Document Type
Journal Article
Publication Title
The Journal of Molecular Diagnostics : JMD
ISSN
1943-7811
Volume
21
Issue
3
First Page
418
Last Page
426
PubMed ID
30731208
Publisher
Elsevier
School
School of Medical and Health Sciences
RAS ID
28780
Funders
Supported by the Peter MacCallum Cancer Foundation, Gundry Perpetual Endowment 1607 (S.Q.W.), a Cancer Research Trust fellowship (E.S.G.), Western Australia Cancer Council grant 1100249 (E.S.G.), and National Health and Medical Research Council (NHMRC) grant 1046711 (M.Z.).
Grant Number
NHMRC Number : 1046711
Abstract
The analysis of circulating tumor DNA provides a minimally invasive molecular interrogation that has the potential to guide treatment selection and disease monitoring. Here, the authors evaluated a custom UltraSEEK melanoma panel for the MassARRAY system, probing for 61 mutations over 13 genes. The analytical sensitivity and clinical accuracy of the UltraSEEK melanoma panel was compared with droplet digital PCR. The blinded analysis of 68 mutations detected in 48 plasma samples from stage IV melanoma patients revealed a concordance of 88% between the two platforms. Further comparison of both methods for the detection of BRAF V600E mutations in 77 plasma samples demonstrated a Cohen's κ of 0.826 (bias-corrected and accelerated 95% CI, 0.669-0.946). These results indicate that the UltraSEEK melanoma panel is as sensitive as droplet digital PCR for the detection of circulating tumor DNA in this cohort of patients but highlight the need for detected variants to be confirmed orthogonally to mitigate any false-positive results. The MassARRAY system enables rapid and sensitive genotyping for the detection of multiple melanoma-associated mutations in plasma.
DOI
10.1016/j.jmoldx.2018.12.001
Creative Commons License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.
Comments
This is an Author's Accepted Manuscript of: Gray, E. S., Witkowski, T., Pereira, M., Calapre, L., Herron, K., Irwin, D., ... Wong, S. Q. (2019). Genomic analysis of circulating tumor DNA using a melanoma-specific UltraSEEK Oncogene Panel. The Journal of Molecular Diagnostics, 21(3), 418-426. Available here
This manuscript version is made Available under the CC-BY-NC-ND 4.0 license http://creativecommons.org/licenses/by-nc-nd/4.0/