 mutation
7d
Genomic profiling of Mycosis Fungoides identifies patients at high risk of disease progression. (PubMed, Blood Adv)
By analyzing the clonal heterogeneity and the clonal evolution of the cohort, we defined different phylogenetic pathways of the disease with acquisition of JUNB, gain10p15.1 (IL2RA and IL15RA), or del12p13.1 (CDKN1B) at progression. These results establish the genomics and clonality of MF and identify potential patients at risk of progression, independent of their clinical stage.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2) • IL2RA (Interleukin 2 receptor, alpha) • TNFAIP3 (TNF Alpha Induced Protein 3) • CDKN1B (Cyclin dependent kinase inhibitor 1B) • ZEB1 (Zinc Finger E-box Binding Homeobox 1) • JUNB (JunB Proto-Oncogene AP-1 Transcription Factor Subunit)
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TET2 mutation
7d
Therapy-related chronic myelomonocytic leukemia does not have the high-risk features of a therapy-related neoplasm. (PubMed, Blood Adv)
Compared to a cohort of therapy-related myelodysplastic syndrome, tCMML had lower TP53 mutation frequency (12% vs 44.4%, P <.001) and less unfavorable outcomes. In summary, tCMML does not exhibit the high-risk features and poor outcomes of t-MNs.
Journal
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TP53 (Tumor protein P53) • NRAS (Neuroblastoma RAS viral oncogene homolog) • NF1 (Neurofibromin 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SETBP1 (SET Binding Protein 1)
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TP53 mutation • NF1 mutation • TET2 mutation • CBL mutation • SETBP1 mutation
7d
Multiomic Profiling of Human Clonal Hematopoiesis Reveals Genotype and Cell-Specific Inflammatory Pathway Activation. (PubMed, Blood Adv)
Additionally, patients harboring DNMT3A and TET2 CH mutations possessed a pro-inflammatory profile in CD14+ monocytes through previously unrecognized pathways such as galectin and macrophage Inhibitory Factor (MIF). We also found that T cells from CH patients, though mostly un-mutated, had decreased expression of GTPase of the immunity associated protein (GIMAP) genes, which are critical to T cell development, suggesting that CH impairs T cell function.
Journal
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DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CD14 (CD14 Molecule)
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DNMT3A mutation • TET2 mutation
10d
Ascorbic Acid and Combination Chemotherapy for the Treatment of Relapsed or Refractory Lymphoma or CCUS (clinicaltrials.gov)
P2, N=55, Recruiting, Mayo Clinic | Trial completion date: Mar 2024 --> Mar 2026 | Trial primary completion date: Mar 2024 --> Dec 2025
Trial completion date • Trial primary completion date
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IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • BCL2 (B-cell CLL/lymphoma 2) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • SF3B1 (Splicing Factor 3b Subunit 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • CD4 (CD4 Molecule) • ZRSR2 (Zinc Finger CCCH-Type, RNA Binding Motif And Serine/Arginine Rich 2)
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IDH2 mutation • DNMT3A mutation • TET2 mutation • SF3B1 mutation • EZH2 mutation • SRSF2 mutation • U2AF1 mutation
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cisplatin • carboplatin • gemcitabine • Rituxan (rituximab) • cytarabine • cyclophosphamide • ifosfamide • oxaliplatin • etoposide IV • Hemady (dexamethasone tablets) • Starasid (cytarabine ocfosfate) • dexamethasone injection
21d
Chronic myelomonocytic leukemia: 2024 update on diagnosis, risk stratification and management. (PubMed, Am J Hematol)
Drug therapy is currently not disease-modifying and includes hydroxyurea and hypomethylating agents; a recent phase-3 study (DACOTA) comparing hydroxyurea and decitabine, in high-risk MP-CMML, showed similar overall survival at 23.1 versus 18.4 months, respectively, despite response rates being higher for decitabine (56% vs. 31%). These include systemic inflammatory autoimmune diseases, leukemia cutis and lysozyme-induced nephropathy; the latter requires close monitoring of renal function during leukocytosis and is a potential indication for cytoreductive therapy.
Journal
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DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2)
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DNMT3A mutation • ASXL1 mutation • TET2 mutation • SRSF2 mutation
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decitabine • hydroxyurea
22d
A comprehensive genomic profiling of myeloid malignancies demonstrates mutational spectrum of DNA variants, FLT3-ITDs, and gene fusions (AACR 2024)
The Oncomine Myeloid Assay is a fast, robust, and reproducible solution for comprehensive genomic profiling of myeloid malignancies. We describe the mutational spectrum of DNA variants and RNA fusions in a range of clinical research samples. (For research use only.
