Publications by authors named "A Savi"

Purpose: Personalized treatment schemes are being systematically applied to ensure best treatment outcome in oncologic patients. This is true also for personalized dosimetry in transarterial radioembolization (TARE) in hepatocellular carcinoma (HCC) patients. Precise and detailed volumetric and functional data derived from radiological and nuclear imaging methods are essential for personalized dosimetry.

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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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Article Synopsis
  • * The most common mutation is p.D816V, but there are other less frequent mutations that are typically undetectable with standard testing methods.
  • * New, more sensitive detection methods are being developed, and the review discusses how to approach these tests for diagnosing and monitoring mastocytosis patients.
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Acute myeloid leukemia (AML) with inv(16) is typically associated with a favourable prognosis. However, up to 40 % of patients will eventually experience disease relapse. Herein, we dissected the genomic and transcriptomic profile of inv(16) AML to identify potential prognostic markers and therapeutic vulnerabilities.

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