Methodology and clinical utility of longitudinal UBA1 tracking in VEXAS syndrome.

IF 5.1 2区医学 Q1 HEMATOLOGY

British Journal of Haematology Pub Date : 2024-11-13 DOI:10.1111/bjh.19897

Carmelo Gurnari, Elisa Galossi, Eleonora Lumia, Alfonso Piciocchi, Mariadomenica Divona, Elisa Casciani, Francesca Romano, Elisa Diral, Alessandro Tomelleri, Federico Caroni, Antonio Vitale, Gregorio Maria Bergonzi, Annalisa Condorelli, Giorgia Battipaglia, Erika Morsia, Elena Crisà, Paola Triggianese, Arianna Savi, Chiara Cardamone, Matteo Dragani, Giulia Rivoli, Federica Pilo, Davide Firinu, Sara Plebani, Francesco D'Agostino, Alessandro D'Ambrosio, Katja Sockel, Cristina Papayannidis, Silvia Salmoiraghi, Fabrizio Pane, Monica Bocchia, Luca Cantarini, Marco Frigeni, Corrado Campochiaro, Lorenzo Dagna, Raffaella Greco, Fabio Ciceri, Orietta Spinelli, Christian Thiede, Maria Teresa Voso

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引用次数: 0

Abstract

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. Here, we validated a method to quantify UBA1 clonal burden and explored its applicability in patients with VEXAS. Given the different treatment interactions, droplet digital polymerase chain reaction (ddPCR) may allow for informed therapeutic decisions and implementation of personalized strategies.

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纵向 UBA1 追踪 VEXAS 综合征的方法和临床实用性。

空泡、E1 酶、X-连锁、自身炎症性、体细胞性（VEXAS）是一种由 X 连锁 UBA1 基因的体细胞突变（通常是 Met41 热区的 Val/Thr/Leu 替换）引起的血液炎症综合征。临床表现多种多样，对大多数血液风湿病治疗都有难治性。迄今为止，还没有关于 VEXAS 的治疗指南，而关于治疗后纵向 UBA1 克隆负荷评估的方法和临床意义的证据也很少。在此，我们验证了一种量化UBA1克隆负担的方法，并探讨了其在VEXAS患者中的适用性。考虑到不同治疗方法之间的相互作用，液滴数字聚合酶链反应（ddPCR）可能有助于做出明智的治疗决策和实施个性化策略。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

British Journal of Haematology 医学-血液学

CiteScore

8.60

自引率

4.60%

发文量

565

审稿时长

1 months

期刊介绍： The British Journal of Haematology publishes original research papers in clinical, laboratory and experimental haematology. The Journal also features annotations, reviews, short reports, images in haematology and Letters to the Editor.