TP53 (Tumor protein P53) • FLT3 (Fms-related tyrosine kinase 3) • ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • FGFR1 (Fibroblast growth factor receptor 1) • DNMT3A (DNA methyltransferase 1) • MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • KMT2A (Lysine Methyltransferase 2A) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CREBBP (CREB binding protein) • CEBPA (CCAAT Enhancer Binding Protein Alpha) • ZMYM2 (Zinc Finger MYM-Type Containing 2) • CALR (Calreticulin) • KAT6A (Lysine Acetyltransferase 6A) • ANKRD26 (Ankyrin Repeat Domain Containing 26)
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FLT3-ITD mutation • ASXL1 mutation • TET2 mutation • SRSF2 mutation • FGFR1 fusion
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Oncomine Myeloid Assay GX • Oncomine Myeloid Research Assay
25d
TET2 mutation as prototypic clonal hematopoiesis lesion. (PubMed, Semin Hematol)
We also explored the therapeutic strategies of targeting TET2MT associated CHIP and the utility of targeting TET2 in normal hematopoiesis and somatic cell reprograming. We explore the biochemical mechanisms and candidate therapies that emerged in last decade of research.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation
26d
EBV+ nodal T/NK-cell lymphoma associated with clonal hematopoiesis and structural variations of the viral genome. (PubMed, Blood Adv)
The 3'-untranslated region of PD-L1 was truncated, causing a high-level of PD-L1 protein expression. Overall, the frequent TET2 and DNMT3A mutations in EBV+ nPTCL seem to be closely associated with clonal hematopoiesis and, together with the EBV genome deletions, may contribute to the pathogenesis of this intractable lymphoma.
Journal • PD(L)-1 Biomarker • IO biomarker
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PD-L1 (Programmed death ligand 1) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • RHOA (Ras homolog family member A)
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PD-L1 expression • DNMT3A mutation • TET2 mutation
27d
Clonal hematopoiesis and autoimmunity. (PubMed, Semin Hematol)
While the epidemiologic overlap between CH, hematologic malignancies, and atherosclerotic cardiovascular diseases has been reported, the mechanisms linking these concepts are largely unknown and merit much further investigation. Here, we review studies highlighting the interplay between CH, inflamm-aging, the immune system, and the prevalence of CH in autoimmune diseases.
Journal
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DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • TET2 mutation
1m
The crossroads of cancer therapies and clonal hematopoiesis. (PubMed, Semin Hematol)
As we progress, multidisciplinary collaboration and comprehensive studies are imperative. Understanding CH's impact, especially concerning genotoxic stressors, will inform screening, surveillance, and early detection strategies, decreasing the risk of therapy-related myeloid neoplasms and revolutionizing cancer treatment paradigms.
Journal • IO biomarker
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TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • PPM1D (Protein Phosphatase Mg2+/Mn2+ Dependent 1D)
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DNMT3A mutation • TET2 mutation
1m
Mechanisms of action and resistance in histone methylation-targeted therapy. (PubMed, Nature)
Here we show the potency and mechanisms of action and resistance of the EZH1-EZH2 dual inhibitor valemetostat in clinical trials of patients with adult T cell leukaemia/lymphoma...We identified subpopulations with distinct metabolic and gene translation characteristics implicated in primary susceptibility until the acquisition of the heritable (epi)mutations. Targeting epigenetic drivers and chromatin homeostasis may provide opportunities for further sustained epigenetic cancer therapies.
Journal • Epigenetic controller
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DNMT3A (DNA methyltransferase 1) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • TET2 mutation • PRC2 mutation
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Ezharmia (valemetostat)
1m
Enrollment open
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DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • IL6 (Interleukin 6) • IL18 (Interleukin 18)
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DNMT3A mutation • TET2 mutation
1m
Order-of-Mutation Effects on Cancer Progression: Models for Myeloproliferative Neoplasm. (PubMed, Bull Math Biol)
Our key proposal is that bistability in gene expression provides a natural explanation for many observed order-of-mutation effects. We also propose potential experimental measurements that can be used to confirm or refute predictions of our models.
