Please use this identifier to cite or link to this item: https://ahro.austin.org.au/austinjspui/handle/1/20333
Title: Genomic Analysis of Circulating Tumor DNA Using a Melanoma-Specific UltraSEEK Oncogene Panel.
Austin Authors: Gray, Elin S;Witkowski, Tom ;Pereira, Michelle;Calapre, Leslie;Herron, Karl;Irwin, Darryl;Chapman, Brett;Khattak, Muhammad A;Raleigh, Jeanette;Hatzimihalis, Athena;Cebon, Jonathan S ;Sandhu, Shahneen;McArthur, Grant A;Millward, Michael;Ziman, Melanie;Dobrovic, Alexander ;Wong, Stephen Q
Affiliation: Cancer Research, Peter MacCallum Cancer Centre, Melbourne, Victoria
School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia
Department of Medical Oncology, Fiona Stanley Hospital, Murdoch, Western Australia
Department of Medical Oncology, Sir Charles Gairdner Hospital, Nedlands, Western Australia
School of Biomedical Sciences, The University of Western Australia, Crawley, Western Australia
Olivia Newton-John Cancer Wellness and Research Centre, Austin Health, Heidelberg, Victoria, Australia
Agena Bioscience, Brisbane, Queensland, Australia
Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, Victoria
School of Medicine and Pharmacology, The University of Western Australia, Crawley, Western Australia
School of Cancer Medicine, La Trobe University, Victoria
Department of Pathology, Peter MacCallum Cancer Centre, Melbourne, Victoria
Department of Clinical Pathology University of Melbourne, Victoria, Australia
Issue Date: May-2019
metadata.dc.date: 2019-02-05
Publication information: The Journal of molecular diagnostics : JMD 2019; 21(3): 418-126
Abstract: The analysis of circulating tumor DNA (ctDNA) provides a minimally-invasive molecular interrogation that has the potential to guide treatment selection and disease monitoring. Here, we 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 to 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 (BCa 95% CI 0.669 to 0.946). Our results indicate that the UltraSEEK melanoma panel is as sensitive as ddPCR for the detection of ctDNA 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.
URI: http://ahro.austin.org.au/austinjspui/handle/1/20333
DOI: 10.1016/j.jmoldx.2018.12.001
ORCID: 0000-0002-3898-950X
0000-0003-3414-112X
PubMed URL: 30731208
Type: Journal Article
Appears in Collections:Journal articles

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