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免疫疗法对VEXAS综合征患者是否安全有效?

Is immunotherapy safe and effective in patients with VEXAS syndrome?

作者信息

Marvisi Chiara, Muratore Francesco, Cusenza Vincenza Ylenia, Nicoli Davide, Farnetti Enrico, Bonanno Orsola, Spaggiari Lucia, Banzi Maria, Longo Caterina, Salvarani Carlo

机构信息

Azienda USL - IRCCS di Reggio Emilia, Reggio Emilia, Italy.

Università di Modena e Reggio Emilia, Modena, Italy.

出版信息

J Immunother Cancer. 2025 Jul 31;13(7):e012410. doi: 10.1136/jitc-2025-012410.

DOI:10.1136/jitc-2025-012410
PMID:40744666
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12314956/
Abstract

The use of immune checkpoint inhibitors in VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is unknown. Concerns are particularly about their safety, due to their potential capacity to exacerbate inflammatory symptoms. Further, there is a lack of data about their role in controlling the UBA1 clones. In this clinical case, we report a successful use of cemiplimab in a patient with VEXAS syndrome and a concomitant diagnosis of metastatic squamous cell carcinoma.

摘要

免疫检查点抑制剂在VEXAS(空泡、E1酶、X连锁、自身炎症性、体细胞)综合征中的应用尚不清楚。由于其可能加剧炎症症状,人们尤其担心其安全性。此外,关于它们在控制UBA1克隆中的作用缺乏数据。在本临床病例中,我们报告了西妥昔单抗在一名患有VEXAS综合征并伴有转移性鳞状细胞癌诊断的患者中的成功应用。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1071/12314956/3b08e7da5526/jitc-13-7-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1071/12314956/3b08e7da5526/jitc-13-7-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1071/12314956/3b08e7da5526/jitc-13-7-g001.jpg

相似文献

1
Is immunotherapy safe and effective in patients with VEXAS syndrome?免疫疗法对VEXAS综合征患者是否安全有效?
J Immunother Cancer. 2025 Jul 31;13(7):e012410. doi: 10.1136/jitc-2025-012410.
2
Cemiplimab in the treatment of metastatic basal cell carcinoma.西米普利单抗治疗转移性基底细胞癌。
Future Oncol. 2025 Jul;21(16):1999-2005. doi: 10.1080/14796694.2025.2511568. Epub 2025 May 27.
3
Treatment outcomes in patients with VEXAS syndrome: a retrospective cohort study.VEXAS综合征患者的治疗结果:一项回顾性队列研究。
Lancet Rheumatol. 2025 May 21. doi: 10.1016/S2665-9913(25)00034-7.
4
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report.X 连锁空泡化酶体相关自身炎症性疾病(VEXAS)综合征以接受腹膜透析患者反复发生无菌性腹膜炎为表现:病例报告。
BMC Nephrol. 2024 Jan 11;25(1):18. doi: 10.1186/s12882-024-03454-9.
5
VEXAS syndrome-associated tumefactive demyelination.VEXAS综合征相关的肿胀性脱髓鞘病变
J Neurol. 2025 Jul 12;272(8):506. doi: 10.1007/s00415-025-13239-1.
6
Bone Marrow Vacuolization at the Crossroads of Specialties: Molecular Insights and Diagnostic Challenges.专业交叉领域的骨髓空泡化:分子见解与诊断挑战
Eur J Haematol. 2025 Sep;115(3):204-217. doi: 10.1111/ejh.14441. Epub 2025 May 29.
7
Clinical characteristics, disease trajectories and management of vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: a systematic review.空泡、E1 酶、X 连锁、自身炎症、体细胞(VEXAS)综合征的临床特征、疾病轨迹和治疗:系统评价。
Rheumatol Int. 2024 Jul;44(7):1219-1232. doi: 10.1007/s00296-023-05513-0. Epub 2023 Dec 21.
8
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome: A comprehensive review of cases across different ethnicities.空泡、E1酶、X连锁、自身炎症性、体细胞(VEXAS)综合征:不同种族病例的综合综述
Eur J Intern Med. 2025 Aug;138:112-120. doi: 10.1016/j.ejim.2025.05.023. Epub 2025 May 28.
9
Vexas Syndrome in a Moroccan Patient: The Story of a Two-Year Diagnostic Lag.一名摩洛哥患者的Vexas综合征:两年诊断延迟的故事。
Eur J Case Rep Intern Med. 2025 Jun 13;12(7):005419. doi: 10.12890/2025_005419. eCollection 2025.
10
Characterization of E1 enzyme dependencies in mutant-UBA1 human cells reveals UBA6 as a novel therapeutic target in VEXAS syndrome.突变型UBA1人类细胞中E1酶依赖性的特征揭示UBA6是VEXAS综合征的一个新治疗靶点。
Leukemia. 2025 Jun 30. doi: 10.1038/s41375-025-02671-x.

本文引用的文献

1
Mechanisms of hematopoietic clonal dominance in VEXAS syndrome.VEXAS综合征中造血克隆优势的机制。
Nat Med. 2025 Apr 7. doi: 10.1038/s41591-025-03623-9.
2
Hypomethylating agents for patients with VEXAS without myelodysplastic syndrome: Clinical outcome and longitudinal follow-up of vacuolization and UBA1 clonal dynamics.用于无骨髓增生异常综合征的VEXAS患者的低甲基化药物:空泡化和UBA1克隆动力学的临床结局及长期随访
Br J Haematol. 2025 Feb;206(2):565-575. doi: 10.1111/bjh.19953. Epub 2025 Jan 13.
3
T-cell dysfunctions in myelodysplastic syndromes.
骨髓增生异常综合征中的 T 细胞功能障碍。
Blood. 2024 Apr 4;143(14):1329-1343. doi: 10.1182/blood.2023023166.
4
VEXAS syndrome: complete molecular remission after hypomethylating therapy.VEXAS 综合征:去甲基化治疗后的完全分子缓解。
Ann Hematol. 2024 Mar;103(3):993-997. doi: 10.1007/s00277-023-05611-w. Epub 2024 Jan 12.
5
Early activation of inflammatory pathways in UBA1-mutated hematopoietic stem and progenitor cells in VEXAS.UBA1 突变的造血干细胞和祖细胞中 VEXAS 炎症途径的早期激活。
Cell Rep Med. 2023 Aug 15;4(8):101160. doi: 10.1016/j.xcrm.2023.101160.
6
Spectrum of clonal hematopoiesis in VEXAS syndrome.VEXAS 综合征中的克隆性造血谱。
Blood. 2023 Jul 20;142(3):244-259. doi: 10.1182/blood.2022018774.
7
Somatic Mutations in and Severe Adult-Onset Autoinflammatory Disease.和严重成人发病的自身炎症性疾病中的体细胞突变。
N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27.