Journal
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JAK2 (Janus kinase 2) • TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation • JAK2 V617F
1m
B-cell Lymphoproliferative Lesions Of The Thyroid Gland: An Immunohistochemical And Molecular Analysis (USCAP 2024)
These results suggest that HT, AHT and PTL are a continuum of the same process that can exhibit follicular or marginal zone growth patterns. A similar concept was described in pediatric follicular and marginal zone lymphomas. An acquisition of same mutations could be explained by sharing similar microenvironment in the thyroid gland of both tumors.
PD-L1 (Programmed death ligand 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • TNFRSF14 (TNF Receptor Superfamily Member 14)
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TET2 mutation
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TruSight Oncology 500 Assay
1m
Genomic and transcriptomic profiling of peripheral T cell lymphoma reveals distinct molecular and microenvironment subtypes. (PubMed, Cell Rep Med)
We also perform an unsupervised clustering on the microenvironment transcriptional signatures and categorize PTCL into 4 lymphoma microenvironment subtypes based on characteristic activation of oncogenic pathways and composition of immune communities. Our findings highlight the potential clinical rationale of future precision medicine strategies that target both molecular and microenvironment alterations in PTCL.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2) • RHOA (Ras homolog family member A)
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TET2 mutation
1m
TET2 mutations contribute to adverse prognosis in acute myeloid leukemia (AML): results from a comprehensive analysis of 502 AML cases and the Beat AML public database. (PubMed, Clin Exp Med)
Assessment of TET2 mutational status contributes to the stratification of intermediate-risk AML patients. Multiple genes and pathways of potential therapeutic relevance may be differentially modulated by TET2 mutations in AML.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation
2ms
The clinical characteristics, gene mutations and outcomes of myelodysplastic syndromes with diabetes mellitus. (PubMed, J Cancer Res Clin Oncol)
MDS patients with DM have an inferior prognosis which may due to higher infection incidence, with TET2 and SF3B1 mutations being more frequent in those cases.
Retrospective data • Journal
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SF3B1 (Splicing Factor 3b Subunit 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation • SF3B1 mutation
2ms
Age-related and organ-specific host mosaicism as a driver of dormant cancer cell awakening (AACR 2024)
This hypothesis has been explored in clinical trials data where the presence of CH in ER+ and HER2+ metastatic BC patient cohorts (MSK-IMPACT) was associated with the response to first line CDK4/6i/endocrine therapy or taxol/herceptin/pertuzumab, respectively. We also tested whether CH can accelerate dormant DCC awakening in a murine model of CH carrying mutations in DNMT3A (KO or point mutation) and HER2+ mammary cancer. We propose our work may provide unprecedented insights into how a traceable age-related-mosaicism in the bone marrow (CH) may shape distant organs to be drive metastatic relapse.
HER-2 (Human epidermal growth factor receptor 2) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CDK4 (Cyclin-dependent kinase 4)
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HER-2 mutation • DNMT3A mutation • ASXL1 mutation • TET2 mutation
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MSK-IMPACT
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Herceptin (trastuzumab) • paclitaxel • Perjeta (pertuzumab)
2ms
Focused Screening Identifies Different Sensitivities of Human TET Oxygenases to the Oncometabolite 2-Hydroxyglutarate. (PubMed, J Med Chem)
(R)-2-Hydroxyglutarate, an oncometabolite elevated in isocitrate dehydrogenase mutant cancer cells, showed different degrees of inhibition, with TET1 being less potently inhibited than TET3 and TET2, potentially reflecting the proposed role of TET2 mutations in tumorigenesis. The results highlight the tractability of TETs as drug targets and provide starting points for selective inhibitor design.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation
2ms
Trial completion
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TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation
2ms
Nonpreferential but Detrimental Accumulation of Macrophages With Clonal Hematopoiesis-Driver Mutations in Cardiovascular Tissues. (PubMed, Arterioscler Thromb Vasc Biol)
Bulk RNA sequencing revealed a proinflammatory gene profile of myeloid cells from DNMT3A or TET2 mutation carriers compared with those from noncarriers. Quantitatively, CHIP-mutated myeloid cells did not preferentially accumulate in cardiovascular tissues, but qualitatively, they expressed a more disease-prone phenotype.
Journal
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DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CCR2 (C-C Motif Chemokine Receptor 2)
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DNMT3A mutation • TET2 mutation
2ms
Essential thrombocythemia: 2024 update on diagnosis, risk stratification, and management. (PubMed, Am J Hematol)
In this regard, once-daily low-dose aspirin is advised for all patients and twice daily for low-risk disease. First-line cytoreductive drugs of choice are hydroxyurea and pegylated interferon-α and second-line busulfan. The current review includes specific treatment strategies in the context of extreme thrombocytosis, pregnancy, splanchnic vein thrombosis, perioperative care, and post-essential thrombocythemia MF, as well as new investigational drugs.
