Abstract：
BACKGROUND: Idiopathic Multicentric Castleman Disease (iMCD) is a complex and poorly understood pathophysiological entity, which encompasses a variety of conditions and can mimic or be associated with autoimmune/autoinflammatory diseases, making it challenging to diagnose and treat. Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is an adult-onset autoinflammatory disorder associated with hematological abnormalities and caused by acquired somatic mutations in the ubiquitin-like modifier activating enzyme 1 gene (UBA1) which shares several common clinical and biological signs with iMCD. In this article, we report a patient with VEXAS syndrome initially presenting as iMCD, questioning the link between these two entities.
METHODS: We report here a patient initially presenting as iMCD, proved on lymph node histology, which turns out to have a mutation at the splice acceptor site of exon 3 of UBA1 exhibiting VEXAS syndrome with Castleman-like lymph node.
CONCLUSIONS: This is only the second case of VEXAS syndrome presenting as iMCD. VEXAS syndrome should therefore be considered in the presence of iMCD suspicion, including in cases of compatible histology.
METHODS: We report here a patient initially presenting as iMCD, proved on lymph node histology, which turns out to have a mutation at the splice acceptor site of exon 3 of UBA1 exhibiting VEXAS syndrome with Castleman-like lymph node.
CONCLUSIONS: This is only the second case of VEXAS syndrome presenting as iMCD. VEXAS syndrome should therefore be considered in the presence of iMCD suspicion, including in cases of compatible histology.
摘要：
背景：特发性多中心castleman病（iMCD）是一种复杂且鲜为人知的病理生理实体，包括各种疾病，可以模拟自身免疫/自身炎性疾病或与之相关，使得诊断和治疗具有挑战性。液泡,酶E1，X连接，自身炎症,体细胞（VEXAS）综合征是一种与血液学异常相关的成人发作的自身炎症性疾病，由泛素样修饰物激活酶1基因（UBA1）的获得性体细胞突变引起，该突变与iMCD具有几种常见的临床和生物学体征。在这篇文章中,我们报告了一名最初表现为iMCD的VEXAS综合征患者，质疑这两个实体之间的联系。
方法：我们在此报告一名最初表现为iMCD的患者，在淋巴结组织学上证实，UBA1外显子3的剪接受体位点发生突变，表现出VEXAS综合征伴Castleman样淋巴结。
结论：这只是以iMCD表现的第二例VEXAS综合征。因此，在存在iMCD怀疑的情况下，应考虑VEXAS综合征，包括组织学兼容的病例。
方法：我们在此报告一名最初表现为iMCD的患者，在淋巴结组织学上证实，UBA1外显子3的剪接受体位点发生突变，表现出VEXAS综合征伴Castleman样淋巴结。
结论：这只是以iMCD表现的第二例VEXAS综合征。因此，在存在iMCD怀疑的情况下，应考虑VEXAS综合征，包括组织学兼容的病例。
