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Title:Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS : an under-recognized but prognostically important complication
Authors:Watad, Abdulla (Author)
Kačar, Mark (Author)
Bragazzi, Nicola Luigi (Author)
Zhou, Qiao (Author)
Jassam, Miriam (Author)
Taylor, Jan (Author)
Roman, Eve (Author)
Smith, Alexandra (Author)
Jones, Richard A. (Author)
Amital, Howard (Author)
Language:English
Tipology:1.01 - Original Scientific Article
Organisation:Logo UKPBAG - University Clinic of Respiratory and Allergic Diseases Golnik
Abstract:Objectives: We theorized that myelodysplastic syndrome (MDS) with somatic mutations and karyotype abnormalities are associated with autoinflammation, and that the presence of autoinflammatory disease affected prognosis in MDS. Methods: One hundred thirty-four MDS patients were assessed for the prevalence of autoinflammatory complications and its link with karyotypes and somaticmutation status. Autoinflammatory complications were described either as well-defined autoinflammatory diseases (AD) or undifferentiated "autoinflammatory disease" (UAD) (defined as CRP over 10.0 mg/L on five consecutive occasions, taken at separate times and not explained by infection). Several patient characteristics including demographic, clinical, laboratory, cytogenetics charts, and outcomes, were compared between different groups. Results: Sixty-two (46.3%) patients had an autoinflammatory complication manifesting as arthralgia (43.5% vs. 23.6%, p = 0.0146), arthritis (30.6% vs. 15.3%, p = 0.0340), skin rash (27.4% vs. 12.5%, p = 0.0301), pleuritis (14.5% vs. 4.2%, p = 0.0371) and unexplained fever (27.4% vs. 0%, p < 0.0001). AD were found in 7.4% of MDS patients (with polymyalgia rheumatic being the most frequently one). Classical autoimmune diseases were found only in 4 MDS patients (3.0%). Transcription factor pathway mutations (RUNX1, BCOR, WTI, TP53) (OR 2.20 [95%CI 1.02-4.75], p = 0.0451) and abnormal karyotypes (OR 2.76 [95%CI 1.22-6.26], p = 0.0153) were associated with autoinflammatory complications. Acute leukaemic transformation was more frequent in MDS patients with autoinflammatory features than those without (27.4% vs. 9.7%, p = 0.0080). Conclusions: Autoinflammatory complications are common inMDS. Somatic mutations of transcription factor pathways and abnormal karyotypes are associated with greater risk of autoinflammatory complications, which are themselves linked to malignant transformation and a worse prognosis.
Keywords:myelodysplastic syndromes - genetics, autoinflammation, undifferentiated autoinflammatory disease, molecular characterization, somatic mutations
Year of publishing:2021
Publisher:Frontiers Media SA
Source:Švica
COBISS_ID:57751555 Link is opened in a new window
UDC:616.1
ISSN on article:1664-3224
DOI:10.3389/fimmu.2021.610019 Link is opened in a new window
Note:Nasl. z nasl. zaslona; Soavtor iz Slovenije: Mark Kačar; "Abdulla Watad and Mark Kacar have contributed equally to this work" -> str. 1; Opis vira z dne 30. 3. 2021; Št. prispevka: 610019;
Views:576
Downloads:352
Files:.pdf PDF - Presentation file, download (684,58 KB)
URL URL - Source URL, visit https://www.frontiersin.org/articles/10.3389/fimmu.2021.610019/pdf
 
Journal:Front. immunol.
Frontiers Research Foundation
 
Metadata:XML RDF-CHPDL DC-XML DC-RDF
Rights:© 2021 Watad, Kacar, Bragazzi, Zhou, Jassam, Taylor, Roman, Smith, Jones, Amital, Cargo, McGonagle and Savic
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Licences

License:CC BY 4.0, Creative Commons Attribution 4.0 International
Link:http://creativecommons.org/licenses/by/4.0/
Description:This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.
Licensing start date:19.02.2021

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