VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder
Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overl...
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Online Access: | https://doi.org/10.1186/s40164-021-00217-2 |
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doaj-f772eea9bcaf421e93a217a6199605132021-03-21T12:52:42ZengBMCExperimental Hematology & Oncology2162-36192021-03-011011510.1186/s40164-021-00217-2VEXAS syndrome in myelodysplastic syndrome with autoimmune disorderHuijun Huang0Wenjun Zhang1Wenyu Cai2Jinqin Liu3Huijun Wang4Tiejun Qin5Zefeng Xu6Bing Li7Shiqiang Qu8Lijuan Pan9Gang Huang10Robert Peter Gale11Zhijian Xiao12State Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeState Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeHematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeState Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeHematologic Pathology Center, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeMDS and MPN Centre, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical SciencesState Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeState Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeState Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeMDS and MPN Centre, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical SciencesDivisions of Experimental Haematology and Cancer Biology, Cincinnati Children’s Hospital Medical CenterDivision of Experimental Medicine, Department of Medicine, Haematology Section, Imperial College LondonState Key Laboratory of Experimental Haematology, Institute of Haematology and Blood Diseases Hospital, Chinese Academy of Medical Sciences & Peking Union Medical CollegeAbstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overlaps with myelodysplastic syndromes (MDS) with autoimmune disorders (AD). By screening the UBA1 gene sequences derived from MDS patients with AD from our center, we identified one patient with a p.Met41Leu missense mutation in UBA1, who should have been diagnosed as MDS comorbid with VEXAS syndrome. This patient respond poorly to immune suppressive drugs. Patients with MDS and AD who have characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation, these patients are likely to have VEXAS syndrome and unlikely to improve with immunosuppressive drugs and should be considered for other alternative therapies.https://doi.org/10.1186/s40164-021-00217-2Myelodysplastic syndromesAutoimmune disordersVEXAS syndromeUBA1 mutationCytoplasmic vacuolation |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Huijun Huang Wenjun Zhang Wenyu Cai Jinqin Liu Huijun Wang Tiejun Qin Zefeng Xu Bing Li Shiqiang Qu Lijuan Pan Gang Huang Robert Peter Gale Zhijian Xiao |
spellingShingle |
Huijun Huang Wenjun Zhang Wenyu Cai Jinqin Liu Huijun Wang Tiejun Qin Zefeng Xu Bing Li Shiqiang Qu Lijuan Pan Gang Huang Robert Peter Gale Zhijian Xiao VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder Experimental Hematology & Oncology Myelodysplastic syndromes Autoimmune disorders VEXAS syndrome UBA1 mutation Cytoplasmic vacuolation |
author_facet |
Huijun Huang Wenjun Zhang Wenyu Cai Jinqin Liu Huijun Wang Tiejun Qin Zefeng Xu Bing Li Shiqiang Qu Lijuan Pan Gang Huang Robert Peter Gale Zhijian Xiao |
author_sort |
Huijun Huang |
title |
VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder |
title_short |
VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder |
title_full |
VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder |
title_fullStr |
VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder |
title_full_unstemmed |
VEXAS syndrome in myelodysplastic syndrome with autoimmune disorder |
title_sort |
vexas syndrome in myelodysplastic syndrome with autoimmune disorder |
publisher |
BMC |
series |
Experimental Hematology & Oncology |
issn |
2162-3619 |
publishDate |
2021-03-01 |
description |
Abstract VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly-described adult-onset inflammatory syndrome characterized by vacuoles in myeloid and erythroid precursor cells and somatic mutations affecting methionine-41 (p.Met41) in UBA1. The VEXAS syndrome often overlaps with myelodysplastic syndromes (MDS) with autoimmune disorders (AD). By screening the UBA1 gene sequences derived from MDS patients with AD from our center, we identified one patient with a p.Met41Leu missense mutation in UBA1, who should have been diagnosed as MDS comorbid with VEXAS syndrome. This patient respond poorly to immune suppressive drugs. Patients with MDS and AD who have characteristic vacuoles in myeloid and erythroid precursor cells should be screened for UBA1 mutation, these patients are likely to have VEXAS syndrome and unlikely to improve with immunosuppressive drugs and should be considered for other alternative therapies. |
topic |
Myelodysplastic syndromes Autoimmune disorders VEXAS syndrome UBA1 mutation Cytoplasmic vacuolation |
url |
https://doi.org/10.1186/s40164-021-00217-2 |
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