RUNX1-RUNX1T1 fusion

All patients remained disease-free, with no events of measurable residual disease (MRD) positivity by flow cytometry or molecular analysis documented. These findings preliminarily confirm that venetoclax, cytarabine, and homoharringtonine-based cytoreductive therapy is a safe and effective bridging therapy for allo-HSCT in patients with refractory/relapsed AML and RUNX1::RUNX1T1 fusion gene.

In RUNX1::RUNX1T1 patients, older age, elevated initial white blood cell count, lower hemoglobin, lower initial fusion transcript load, and the presence of FLT3-ITD or KIT D816/D822 mutations were associated with an increased likelihood of PC2 nonresponse. Based on these variables, we developed a weighted scoring system with good discrimination to identify RUNX1::RUNX1T1 patients at high risk of PC2 nonresponse.

It suggests that avapritinib may bridge therapeutic gaps for atypical KIT-mutant systemic mastocytosis with associated hematologic neoplasm (SM-AHN) that is ineligible for Allo-HSCT or relapsed. Prospective trials are warranted to validate its efficacy, optimize dosing, and explore synergies with Allo-HSCT, offering new strategies for these high-risk patients.

Reverse transcriptase polymerase chain reaction (RT-PCR) also failed to identify the formation of the RUNX1::RUNX1T1 fusion gene. Reassessment of chromosome analysis in light of the FISH and RT-PCR data yielded a t(8;21) (q23;q22) translocation.

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.