Somatic Mitochondrial–Nuclear DNA Transfer in Lymphoproliferative Disorders

ABSTRACT Introduction Somatic mitochondrial–nuclear DNA transfer (SMNT) is a process by which mitochondrial DNA (mtDNA), of varying sizes, integrate into the nuclear genome and has been previously reported in solid tumours. Methods EuroClonality‐NGS DNA Capture sequencing data from 755 lymphoid malignancies and 59 lymphoid cell lines were analysed for SMNT‐associated structural variants. Results Five malignancies (0.66%) harboured SMNTs, predominantly involving IGH genes, with one PTEN gene disruption identified. Breakpoint features supported non‐homologous end joining‐mediated integration. Conclusion SMNTs are rare but recurrent events in lymphoid malignancies and may represent stable clonal markers for minimal residual disease monitoring. Trial Registration The authors have confirmed clinical trial registration is not needed for this submission.