Correlation analysis between auto-immunological and mutational profiles in myelodysplastic syndromes.
Inflamm Res
; 72(8): 1695-1707, 2023 Aug.
Article
em En
| MEDLINE
| ID: mdl-37507570
ABSTRACT
OBJECTIVE AND DESIGN:
Systemic-Inflammatory-Autoimmune-Diseases (SIAD) is increasingly considered in Myelodysplastic-Syndromes (MDS). In this line, we evaluated the MDS auto-immunological profile, correlating it to the mutational landscape, trying to identify a molecular-genetic trigger agent related to SIAD. METHODS AND MATERIALS Eighty-one MDS were enrolled and t-NGS was performed. Anti-Nuclear-Antibodies (ANA) were tested, and ANA-antigenic-specificity was characterized by ANA-profile, ENA-screen, anti-dsDNA. Non-Hematological-Patients (NHP) and Healthy-Donors (HD) were used as controls.RESULTS:
At clinically relevant cut-off (≥ 1160), ANA was significantly more frequent in MDS, while ANA-antigenic-specificity showed a low association rate. ANA ≥ 1160-positive MDS showed a mutational landscape similar to ANA-negative/ANA < 1160 MDS. No significant correlations between mutational and immunological profiles were found and UBA1 mutations, related to VEXAS, were absent.CONCLUSIONS:
Although ANA-positivity was found to be increased in MDS, the low ANA-antigenic-specificity suggests that autoantibodies didn't recognize autoimmune-pathognomonic antigens. The lack of relationship between genetic profile and ANA-positivity, suggests that MDS genetic variants may not be the direct cause of SIAD.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Autoanticorpos
/
Síndromes Mielodisplásicas
Tipo de estudo:
Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Inflamm Res
Assunto da revista:
ALERGIA E IMUNOLOGIA
/
PATOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Itália