Journal
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TP53 (Tumor protein P53) • DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • SF3B1 (Splicing Factor 3b Subunit 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CALR (Calreticulin)
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TET2 mutation • JAK2 V617F • JAK2 mutation
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hydroxyurea • busulfan
2ms
Genomic classification and outcomes of young patients with polycythemia vera and essential thrombocythemia according to the presence of splanchnic vein thrombosis and its chronology. (PubMed, Ann Hematol)
In conclusion, clinical and molecular characteristics are different in PV/ET patients with SVT, depending on whether it occurs at diagnosis or at follow-up. Molecular characterization by NGS is useful for assessing the risk of thrombosis and disease progression in young patients with PV/ET.
Journal
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DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • ASXL1 mutation • TET2 mutation • JAK2 mutation
2ms
Recurrent Aortic Thromboembolism Associated With TET2 Mutation in Chronic Myelomonocytic Leukemia. (PubMed, J Investig Med High Impact Case Rep)
The increased atherogenicity is thought to be the result of increased production of pro-inflammatory interleukin-1β cytokines following activation of NLRP3 inflammasomes. We present a unique case of recurrent atherothrombosis in an elderly man who was diagnosed with chronic myelomonocytic leukemia in the setting of TET2 mutation.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2) • IL6 (Interleukin 6) • TET1 (Tet Methylcytosine Dioxygenase 1) • IL1B (Interleukin 1, beta) • NLRP3 (NLR Family Pyrin Domain Containing 3)
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TET2 mutation
2ms
Characterization of a Preclinical In Vitro Model Derived from a SMARCA4-Mutated Sinonasal Teratocarcinosarcoma. (PubMed, Cells)
Focusing on mutated SMARCA4 as the therapeutic target, growth inhibition assays showed a strong response to the CDK4/6 inhibitor palbociclib, but much less to the EZH1/2 inhibitor valemetostat. In conclusion, cell line TCS627 carries both histologic and genetic features characteristic of TCS and is a valuable model for both basic research and preclinical testing of new therapeutic options for treatment of TCS patients.
Preclinical • Journal
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CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • EZH2 (Enhancer of zeste 2 polycomb repressive complex 2 subunit) • TET2 (Tet Methylcytosine Dioxygenase 2) • SMARCA4 (SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily A, member 4) • NOTCH3 (Notch Receptor 3) • STAG2 (Stromal Antigen 2) • ARID2 (AT-Rich Interaction Domain 2) • WNT7A (Wnt Family Member 7A)
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TET2 mutation • SMARCA4 mutation • STAG2 mutation
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Ibrance (palbociclib) • Ezharmia (valemetostat)
2ms
Multiple Genomic Alterations, Including a Novel AFF4::IRF1 Fusion Gene, in a Treatment-Refractory Blastic Plasmacytoid Dendritic-Cell Neoplasm: A Case Report and Literature Review. (PubMed, Int J Mol Sci)
The patient showed resistance to Tagraxofusp and Venetoclax, and he died about 16 months after diagnosis. Considering the predicted effect of the AFF4::IRF1 fusion on IRF1's antitumor effects and immune regulation, and the possibility of its relevance to the aggressive course observed in this case, we propose further evaluation of the clinical significance of this fusion in BPDCN in future cooperative group studies and the consideration of therapeutic strategies aimed at restoring IRF1-dependent antineoplastic effects in such cases.
Clinical • Review • Journal
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MYD88 (MYD88 Innate Immune Signal Transduction Adaptor) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • AFF4 (AF4/FMR2 Family Member 4) • IRF1 (Interferon Regulatory Factor 1)
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ASXL1 mutation • TET2 mutation • IRF1 expression
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Venclexta (venetoclax) • Elzonris (tagraxofusp-erzs)
2ms
Neutrophil activation and clonal CAR-T re-expansion underpinning cytokine release syndrome during ciltacabtagene autoleucel therapy in multiple myeloma. (PubMed, Nat Commun)
Notably, CAR-T re-expansion is found in three patients, including a fatal case characterized by somatic TET2-mutation, clonal expanded cytotoxic CAR-T, broadened cytokine profiles and irreversible hepatic toxicity. Together, our findings show that a latent phase with distinct immunological changes precedes manifest CRS, providing an optimal window and potential targets for CRS therapeutic intervention and that CAR-T re-expansion warrants close clinical attention and laboratory investigation to mitigate the lethal risk.
