Publications by authors named "M Dragani"
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) is a haemato-inflammatory syndrome genetically defined by somatic mutations in the X-linked UBA1 gene, typically Val/Thr/Leu substitutions at the Met41 hotspot. Clinical manifestations are heterogeneous and refractory to most haemato-rheumatological treatments. To date, no guidelines exist for the management of VEXAS, and scarce is the evidence on methodology and clinical significance of longitudinal UBA1 clonal burden evaluation upon therapy.
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- Acute myeloid leukemia (AML) is a severe blood cancer, with around 30% of cases linked to mutations in the NPM1 gene, leading to a specific classification of NPM1-mutated AML that generally has a favorable prognosis but still faces a high relapse rate of 30-50%.
- This study explored the use of total RNA sequencing (RNAseq) to better characterize NPM1-mutated AML, revealing complex molecular variations and different clonal types that previous methods might have missed, such as abnormal fusion transcripts.
- The findings suggest that advanced technologies like RNAseq could improve risk assessment and treatment planning for patients with NPM1-mutated AML, laying the groundwork for
Article Synopsis
- VEXAS is a unique disease that combines symptoms of rheumatologic and hematologic disorders, and this study aimed to better understand its diagnosis and genetic features while tracking changes over time with different treatments.
- Researchers gathered data from various centers in Italy, finding that 41 male patients had significant mutations in the UBA1 gene, mostly diagnosed around age 67, all presenting with anemia and common rheumatologic issues like polychondritis.
- A high percentage of these patients also had myelodysplastic syndrome (MDS), showcasing diverse genetic mutations, and the study noted that after treatment like hematopoietic cell transplants, some mutations were cleared.