SFEBES2025 Poster Oral Presentations Endocrine Cancer and Late Effects (4 abstracts)
Integrated, multi-omics liquid biopsy approach for disease monitoring in adrenocortical carcinoma: a preliminary study
David S Tourigny 1 , Meng Jie Xu 2,3 , Lorenzo Tucci 2,4 , Balqees Shaaban 5 , Yasir S Elhassan 6 , Kassiani Skordilis 7 , Miriam Asia 6 , Alessandro Prete 2,6,7,8 , Ana Crastin 2 , Angela E Taylor 2 , Vasileios Chortis 2,6 & Cristina L Ronchi 2,6,8
1School of Mathematics, University of Birmingham, Birmingham, United Kingdom; 2Department of Metabolism and Systems Science, University of Birmingham, Birmingham, United Kingdom; 3Department of Endocrinology, Taihe Hospital, Hubei University of Medicine, Shiyan, China; 4Medical and Surgical Sciences Department, Alma Mater Studiorum University of Bologna, Bologna, Italy; 5MSc. Bioinformatics Programme, University of Birmingham, Birmingham, United Kingdom; 6Department of Endocrinology, Queen Elizabeth Hospital Birmingham NHS Trust, Birmingham, United Kingdom; 7Department of Pathology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, United Kingdom; 8Centre for Endocrinology, Diabetes and Metabolism, Birmingham Health Partners, Birmingham, United Kingdom
Background: Adrenocortical carcinoma (ACC) is a rare cancer with heterogeneous clinical outcome (5-year survival 10% to 60%). Close disease monitoring is essential but relies on radiological imaging that is challenging and associated with significant radiation exposure. Circulating cell-free DNA (ccfDNA) isolated from plasma can contain tumour-derived somatic variants, which potentially serves as a non-invasive tool for monitoring cancer patients. Similarly, tumour-derived steroid hormone precursors can be detected in urine from ACC patients.
Aim: Evaluate the role of combined ccfDNA sequencing and urine steroid metabolomics (USM) to monitor disease recurrence in ACC patients.
Methods: We investigated 7 patients with histologically confirmed ACC. Plasma and 24h urine samples were collected before primary tumour resection (baseline), early post-operation (28-42 days) and follow-ups at 3, 9 and 12 months. ccfDNA and germline DNA (gDNA) were isolated with commercially available kits. Tumour DNA (tDNA) was isolated from paraffin-embedded tissue. ccfDNA/gDNA/tDNA were sequenced using a customized ACC- specific panel and by shallow (0.1x) whole genome sequencing (sWGS). Somatic variants were called following standard bioinformatic protocols. 34 distinct adrenocortical steroid metabolites were quantified using gas chromatography/mass spectrometry.
Results: tDNA-derived somatic variants were detected in ccfDNA at baseline from 5/7 (71%) patients. Baseline steroid profiles were consistent with ACC diagnosis in 6/7 (86%) patients. No somatic variants or ACC-relevant steroids could be identified early post-operation. 4/7 patients developed radiological recurrence at 3 months, coinciding with detection of somatic variants and steroids in follow-up ccfDNA and USM samples in 3/4 (75%) and 4/4 (100%) cases, respectively. In two cases, sWGS gave a clear signal for recurrence that would otherwise be missed by targeted sequencing alone. 3/7 patients remain tumour free to date without somatic variants or steroids being detected in follow-ups.
Conclusion: Integrating molecular signatures from ccfDNA and USM can be used for monitoring ACC patients.
Volume 109
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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