Journal • IO biomarker
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TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation
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Carvykti (ciltacabtagene autoleucel)
3ms
Comprehensive Genomic Analysis of Patients With Non-Small-Cell Lung Cancer Using Blood-Based Circulating Tumor DNA Assay: Findings From the BFAST Database of a Single Center in Taiwan. (PubMed, JCO Precis Oncol)
NGS ctDNA analysis in comprehensive genetic testing improves actionable mutation identification, vital for treating Asian NSCLC cases with high actionable mutation rates. Lower stages correlated with undetected blood-based NGS ctDNA assay results.
Journal • Circulating tumor DNA
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EGFR (Epidermal growth factor receptor) • HER-2 (Human epidermal growth factor receptor 2) • KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • ALK (Anaplastic lymphoma kinase) • TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • RET (Ret Proto-Oncogene) • ROS1 (Proto-Oncogene Tyrosine-Protein Kinase ROS) • DNMT3A (DNA methyltransferase 1) • RB1 (RB Transcriptional Corepressor 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
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TP53 mutation • KRAS mutation • EGFR mutation • PIK3CA mutation • RET mutation • TET2 mutation • MET mutation
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FoundationOne® Liquid CDx
3ms
Droplet digital PCR for sensitive relapse detection in acute myeloid leukaemia patients transplanted by reduced intensity conditioning. (PubMed, Eur J Haematol)
These results confirm that qPCR targeting NPM1 mutations or fusion transcripts are superior in MRD testing. In the absence of such targets, ddPCR is a promising alternative demonstrating (a) high applicability, (b) high sensitivity, and (c) zero false positive MRD relapses in non-relapsing patients.
Journal
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NPM1 (Nucleophosmin 1) • DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • WT1 (WT1 Transcription Factor)
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NPM1 mutation • DNMT3A mutation • ASXL1 mutation • TET2 mutation • WT1 overexpression
3ms
Mutation characteristics of angioimmunoblastic T-cell lymphoma: an analysis of 75 cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
There were significant co-occurrence relationships between TET2 and RHOA, TET2 and IDH2, and RHOA and IDH2 gene mutations (P<0.05), respectively, while TET2 and KDM6B gene mutations were mutually exclusive (P<0.05). The study reveals the mutational characteristics of AITL patients using NGS technology, which would provide insights for molecular diagnosis and targeted therapy of AITL.
Journal
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IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • KMT2C (Lysine Methyltransferase 2C) • RHOA (Ras homolog family member A) • KDM6B (Lysine Demethylase 6B)
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IDH2 mutation • TET2 mutation
3ms
DNMT3A/TET2/ASXL1 mutations are an age-independent thrombotic risk factor in polycythemia vera patients: an observational study. (PubMed, Thromb Haemost)
Our results support the use of molecular testing at diagnosis to help predict which PV patients are at higher risk of developing thrombosis.
Observational data • Journal
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DNMT3A (DNA methyltransferase 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • ASXL1 mutation • TET2 mutation
3ms
Distinct clinico-molecular arterial and venous thrombosis scores for myeloproliferative neoplasms risk stratification. (PubMed, Leukemia)
Our study pinpoints arterial and venous thrombosis clinico-molecular differences and proposes an arterial risk score for more accurate patients' stratification. Further improvement of venous risk scores, accounting for additional factors and considering venous thrombosis as a heterogeneous entity is warranted.
Journal
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DNMT3A (DNA methyltransferase 1) • JAK2 (Janus kinase 2) • TET2 (Tet Methylcytosine Dioxygenase 2)
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DNMT3A mutation • TET2 mutation • JAK2 mutation
3ms
Ten-Eleven-Translocation Genes in Cancer. (PubMed, Cancer Treat Res)
How does TET2 mutation cooperate with partner lesions to cause transformation? And how do TET mutations affect immune responses in solid cancers.
Journal
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TET2 (Tet Methylcytosine Dioxygenase 2)
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TET2 mutation
3ms
Clinical and histological study of follicular helper T-cell lymphomas with indolent evolution. (PubMed, Eur J Cancer)
We described a series of 15 well-characterized TFHL patients with an indolent outcome, suggesting that a watch-and-wait approach can be proposed in selected patients. Identifying factors predicting such evolution is warranted.
