Is the combination of Myelodysplastic syndromes and pulmonary fibrosis accidental or inevitable?

Yang He; Yahua Li; Yuanyuan Wang; Jinqiao Zhang; Haiying  Chen; Jiequn Chen; Yunxia Zhao

doi:10.5826/mrm.2025.1056

Is the combination of Myelodysplastic syndromes and pulmonary fibrosis accidental or inevitable?

Authors

Yang He Department of Respiratory, Hebei Medical University Third Hospital
Yahua Li Department of Respiratory, Hebei Medical University Third Hospital
Yuanyuan Wang Department of Respiratory, Hebei Medical University Third Hospital
Jinqiao Zhang Department of Hematology, Hebei Medical University Third Hospital
Haiying Chen Department of Rheumatology and Immunology, Hebei Medical University Third Hospital
Jiequn Chen KingMed Diagnostics
Yunxia Zhao Department of Respiratory, Hebei Medical University Third Hospital

DOI: https://doi.org/10.5826/mrm.2025.1056

Keywords:

Myelodysplastic syndromes, pulmonary fibrosis, MTHFR, PCSK9, IFIH1

Abstract

Introduction: We diagnosed and managed a patient with pulmonary fibrosis combined with myelodysplastic syndrome (MDS). This paper aims to investigate, through analysis of our clinical case, a review of the existing literature, and relevant genetic analyses, whether the concurrent occurrence of pulmonary fibrosis and MDS represents a clinical coincidence or reflects an underlying shared pathogenetic mechanism.
Case Presentation: A 64-year-old male farmer with concurrent MDS and interstitial pulmonary fibrosis underwent whole-exome sequencing, which revealed abnormalities in the MTHFR, PCSK9, and IFIH1 genes.
A literature review demonstrated that these three genes are associated with both MDS and pulmonary fibrosis.
A search of previous literature identified six similar case reports over a 22-year period, suggesting that the concurrent occurrence of these two conditions may be linked to CD68+ cells, myeloperoxidase (MPO)-positive inflammatory cells, VEXAS syndrome, telomere diseases, and other factors.
Conclusion: MTHFR, IFIH1, PCSK9 and CTC1 are involved in key pathways including folate metabolism, immune regulation, inflammatory responses and telomere disorders, which may contribute to the pathogenesis of both MDS and pulmonary fibrosis. The coexistence of these two conditions is likely attributed to complex interactions among multiple gene mutations, environmental triggers, and dysregulated immune processes, rather than a single.

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