Cancers, Vol. 16, Pages 12: Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine

Cancers, Vol. 16, Pages 12: Quantitative ctDNA Detection in Hepatoblastoma: Implications for Precision Medicine Cancers doi: 10.3390/cancers16010012 Authors: Smadar Kahana-Edwin James Torpy Lucy E. Cain Anna Mullins Geoffrey McCowage Sarah E. Woodfield Sanjeev A. Vasudevan Dan P. T. Shea Andre E. Minoche Andres F. Espinoza Sarah Kummerfeld Leonard D. Goldstein Jonathan Karpelowsky Hepatoblastoma is characterized by driver mutations in CTNNB1, making it an attractive biomarker for a liquid biopsy approach utilizing circulating tumor DNA (ctDNA). This prospective observational study sought to ascertain the feasibility of ctDNA detection in patients with hepatoblastoma and explore its associations with established clinical indicators and biomarkers, including serum Alpha-fetoprotein (AFP). We obtained 38 plasma samples and 17 tumor samples from 20 patients with hepatoblastoma. These samples were collected at various stages: 10 at initial diagnosis, 17 during neoadjuvant chemotherapy, 6 post-operatively, and 5 at disease recurrence. Utilizing a bespoke sequencing assay we developed called QUENCH, we identified single nucleotide variants and deletions in CTNNB1 ctDNA. Our study demonstrated the capability to quantitate ctDNA down to a variant allele frequency of 0.3%, achieving a sensitivity of 90% for patients at initial diagnosis, and a specificity of 100% at the patient level. Notably, ctDNA positivity correlated with tumor burden, and ctDNA leve...
Source: Cancers - Category: Cancer & Oncology Authors: Tags: Article Source Type: research