Journal
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IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • RHOA (Ras homolog family member A)
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DNMT3A mutation • TET2 mutation • IDH2 R172 • RHOA G17V
3ms
Clonal Hematopoiesis of Indeterminate Potential in Chronic Thromboembolic Pulmonary Hypertension: A Multicenter Study. (PubMed, Hypertension)
Moreover, patients with CHIP mutations showed higher circulating interleukin-1β and interleukin-6 and lower interleukin-4 and IgG galactosylation levels. This is the first study to show that CHIP mutations occurred in 9.4% of patients with CTEPH are associated with a severe inflammatory state and confer a poorer prognosis in long-term follow-up.
Clinical • Journal
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DNMT3A (DNA methyltransferase 1) • RUNX1 (RUNX Family Transcription Factor 1) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • IL6 (Interleukin 6) • IL1B (Interleukin 1, beta) • IL4 (Interleukin 4)
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DNMT3A mutation • TET2 mutation
3ms
Selinexor in Combination With R-CHOP Followed by Selinexor Maintenance for Untreated EBV-positive DLBCL Patients (clinicaltrials.gov)
P1/2, N=54, Recruiting, Sun Yat-sen University | Trial primary completion date: Mar 2024 --> Dec 2024
Trial primary completion date • Combination therapy • IO biomarker
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PD-L1 (Programmed death ligand 1) • PD-1 (Programmed cell death 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • LAG3 (Lymphocyte Activating 3) • CTLA4 (Cytotoxic T-Lymphocyte Associated Protein 4) • PTPN2 (Protein Tyrosine Phosphatase Non-Receptor Type 2) • DDX3X (DEAD-Box Helicase 3 X-Linked)
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TET2 mutation • PTPN2 mutation
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Rituxan (rituximab) • doxorubicin hydrochloride • cyclophosphamide • Xpovio (selinexor) • vincristine • prednisone
4ms
Phase classification
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DNMT3A (DNA methyltransferase 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • IL6 (Interleukin 6) • IL18 (Interleukin 18)
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DNMT3A mutation • TET2 mutation
4ms
Mesothelioma in situ of the peritoneum: report of three cases and review of the literature. (PubMed, Histopathology)
This work describes the histologic features and clinicopathologic characteristics of peritoneal MIS in three cases, highlights BAP1 somatic and germline mutations in peritoneal MIS, and strengthens the importance of ancillary studies (including immunohistochemical and molecular studies) in the diagnosis of MIS.
Review • Journal • BRCA Biomarker
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BRCA1 (Breast cancer 1, early onset) • MTAP (Methylthioadenosine Phosphorylase) • BAP1 (BRCA1 Associated Protein 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • BRCA (Breast cancer early onset) • SMO (Smoothened Frizzled Class Receptor) • U2AF1 (U2 Small Nuclear RNA Auxiliary Factor 1) • ERCC3 (ERCC Excision Repair 3, TFIIH Core Complex Helicase Subunit)
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TET2 mutation • BAP1 mutation • U2AF1 mutation • SMO mutation
4ms
Efficacy and Survival of Venetoclax Based Regimen in the Treatment of Acute Myeloid Leukemia (PubMed, Zhongguo Shi Yan Xue Ye Xue Za Zhi)
VEN-based regimen can achieve a high response rate, especially in unfit AML with acceptable safety, and some patients can achieve MRD negative. It is also effective in NPM1-, IDH1/2-positive patients with long survival time.
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TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • TET2 (Tet Methylcytosine Dioxygenase 2)
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TP53 mutation • NPM1 mutation • RUNX1 mutation • TET2 mutation
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Venclexta (venetoclax)
4ms
Atypical CML: diagnosis and treatment. (PubMed, Hematology Am Soc Hematol Educ Program)
Unfortunately, until now, no consensus on risk stratification and treatment has been developed: Mayo Clinic prognostic score identified as adverse events age >67 years, hemoglobin level <10  g/dL, and TET2 mutations. Although some possible genetic markers have been identified, allogeneic transplant remains the only curative strategy.
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KRAS (KRAS proto-oncogene GTPase) • NRAS (Neuroblastoma RAS viral oncogene homolog) • JAK2 (Janus kinase 2) • ASXL1 (ASXL Transcriptional Regulator 1) • TET2 (Tet Methylcytosine Dioxygenase 2) • SRSF2 (Serine and arginine rich splicing factor 2) • CSF3R (Colony Stimulating Factor 3 Receptor) • SETBP1 (SET Binding Protein 1) • ETNK1 (Ethanolamine Kinase 1)
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TET2 mutation