RUNX1-RUNX1T1 fusion

Better responses were observed in patients treated with the venetoclax in combination with hypomethylating agent (VEN + HMA) regimen compared to those receiving the '3 + 7' regimens (composite complete remission [CRc], 53.8% vs. 30.2%; p = 0.018)...In conclusion, molecular factors matter in influencing the prognosis of TP53-mutant AML patients. Among them, TP53 mutation sites merit particular attention.

PLAG1 is a rare translocation partner of RUNX1 in AML, mistaken for classical t(8;21) on conventional karyotyping. The rare reported cases of PLAG1::RUNX1 suggest a distinctly poor prognosis, highlighting the importance of accurate diagnosis and the role of OGM in our practice.

An 87-year-old Japanese man was diagnosed with PV 22 years earlier and had been treated with hydroxyurea and aspirin. Leukemic evolution from MPNs often involves morphological changes in addition to genetic and chromosomal abnormalities. Therefore, during the follow-up of MPN, it is important to focus on changes in the blood cell morphology.

Patients harboring the CBFβ::MYH11 fusion gene showed significantly higher response rates to Ven-HMA induction than those with the RUNX1:: RUNX1T1 fusion gene (P<0.01) . Ven-HMA represents a novel therapeutic strategy that exhibits significant efficacy in inv (16) -positive patients; however, it demonstrates relatively lower remission rates in t (8; 21) -positive patients.

Conversely, by setting the threshold at 0.88, specificities of 92.31% and 92.68% were achieved, along with accuracies of 88.89% and 90.63%. Regardless of the threshold, this AI model effectively distinguished RUNX1::RUNX1T1 genetic alterations based on cell morphology.

They were also independent predictors of CIR (HR = 2.46 &lsqb;1.11-5.47], p = 0.03), RFS (HR = 5.1, &lsqb;2.5-10.5], p < 0.001) and OS (HR = 12.9, &lsqb;4.3-38.7], p < 0.001). KDM6A mutations are significantly associated with increased relapse risk and poor prognosis in AML, especially in patients with RUNX1::RUNX1T1 fusion, and may serve as a valuable prognostic biomarker.

After lymphodepletion with fludarabine and cyclophosphamide (FC), 5-20 × 106 cells per kilogram of CAR-T cells were administered. The 12-month cumulative incidence of relapse was 53.3%. These findings indicated that CD19 CAR-T was a safe and effective option for relapsed CD19-positive t(8;21) AML.

These findings suggest that AML cases with RUNX1 lesions including mutations, copy number gains, and translocations other than RUNX1T1 fusion, also commonly express B-cell markers, imparting a "mixed-lineage-like" immunophenotype in cases of AML that otherwise fulfill the criteria for other defined subtypes. We present these cases as to caution regarding this potential diagnostic pitfall and favor a diagnosis of AML with RUNX1 lesion(s) in the setting of a case of AML with myeloid/B-cell antigen expression, a history of myelodysplasia or cytotoxic therapy, the demonstration of pDC differentiation by flow cytometry (generally associated with the presence of a RUNX1 mutation), and the presence of a RUNX1 lesion (mutation, copy number gain, and/or translocation exclusive of a rearrangement with RUNX1T1).

DNM2 mutations were associated with better overall survival (P = 0.028), event-free survival (P = 0.0093) and trends towards better relapse-free survival (P = 0.08), which seems potentially attribute to its coexisting with CEBPA mutation and RUNX1::RUNX1T1 fusion gene. Our study demonstrated the clinical characteristics and the role of DNM2 mutations in AML, which might facilitate understanding the pathogenesis of AML.

The patient achieved complete remission (CR) following an idarubicin (12 mg/m2, days 1-3) + cytarabine (100 mg/m2, d1-7) regimen chemotherapy. Due to economic constraints, the patient and their family declined high-dose cytarabine-based combination chemotherapy and hematopoietic stem cell transplantation, opting instead for intermittent use of standard doses of anthracycline combined with cytarabine maintenance therapy. The disease relapsed after 10 months, the patient discontinued treatment and died shortly after.

Patients aged 18-59 years eligible for intensive chemotherapy were randomized 1:1 to receive VEN-DEC or IA-12 (idarubicin and cytarabine). In conclusion, VEN-DEC demonstrated non-inferior response rates with superior safety over IA-12 in young AML patients. The trial was registered at ClinicalTrials.gov as #NCT05177731.