This study examined whether peripheral blood DNA methylation patterns could distinguish primary Sjögren's disease (SjD) patients who later developed lymphoma (n=6, sampled ≥1 year before diagnosis) from those who did not (n=84), using Illumina HumanMethylation450K arrays on samples collected 1998–2013.
474 differentially methylated CpG positions (DMPs) were identified (87% hypomethylated in pre-lymphoma patients); the top DMP mapped to *TK1* (p=7.6×10⁻¹⁵, Δβ=−0.16), followed by *FCER1G* and *MDH2*. Pre-lymphoma patients also showed reduced NK cell and increased monocyte proportions.
The pre-lymphoma group was very small (n=6), making results highly susceptible to outlier effects and limiting statistical power; findings are exploratory and explicitly require independent replication. Blood cell-type proportion estimates were computational, not measured directly.
These findings are not yet ready for clinical use, but they suggest that epigenetic profiling of blood in SjD patients may one day flag lymphoma risk years before diagnosis. Clinicians should continue standard lymphoma surveillance in SjD while awaiting replication studies.
Explore related topics
