TET2 mutation

P2, N=80, Recruiting, Mayo Clinic | Trial completion date: Nov 2033 --> Mar 2027 | Trial primary completion date: Feb 2031 --> Mar 2027

Finally, we highlight the impact of TET2 mutations on age-related inflammatory diseases, including cardiovascular and neurodegenerative disorders. Collectively, available evidence positions TET2 as a key integrator of epigenetic state and immune signaling, with context-dependent effects on inflammation and tissue homeostasis, and underscores the therapeutic potential of targeting TET2-dependent pathways in clonal hematopoiesis and inflammatory diseases.

Most somatic TP53 mutations in LFS that could be assessed for phase arose on the chromosomal copy lacking the p.R181H variant. Our study reveals how the germline p.R181H variant reshapes baseline somatic mutation and selection in normal tissues and highlights the importance of understanding early somatic evolution in LFS prior to cancer development and treatment.

TET2 and TP53 mutations co-operate leading to advanced hematologic malignancy. TET2 mutations promote an inflammatory environment and TP53 mutation supports tolerance to this inflammatory stress.

Multivariate analysis identified RNC (OR:0.590;P = 0.048) as the sole independent influencing factor (P < 0.05). RNC is an independent influencing factor for the development of T-LGLL-PRCA.

Additional analyses of public transcriptomic datasets further supported these observations.ConclusionOur study reveals that a low IL-2/IL-10 ratio is significantly associated with adverse prognosis in HCC patients and may serve as a practical and biologically relevant biomarker for predicting the efficacy of anti-PD-1 therapy. Moreover, systematic evaluation of immune status could provide important guidance for predicting immunotherapy efficacy and supporting future clinical decision-making in HCC management.

P2, N=80, Recruiting, Mayo Clinic | Trial completion date: Mar 2026 --> Nov 2033 | Trial primary completion date: Dec 2025 --> Feb 2031

We developed a weighted genomic model and diagnostic workflow showing that combining genomic signatures with bone marrow monocyte frequencies in OM-CMML more accurately predicts progression to overt CMML. These findings support integrating genomic determinants, and our clinic-ready diagnostic workflow, into the CMML diagnostic framework to improve accuracy.

According to previous reports, lymphomatous effusion, which is frequently measured in months, is associated with a short survival. Based on these data and current World Health Organization (WHO) and National Comprehensive Cancer Network (NCCN) guidance, we propose a practical fluid-based diagnostic algorithm that integrates cytology, ancillary tools, and lymph node biopsy when feasible, and we highlight the need for standardized effusion-based workflows, multicenter registries, and the integration of liquid biopsies, multiomics, and artificial intelligence-assisted cytology to refine risk stratification and guide therapy in this distinct subgroup.

These results suggest an association of PRDM16 overexpression with the NPM1/FLT3-ITD/DNMT3A triple-mutant AML genotype, typically linked to high leukemia stem cell frequencies and poor prognosis. Importantly, within this adverse AML subtype low PRDM16 expression is an independent prognostic marker for favorable outcome, supporting an anti-leukemic mechanism in AMLs with repressed PRDM16 transcription.

Given the patient's age and tumor location, we administered a reduced dose of DeVIC, followed by radiotherapy, achieving partial remission. This case expands the spectrum of EBV-associated T-cell lymphomas and highlights the need for additional cases to refine the classification and management.

Current research has revealed that ASXL1 mutations in MDS predict demethylating agents (HMAs) resistance, the combination of HMAs and Venetoclax (VEN) achieved an ORR of 87%. DNMT3A R882 mutations induce decitabine sensitivity via hemi-methylated enhancer trapping, and TET2 mutations enhance HMAs efficacy only in ASXL1 wild-type contexts (ORR 62.1% vs. co-mutated 19%). RUNX1 aberrations reduce chemotherapy responses (18.9% ORR in high-risk MDS) through DNA repair impairment, while BCOR/EZH2 loss drives cytarabine resistance. TP53 multi-hit lesions correlate with poor survival (OS <12 months) but respond to eprenetapopt-azacitidine (ORR 73%), and IDH1/2 inhibitors achieve durable remissions (ivosidenib ORR 83.3%, mOS 35.7 months). In this paper, we systematically illustrate the correlation between key gene mutations and the response to HMAs, chemotherapy and targeted therapies in MDS patients. This article summarizes the current evidence on gene mutations as predictive biomarkers and discusses the direction of individualized therapy.