The Effect of Unique Molecular Identifier Family Size Using Tumor-Informed Circulating Tumor DNA Analysis in Childhood Cancers
Artikel i vetenskaplig tidskrift, 2026
Analysis of circulating tumor DNA (ctDNA) provides a molecular assessment that can complement routine imaging in childhood cancer management. Detailed monitoring of ctDNA levels may provide information on treatment efficacy and resistance and minimal residual disease and allows for early detection of relapse. Here, tumor-informed ctDNA analysis was applied to 90 blood plasma samples collected from eight children with malignant tumors. A total of 4 to 10 tumor-specific mutations per patient were assessed using SiMSen-Seq, a digital sequencing approach using unique molecular identifiers (UMIs). The effects of individual SiMSen-Seq assays and plasma samples were evaluated in relation to their impact on background error rate, number of detected target molecules, and mutant calling using different UMI family size cutoff settings. The use of at least two sequencing reads per UMI provided the best overall performance by generating the highest number of detected target molecules and hence the optimal chance to detect low-frequency mutations. Data were consistent between SiMSen-Seq assays and plasma samples, providing robust ctDNA profiling over time for all patients. In conclusion, the results show that optimal use of UMIs in tumor-informed ctDNA analysis enables sensitive molecular readout that can assist in management of childhood cancers.
ctDNA
cancer
childhood cancers
imaging
Författare
Tobias Österlund
Göteborgs universitet
Sahlgrenska universitetssjukhuset
Daniel Andersson
Göteborgs universitet
Raghda R. Ibrahim
Göteborgs universitet
Elisabeth Mellström
Sahlgrenska universitetssjukhuset
Göteborgs universitet
Jenny Lundmark
RISE Research Institutes of Sweden
Junrui Li
Göteborgs universitet
Stefan Filges
Göteborgs universitet
Simsen Diagnostics AB
Peter Micallef
Sahlgrenska universitetssjukhuset
Göteborgs universitet
Manuel Luna Santamaría
Göteborgs universitet
Mandy Escobar
Göteborgs universitet
Pia Mouhanna
Länssjukhuset Ryhov
Göteborgs universitet
Firaol T. Kebede
Göteborgs universitet
Christoffer Vannas
Göteborgs universitet
Sahlgrenska universitetssjukhuset
Ida Rahmqvist
Göteborgs universitet
Fani Pujol-Calderón
Göteborgs universitet
Agnes Dahlstrand Rudin
Göteborgs universitet
Wilma Franssila
Göteborgs universitet
Åsa Torinsson Naluai
Göteborgs universitet
Sahlgrenska universitetssjukhuset
Serik Sagitov
Chalmers, Matematiska vetenskaper
Joakim Håkansson
RISE Research Institutes of Sweden
Göteborgs universitet
Henrik Fagman
Sahlgrenska universitetssjukhuset
Göteborgs universitet
Martin Dalin
Göteborgs universitet
Sahlgrenska universitetssjukhuset
Anders Ståhlberg
Göteborgs universitet
Sahlgrenska universitetssjukhuset
Journal of Molecular Diagnostics
1525-1578 (ISSN) 19437811 (eISSN)
Vol. In PressÄmneskategorier (SSIF 2025)
Cancer och onkologi
DOI
10.1016/j.jmoldx.2026.08.002
PubMed
42727690
Relaterade dataset
Supplemental data [dataset]
DOI: 10.1016/j.jmoldx.2026.08.002