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Peer-reviewedCC BY-NC-ND 4.0Clinical and Experimental Medicine

Prevalence and prognostic implications of systemic autoinflammatory and autoimmune diseases in myelodysplastic neoplasms: a retrospective Belgian cohort study

  • Stéphane Gysen1
  • Willem Roosens1,2
  • Catho Colson1,2
  • Albrecht Betrains1,3
  • Steven Vanderschueren1,3
  • Rik Schrijvers1,2
  • Marielle Beckers4,5
5 affiliations
  1. 1Department of General Internal Medicine, UZ Leuven, Leuven, Belgium
  2. 2Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, Belgium
  3. 3Department of Microbiology, Immunology and Transplantation, Laboratory of Clinical Infectious and Inflammatory Disease, KU Leuven, Leuven, Belgium
  4. 4Department of Hematology, University Hospitals Leuven, Leuven, Belgium
  5. 5Department of Oncology, Laboratory of Experimental Hematology, KU Leuven, Leuven, Belgium
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Abstract

Myelodysplastic neoplasms (MDS) are clonal hematopoietic disorders marked by ineffective hematopoiesis and an increased risk of progression to acute myeloid leukemia (AML). Growing evidence highlights the role of inflammation in MDS pathogenesis, and systemic autoinflammatory and autoimmune diseases (SIAD) are increasingly recognized as comorbidities. However, data regarding their prognostic implications are conflicting. In this retrospective study, we evaluated 163 patients diagnosed with MDS between 2014 and 2019 at a tertiary care center in Belgium to determine the prevalence, clinical features, and prognostic implications of SIAD. SIAD manifestations were categorized as undifferentiated autoinflammation, well-established autoinflammatory diseases, or well-established autoimmune diseases. Clinical, laboratory, cytogenetic, and molecular parameters were assessed, including mutational profiling via next-generation sequencing. SIAD was identified in 24% of patients, most commonly presenting as undifferentiated autoinflammation and well-established autoinflammatory diseases. The most frequent symptoms included fever of unknown origin, night sweats, and arthralgia/arthritis. Mutations affecting DNMT3A and TET2, both encoding epigenetic regulators, were the most prevalent genetic alterations and there were no significant differences in mutational profiles between SIAD and non-SIAD groups. The onset of SIAD most often coincided with the time of MDS diagnosis. Rates of AML transformation and overall survival did not differ significantly between MDS patients with and without SIAD. SIAD was present in approximately one in four MDS patients and often required immunomodulatory treatment but did not significantly affect prognosis in terms of AML progression or overall survival. * shared first authorship. # shared last authorship.

Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10238-026-02257-6.

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Cite

BibTeXRIS
BibTeX
@article{gysen2026prevalence,
  title = {{Prevalence and prognostic implications of systemic autoinflammatory and autoimmune diseases in myelodysplastic neoplasms: a retrospective Belgian cohort study}},
  author = {Stéphane Gysen and Willem Roosens and Catho Colson and Albrecht Betrains and Steven Vanderschueren and Rik Schrijvers and Marielle Beckers},
  journal = {Clinical and Experimental Medicine},
  year = {2026},
  month = aug,
  doi = {10.1007/s10238-026-02257-6},
  url = {https://doi.org/10.1007/s10238-026-02257-6},
  note = {CC BY-NC-ND 4.0},
}
RIS
TY  - JOUR
TI  - Prevalence and prognostic implications of systemic autoinflammatory and autoimmune diseases in myelodysplastic neoplasms: a retrospective Belgian cohort study
AU  - Stéphane Gysen
AU  - Willem Roosens
AU  - Catho Colson
AU  - Albrecht Betrains
AU  - Steven Vanderschueren
AU  - Rik Schrijvers
AU  - Marielle Beckers
PY  - 2026
DA  - 2026/08/07
JO  - Clinical and Experimental Medicine
DO  - 10.1007/s10238-026-02257-6
UR  - https://doi.org/10.1007/s10238-026-02257-6
AB  - Myelodysplastic neoplasms (MDS) are clonal hematopoietic disorders marked by ineffective hematopoiesis and an increased risk of progression to acute myeloid leukemia (AML). Growing evidence highlights the role of inflammation in MDS pathogenesis, and systemic autoinflammatory and autoimmune diseases (SIAD) are increasingly recognized as comorbidities. However, data regarding their prognostic implications are conflicting. In this retrospective study, we evaluated 163 patients diagnosed with MDS between 2014 and 2019 at a tertiary care center in Belgium to determine the prevalence, clinical features, and prognostic implications of SIAD. SIAD manifestations were categorized as undifferentiated autoinflammation, well-established autoinflammatory diseases, or well-established autoimmune diseases. Clinical, laboratory, cytogenetic, and molecular parameters were assessed, including mutational profiling via next-generation sequencing. SIAD was identified in 24% of patients, most commonly presenting as undifferentiated autoinflammation and well-established autoinflammatory diseases. The most frequent symptoms included fever of unknown origin, night sweats, and arthralgia/arthritis. Mutations affecting DNMT3A and TET2, both encoding epigenetic regulators, were the most prevalent genetic alterations and there were no significant differences in mutational profiles between SIAD and non-SIAD groups. The onset of SIAD most often coincided with the time of MDS diagnosis. Rates of AML transformation and overall survival did not differ significantly between MDS patients with and without SIAD. SIAD was present in approximately one in four MDS patients and often required immunomodulatory treatment but did not significantly affect prognosis in terms of AML progression or overall survival. * shared first authorship. # shared last authorship.  Supplementary Information: The online version contains supplementary material available at https://doi.org/10.1007/s10238-026-02257-6.
SN  - 1591-8890
SN  - 1591-9528
ER  -