SF3B1 mutation

After ruxolitinib therapy, he later developed leukocytosis and 2% circulating blasts. Repeat marrow demonstrated ≥ 15% ring sideroblasts. Retrospectively, the initial biopsy fulfills ICC 2022 criteria for MDS/MPN-SF3B1-T, highlighting the diagnostic value of genetics-integrated classification in fibrotic marrows.

Median OS was 27.2 vs. 17.2 months in AML and 16.7 vs. 23.7 months in MDS/CMML for clearance versus persistence groups, respectively. These findings suggest that SF mutation clearance does not significantly impact OS but may influence other clinical outcomes in patients with myeloid neoplasms harboring SF mutations.

These structural changes are associated with increased ensemble diversity. Our results demonstrate that although there are key structured regions within an RNA, there is also extensive variability where divergent RNA structures allow for accurate splicing.

This dataset is a valuable community resource, enabling detection of new transcripts in short read data sets. An interactive portal to explore splicing patterns in these data is available at https://leylab.org/isoforms/ .

Patients with wild-type SF3B1 have a significantly shorter OS compared to those with SF3B1 mutations, and they also have a higher risk of transformation to AML, which may be associated with TP53 mutations.

Hemophagocytic lymphohistiocytosis (HLH) is a rare occurrence that can present further management challenges. Here, we describe a young adult with GATA2 deficiency presenting with Legionella pneumonia, COVID-19, and HLH with underlying SF3B1-mutated myelodysplasia that responded successfully to allogeneic hematopoietic stem cell transplantation.

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Collectively, our results support that U2AF1S34F and U2AF1Q157R mutations induce distinct hematopoietic, gene expression, and RNA splicing phenotypes in vivo. Larger population studies will be needed to determine if these phenotypic changes translate into clinico-pathologic differences in patients, warranting separate classification.

P2, N=6, Active, not recruiting, H. Lee Moffitt Cancer Center and Research Institute | Recruiting --> Active, not recruiting | N=70 --> 6

Our mutation-agnostic multiplex drop-off ddPCR assays provide a sensitive, specific, and cost-effective alternative to targeted NGS and simplex ddPCR for ctDNA monitoring in UM. By minimizing reliance on prior knowledge of tumor genotype with NGS, these assays enable broader clinical applicability for real-time treatment monitoring in UM.

Distinct mutational patterns and clonal progression mechanisms were observed for different SF3B1 mutation types and depending on the affected hematopoietic lineage. Our findings suggest that the SF3B1 VAF across different lineages may refine patient stratification beyond mutation type alone.

XPO1 hyperactivation rewires nucleocytoplasmic transport and sustains leukaemogenic programs in genetically defined acute myeloid leukaemia (AML) subsets. Selective XPO1 inhibitors (selinexor, eltanexor) show preferential activity in NPM1-mutated, DEK::NUP214-positive and SF3B1-mutated myeloid neoplasms. Combination strategies with hypomethylating agents, BCL-2 inhibitors and other targeted therapies enhance depth and durability of responses but are limited by toxicity. Future clinical trials should focus on molecularly selected populations, biomarker-guided dosing and translational endpoints such as measurable residual disease (MRD) and clonal dynamics.