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📄New study shows: - OS in AML with KMT2Ar is consistent for distinct fusion partners - age >60, sAML, DNMT3A/KRASmut are prognostic factors in intensively treated pts - KRAS & TP53mut impact remission rates & OS for de novo AML pts aged <60 years pubmed.ncbi.nlm.nih.gov/38965370/

📄Application of a Perturb-seq method (SEUSS), to generate mutations at protein interfaces of #RUNX1 and quantify their effect on activities of downstream cellular programs. scRNA-seq-based assay informs reclassification of VUS Cell Reports doi.org/10.1016/j.celr…

📄 Case report of a #CML patient with an atypical e19a2 BCR::ABL1 transcript and T315I mutation in whom treatment with #asciminib resulted in stable complete molecular remission with five log PCR sensitivity nature.com/articles/s4137…

🚨 Exciting News! 📷 Our PhD student Priyansh Srivastava published a new tool for the analysis of gene expression dynamics & cellular differentiation! Read more: doi.org/10.1093/bioinf…… 📷📷 #GeneExpression #PhDAchievements

📄 Systematic analysis of i(7)(p10) in hematological malignancies incl. characterization of additional cytogenetic alterations, co-mutations, and examination of the potential clinical implications associated with i(7)(p10) doi.org/10.1182/blooda…

📄CLSI's H62 guideline has revolutionized #FlowCytometry by offering vital assay development & validation guidance. This manuscript delves into analyzing rare matrices, outlining best practices and considerations for clinical and research use doi.org/10.1002/cyto.b…

📄Cohesin mutations in #MDS/#AML show distinct clinical outcomes. Analysis of 790 patients revealed #STAG2 mutations link to adverse prognosis and secondary AML, while RAD21, SMC1A, SMC3 mutations align with better outcomes in de novo AML. doi.org/10.1038/s41375…

📄Analysis of TP53 abnormalities in 682 MDS-del(5q) pts: - TP53 monoallelic mut + VAF <20% = behavior similar to TP53wt - TP53 monoallelic mut + VAF ≥20% = TP53 multihit pts TP53multi was predictive for 📈risk of leukemic transformation doi.org/10.1182/blood.…

After watching a couple 🤯lectures by Oscar Brück & Dr. Haferlach (Munich Leukemia Laboratory) as part of MDS Foundation I'm overcome with excitement re: the future [and present - if you're the MLL!] of AI-based diagnostics in #hemepath #leusm #mdssm youtube.com/watch?v=_OoiQk…

Study resolves long-standing debate: Clonal hematopoiesis-related mutations confer increased atherosclerosis risk, yet neither the presence nor the extent of atherosclerosis affects mutant cell expansion ➡️CH unidirectionally promotes atherosclerosis nature.com/articles/s4159…

I'm excited to share our preprint "Pyjacker identifies enhancer hijacking events in acute myeloid leukemia including MNX1 activation via deletion 7q": doi.org/10.1101/2024.0…. This is my main PhD work and a massive collaborative effort. 🧵👇

📄Identification of a new germline mutation: JAK2 F556V, a gain-of-function mutation 📈JAK-STAT5 signaling. This study reveals its role in familial thrombocythemia, highlighting the hereditary aspect of JAK2 mutations & their impact on platelet counts. doi.org/10.3324/haemat…

📄This research perspective thoroughly examines the impact of #UBA1 loss of function & recent advancements in #VEXAS research, focusing on inflammation, cytopenias, clonality, and oncogenic potential; highlighting in particular M41 versus non-M41 mutations oncotarget.com/article/28646/…

📄Data-driven classification system for people with #MDS to harmonize entity lables between #WHO2022 and #ICC2022. A simple hierarchical algorithm was created to assign an individual to a specific disease category in clinical practice. The Lancet thelancet.com/journals/lanha…

📄Review focusing on the latest #diagnostic standards and assays for #BALL, the importance of new technologies & biomarkers in enhancing diagnostic accuracy, the potential impact of innovative advancements and future directions. shorturl.at/59ZpY #LeukemiaDiagnostics

📄 Can molecular patterns help to classify overlapping entities in #MyeloidNeoplasms? - Genetic markers are already crucial for #DiseaseClassification + patient management & will be pivotal for future classifications of myeloid neoplasm #CancerGenomics onlinelibrary.wiley.com/doi/full/10.11…