Circulating cell-free DNA-based biomarkers for prognostication and disease monitoring in adrenocortical carcinoma
Authors' conclusion
ccfDNA-related BMs are frequently detected in ACC patients and represent a promising, minimally invasive tool to predict clinical outcome and complement surveillance imaging. Our findings will be validated in a larger cohort of ACCs with long-term follow-up.
Study context
- Population
- Patients with adrenocortical carcinoma (ACC); serial circulating cell-free DNA (ccfDNA) samples in 19 ACC patients during follow-up (median 9 months)
- Participants
- 34 vs 23
- Comparison
- ACC patients vs healthy subjects
- ACCn = 34
- HSn = 23reference
- Outcome
- ccfDNA concentration (BM1)
Methodological detailscase-control, serial sampling during follow-up, Targeted sequencing with a customized panel of 27 ACC-specific genes; tumour DNA sequenced in 22/34 cases
- Case-control
- Serial sampling during follow-up
- Targeted sequencing with a customized panel of 27 ACC-specific genes; tumour DNA sequenced in 22/34 cases
Main finding
As reported in the abstract
P < 0.0001
- ACC above cut-off of 0.146 ng/µL (mean HS + 2 SD, positive BM1)
- 96%
Observational data: associations, not effects.
Further findings
- ≥1 somatic mutation at ccfDNA sequencing (positive BM2) — ACC
- 47%
Combined ccfDNA-BM score and survival
- PFS HR
- 2.63 (95% CI, 1.13-6.13; P = .010)
- OS HR
- 5.98 (95% CI, 2.29-15.6; P = .0001)
Detection of ACC recurrence or progress during monitoring
- Positive BM2 specificity
- 100%
- Positive BM2 sensitivity
- 67%
- Positive BM2 showed the best specificity and sensitivity compared with BM1
Original publication
Circulating cell-free DNA-based biomarkers for prognostication and disease monitoring in adrenocortical carcinoma. Eur J Endocrinol. Published 7 March 2024. doi:10.
Composed by AI from the published abstract and checked against it. How Briefs are made →