RUNX1 (RUNX Family Transcription Factor 1)

Here, we first demonstrate that ITGB1 upregulated by RUNX1 in primary PDAC cells is enriched in tumor-derived EVs and contributes to fibrotic PMN formation, thereby accelerating PDAC-LM. These pivotal findings not only unravel the intricate molecular circuitry governing PDAC-LM but also pinpoint promising biomarkers to facilitate the diagnosis and therapy of this lethal metastatic cascade.

Our data show that TP53 isoforms are dysregulated in B-ALL at diagnosis as well as at relapse. Short TP53 isoforms, particularly Δ133p53 is associated with better prognosis suggesting its potential role in refining risk stratification of B-ALL.

Overexpression of CD123 and CD86 in CBFB::MYH11 may have diagnostic and therapeutic relevance. The online version contains supplementary material available at 10.1007/s12288-025-02150-4.

Tyrosine kinase inhibitors (TKI) (midostaurin, avapritinib) have changed the treatment landscape in SM...Cladribine continues to have a role for MC debulking, whereas interferon-α has a diminishing role in the TKI era...Allogeneic stem cell transplant has a role in such patients. Imatinib has a therapeutic role only in the rare patient with an imatinib-sensitive KIT mutation.

Mutations in ASXL1, SRSF2, EZH2 and NRAS were significantly more frequent in RUNX1-mutated patients compared with those without RUNX1 mutations (adjusted p < 0.05). RUNX1-mutated patients exhibited poorer overall survival (median OS 18 months vs. 51 month, p < 0.001), while U2AF1 co-mutations were associated with a relatively better prognosis (median OS 34 months vs. 17 months, p = 0.003), indicating a potential modifying effect of U2AF1 on the outcome of RUNX1-mutated patients.

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.