RUNX1 (RUNX Family Transcription Factor 1)

Moreover, this work facilitates investigation of FPDMM pathogenesis and supports refinement of RUNX1-specific variant curation guidelines. We further advocate for development of additional functional assays, especially for variants affecting the RUNX1 C-terminus.

Azacitidine was administered after dialysis sessions, while venetoclax dosing was adjusted because of concomitant posaconazole prophylaxis. Approximately one year after diagnosis, relapsed AML was identified on peripheral blood flow cytometry. This case highlights the feasibility of venetoclax-based lower-intensity therapy in selected dialysis-dependent AML patients while underscoring the persistent therapeutic limitations and adverse prognosis associated with relapsed disease in this population.

Therefore, it has been hypothesized that iAMP21-related genes may be associated with Down syndrome susceptibility to ALL. The present review described the biological role of iAMP21-related genes and their relationship with ALL development.

P2, N=6, Active, not recruiting, M.D. Anderson Cancer Center | Recruiting --> Active, not recruiting | Trial primary completion date: Jun 2026 --> Jun 2028

These findings support a model of RUNX1-driven leukemogenesis, in which germline and somatic alterations represent distinct yet interconnected trajectories, while highlighting the importance of distinguishing variant origin for risk stratification, donor selection, and therapeutic decision-making in pediatric myeloid malignancies. Given the small cohort size, the findings remain descriptive and require validation in larger prospective studies.

This study expands the spectrum of RUNX1 fusions and highlights the integral diagnostic value of morphology, flow cytometry, cytogenetics, FISH, and NGS analyses for broad structural variant detection in clinical practice. Furthermore, the truncating mutation in one allele of RUNX1 and RUNX1::ARID1B of the second allele detected with advanced disease suggests the possibility of combined transcriptional and chromatin regulatory alterations in disease recurrence in the patient.

Our findings indicate that although OGM excels at resolving complex structural variants, CMA remains essential for detecting copy-neutral events. Until OGM achieves improved sensitivity for CN-LOH, an integrated approach utilizing conventional cytogenetics, CMA, NGS, and OGM provides the most reliable framework for comprehensive genomic assessment across cancer types.

These immunomodulatory effects synergistically enhanced PD-1/PD-L1 immune checkpoint blockade efficacy, ultimately augmenting therapeutic outcomes in HCC. Therefore, this study establishes CFTR potentiation as a novel immunomodulatory axis, proposing biomarker-driven combination regimens to enhance therapeutic efficacy while mitigating immune-related adverse events, thereby addressing an urgent unmet need in translational hepatology.

P=N/A, N=82, Recruiting, Fujian Medical University Union Hospital | N=180 --> 82

Given the differing cytogenetics among each cell population, the CLL and AML may have developed as separate clonal processes. With a further understanding of the pathogenic mechanism, this may influence the treatment decision-making process.

Further, RT-PCR for hub genes showed elevated expression of RUNX1, MAPK1, ETS1, FOXP1, and CDC42 in RA patients. Overall, our findings reveal a potential miRNA-mediated regulatory axis underlying oxidative and metabolic disturbances in RA, offering new insights into disease mechanisms and laying the groundwork for the development of novel biomarkers and therapeutic targets.