Circulating Tumor DNA in Patients with Early-Onset Systemic Sclerosis and Dermatomyositis

ctDNA detected subclinical cancer in new-onset systemic sclerosis and dermatomyositis, identifying 4 of 6 malignancies (67%) a median of 13 months before diagnosis.

• Why it matters: Cancer risk in these autoimmune diseases is linked to autoantibody-defined subsets, but many malignancies are clinically occult, limiting timely detection.
• What they did: In 134 adults with recent SSc (69) or DM (65), plasma ctDNA was measured using a targeted next-generation sequencing panel of commonly mutated cancer genes, with 18–24 months follow-up.
• The result: ctDNA positivity was associated with an 11.4-fold higher malignancy risk, with negative predictive value 98% and positive predictive value 20% for cancer within the observation window.

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