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

introductionWe 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.

conclusionMTHFR, 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.