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Title:Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS : an under-recognized but prognostically important complication
Authors:ID Watad, Abdulla (Author)
ID Kačar, Mark, Klinika Golnik (Author)
ID Bragazzi, Nicola Luigi (Author)
ID Zhou, Qiao (Author)
ID Jassam, Miriam (Author)
ID Taylor, Jan (Author)
ID Roman, Eve (Author)
ID Smith, Alexandra (Author)
ID Jones, Richard A. (Author)
ID Amital, Howard (Author)
Files:.pdf PDF - Presentation file, download (684,58 KB)
MD5: 63C4C8014615A01BD615F843CEC939C6
URL URL - Source URL, visit
Typology:1.01 - Original Scientific Article
Organization: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
Publication status:In print
Publication version:Version of Record
Place of publishing:Švica
Publisher:Frontiers Media SA
Year of publishing:2021
Number of pages:str. 1-12
Numbering:[Vol.] 12
PID:20.500.12556/DiRROS-13806 New window
ISSN on article:1664-3224
DOI:10.3389/fimmu.2021.610019 New window
COBISS.SI-ID:57751555 New window
Copyright:© 2021 Watad, Kacar, Bragazzi, Zhou, Jassam, Taylor, Roman, Smith, Jones, Amital, Cargo, McGonagle and Savic
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;
Publication date in DiRROS:31.03.2021
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Record is a part of a journal

Title:Frontiers in immunology
Shortened title:Front. immunol.
Publisher:Frontiers Research Foundation
COBISS.SI-ID:30774233 New window


License:CC BY 4.0, Creative Commons Attribution 4.0 International
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

Secondary language

Keywords:mielodisplastični sindrom - genetika, avtovnetne bolezni, nediferencirana avtovnetna bolezen, molekularna karakterizacija, somatske mutacije