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

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

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. Original publication 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/

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

Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 4.0 License.

Available for download on Friday, May 01, 2020

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