What question did this study set out to answer?

To investigate the prognostic significance of cfDNA in patients diagnosed with Erdheim-Chester disease.

December 8, 2025BloodOpen Access

Circulating cell-free BRAFV600E as a biomarker in patients with erdheim-chester disease

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Findings in erdheim-chester disease show cfDNA as a biomarker for therapy response, suggesting implications for patient monitoring.

To investigate the prognostic significance of cfDNA in patients diagnosed with Erdheim-Chester disease.
Included 40 patients diagnosed with Erdheim-Chester disease with biopsy and plasma samples.
Analyzed plasma cfDNA using QX200TM Droplet Digital PCR System to detect mutations.
Patients underwent systemic therapy, including interferon and targeted therapies.
BRAFV600E mutation was detected in 85% of patients.
Post-therapy, the mean level of cfDNA decreased significantly from 0.618% to 0.005%.
17.5% of patients experienced disease relapse after a median follow-up of 22 months.

Lin et al. (2025) studied this question.

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