Furthermore, the HMR profile was also associated with a higher risk of progression to acute leukemia, while it did not influence the probability of CHR or progression to MF. In conclusion, CALR VAF and HMR profile appear to be more important than CALR mutation type regarding treatment response and major clinical outcomes in ET.
Additionally, we explore the mechanisms underlying TP53 mutations in the leukemic transformation of MPNs, including clonal evolution to multihit status and the role of inflammation and therapy. Finally, recent findings on the clinical impact of multihit TP53 mutations and potential strategies for targeting the p53 pathway in MPNs and sAML are presented.
Romiplostim-induced MF in a mouse model demonstrated extensive bone marrow (BM) CHI3L1 mRNA expression, which was reversed by clodronate treatment. A culture assay revealed that high CHI3L1 concentrations promoted extracellular matrix production by fibroblast cell lines, and that a CHI3L1-neutralizing antibody abrogated this effect. These results indicate the importance of CHI3L1 in the association between fibrocytes and fibroblasts in MF and could be a focus for future treatment.
Haematological adverse effects of ART are well recognized, most commonly anemia, particularly with zidovudine-containing regimens. Although the patients were clinically stable, persistent polycythaemia may increase long term thrombotic risk and therefore may warrant periodic complete blood count monitoring. ConclusionThis case series highlights the need for awareness of this uncommon but potentially significant haematological observation in patients receiving dolutegravir-based ART and underscores the importance of systematic evaluation to exclude alternative aetiologies.
Survival differences were independent of WHO diagnostic labels, with molecular architecture alone consistently predicting outcomes across all clusters In this Indian MPN cohort, molecular architecture, not WHO label, dictated prognosis. The reproducible impact of high-risk co-mutations demonstrates both the feasibility and need for a genomics-first, tiered classification to guide risk stratification and therapy.
This case represents, to our knowledge, one of the very few-if not the first-reported instances of successful HSCT for JMML in a patient with TAR syndrome. It underscores the importance of vigilant surveillance in TAR patients for potential malignant transformation and demonstrates the curative potential of HSCT in rare congenital-hematologic overlap syndromes.
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NF1 (Neurofibromin 1) • RBM8A (RNA Binding Motif Protein 8A)
NLR half reduction significantly predicted hematologic response (week 24 OR 6.42, p = 0.001) and molecular response consistently across all time points (week 24 OR 27.94, p < 0.001). NLR half reduction is a simple, cost-effective biomarker that may reflect molecular response and treatment efficacy in PV.
Treatment with hydroxycarbamide and ruxolitinib resulted in decreased platelet counts and improved vasculitis, with no subsequent recurrence of cardiovascular events. This rare case shows that ruxolitinib can be effective in treating vasculitis complications in patients with JAK2 mutation-positive ET.
These findings highlight the need for enhanced understanding of MDS pathogenesis across patient groups and refined prognostic tools to improve personalized management of MDS spectrum conditions. Trial Registration: ClinicalTrials.gov identifier: NCT02775383.