VEXAS syndrome: complete molecular remission after hypomethylating therapy

被引：12

作者：

Sockel, Katja ^{[1
,2
]}

Goetze, Katharina ^{[2
,3
,4
]}

Ganster, Christina ^{[5
]}

Bill, Marius ^{[1
]}

Georgi, Julia-Annabell ^{[1
]}

Balaian, Ekaterina ^{[1
]}

Aringer, Martin ^{[6
,7
]}

Trautmann-Grill, Karolin ^{[1
]}

Uhlig, Maria ^{[1
]}

Bornhaeuser, Martin ^{[1
,2
,4
,8
]}

Haase, Detlef ^{[5
]}

Thiede, Christian ^{[1
,9
]}

机构：

[1] Tech Univ Dresden, Univ Hosp Dresden, Med Clin & Policlin 1, Dresden, Germany

[2] German Canc Consortium DKTK, CHOICE Consortium, Partner Sites, Munich Dresden, Germany

[3] Tech Univ Munich TUM, Dept Med 3, Klinikum Rechts Isar, Munich, Germany

[4] German Canc Res Ctr, Heidelberg, Germany

[5] Univ Med Ctr Gottingen, Clin Hematol & Med Oncol, Gottingen, Germany

[6] Tech Univ Dresden, Univ Med Ctr, Dept Med 3, Div Rheumatol, Dresden, Germany

[7] Tech Univ Dresden, Fac Med Carl Gustav Carus, Dresden, Germany

[8] Natl Ctr Tumor Dis NCT UCC, Dresden, Germany

[9] Agendix GmbH, Dresden, Germany

来源：

ANNALS OF HEMATOLOGY | 2024年 / 103卷 / 03期

关键词：

VEXAS; Hypomethylating therapy; Azacitidine; Molecular remission; MANIFESTATIONS;

D O I：

10.1007/s00277-023-05611-w

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

The VEXAS syndrome, a genetically defined autoimmune disease, associated with various hematological neoplasms has been attracting growing attention since its initial description in 2020. While various therapeutic strategies have been explored in case studies, the optimal treatment strategy is still under investigation and allogeneic cell transplantation is considered the only curative treatment. Here, we describe 2 patients who achieved complete molecular remission of the underlying UBA1 mutant clone outside the context of allogeneic HCT. Both patients received treatment with the hypomethylating agent azacitidine, and deep molecular remission triggered treatment de-escalation and even cessation with sustained molecular remission in one of them. Prospective studies are necessary to clarify which VEXAS patients will benefit most from hypomethylating therapy and to understand the variability in the response to different treatment strategies.

引用

页码：993 / 997

页数：5

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