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Naslov:Somatic mutations and the risk of undifferentiated autoinflammatory disease in MDS : an under-recognized but prognostically important complication
Avtorji:ID Watad, Abdulla (Avtor)
ID Kačar, Mark, Klinika Golnik (Avtor)
ID Bragazzi, Nicola Luigi (Avtor)
ID Zhou, Qiao (Avtor)
ID Jassam, Miriam (Avtor)
ID Taylor, Jan (Avtor)
ID Roman, Eve (Avtor)
ID Smith, Alexandra (Avtor)
ID Jones, Richard A. (Avtor)
ID Amital, Howard (Avtor)
Datoteke:.pdf PDF - Predstavitvena datoteka, prenos (684,58 KB)
MD5: 63C4C8014615A01BD615F843CEC939C6
 
URL URL - Izvorni URL, za dostop obiščite https://www.frontiersin.org/articles/10.3389/fimmu.2021.610019/pdf
 
Jezik:Angleški jezik
Tipologija:1.01 - Izvirni znanstveni članek
Organizacija:Logo UKPBAG - Univerzitetna klinika za pljučne bolezni in alergijo Golnik
Povzetek: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.
Ključne besede:myelodysplastic syndromes - genetics, autoinflammation, undifferentiated autoinflammatory disease, molecular characterization, somatic mutations
Status publikacije:V tisku
Verzija publikacije:Objavljena publikacija
Kraj izida:Švica
Založnik:Frontiers Media SA
Leto izida:2021
Št. strani:str. 1-12
Številčenje:[Vol.] 12
PID:20.500.12556/DiRROS-13806 Novo okno
UDK:616.1
ISSN pri članku:1664-3224
DOI:10.3389/fimmu.2021.610019 Novo okno
COBISS.SI-ID:57751555 Novo okno
Avtorske pravice:© 2021 Watad, Kacar, Bragazzi, Zhou, Jassam, Taylor, Roman, Smith, Jones, Amital, Cargo, McGonagle and Savic
Opomba: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;
Datum objave v DiRROS:31.03.2021
Število ogledov:1138
Število prenosov:776
Metapodatki:XML RDF-CHPDL DC-XML DC-RDF
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Gradivo je del revije

Naslov:Frontiers in immunology
Skrajšan naslov:Front. immunol.
Založnik:Frontiers Research Foundation
ISSN:1664-3224
COBISS.SI-ID:30774233 Novo okno

Licence

Licenca:CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
Povezava:http://creativecommons.org/licenses/by/4.0/deed.sl
Opis:To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.
Začetek licenciranja:19.02.2021

Sekundarni jezik

Jezik:Ni določen
Ključne besede:mielodisplastični sindrom - genetika, avtovnetne bolezni, nediferencirana avtovnetna bolezen, molekularna karakterizacija, somatske mutacije


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