Successful azacitidine therapy for myelodysplastic syndrome associated with VEXAS syndrome.
Azacitidine
DNMT3A mutation
Myelodysplastic syndrome
UBA1 mutation
VEXAS syndrome
Journal
International journal of hematology
ISSN: 1865-3774
Titre abrégé: Int J Hematol
Pays: Japan
ID NLM: 9111627
Informations de publication
Date de publication:
Jun 2023
Jun 2023
Historique:
received:
17
09
2022
accepted:
04
01
2023
revised:
28
12
2022
medline:
30
5
2023
pubmed:
15
1
2023
entrez:
14
1
2023
Statut:
ppublish
Résumé
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is caused by UBA1 somatic mutations and is characterized by late-onset systemic autoimmune inflammation and blood abnormalities such as cytopenia, vacuolation of myeloid/erythroblastic cells, and myelodysplastic syndrome (MDS). It is often resistant to immunosuppressive therapy, and no treatment strategy has been established. A 65-year-old man presented with palpable erythema, fever, macrocytic anemia, and arthralgia. He was subsequently diagnosed with MDS complicated by Sweet's disease. Treatment with azacitidine was initiated due to suspected skin invasion by MDS cells and resistance of the skin rash to steroid therapy. Next-generation sequencing of bone marrow samples prior to treatment initiation revealed the presence of UBA1 p.M41L (VAF 0.38) and DNMT3A p.L605fs mutations (VAF 0.184). Based on the findings of systemic inflammation, a diagnosis of VEXAS syndrome was made. The fever and skin rash improved with azacitidine therapy. In conclusion, somatic mutations in UBA1 should be explored in patients with MDS exhibiting systemic autoimmune inflammation. Furthermore, azacitidine may be a good treatment option for systemic autoinflammation in MDS associated with VEXAS syndrome.
Identifiants
pubmed: 36641501
doi: 10.1007/s12185-023-03532-y
pii: 10.1007/s12185-023-03532-y
doi:
Substances chimiques
Azacitidine
M801H13NRU
Enzyme Inhibitors
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
919-924Informations de copyright
© 2023. Japanese Society of Hematology.
Références
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