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Observational Study
. 2024:40:100838.
doi: 10.1016/j.ctarc.2024.100838. Epub 2024 Aug 7.

A blood test measuring DNA methylation of BCAT1 and IKZF1 for detection of lung adenocarcinoma

Faridh Raja Mohamed  1 , Anand Rose  1 , Lorraine Sheehan-Hennessy  2 , Susanne K Pedersen  2 , Kathryn Cornthwaite  2 , Geraldine Laven-Law  2 , Graeme P Young  2 , Erin L Symonds  3 , Jean M Winter  4
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Free article
Observational Study

A blood test measuring DNA methylation of BCAT1 and IKZF1 for detection of lung adenocarcinoma

Faridh Raja Mohamed et al. Cancer Treat Res Commun. 2024.
Free article

Abstract

Background: Colorectal (CRC) and lung adenocarcinoma share many genetic and pathological similarities. A circulating tumor DNA (ctDNA) test for CRC may also be useful for detection of lung adenocarcinoma. This study determined if a methylated BCAT1/IKZF1 ctDNA test for CRC can be used for detection of lung adenocarcinoma.

Patients and methods: Circulating cell free DNA (ccfDNA) was extracted from plasma collected prospectively from healthy controls, patients in remission from CRC, patients with lung adenocarcinoma, and patients with isolated metastatic CRC lung lesions. Plasma ccfDNA was bisulfite converted and assessed for methylated BCAT1/IKZF1 by quantitative real-time PCR. Comparisons between the different patient groups for a positive ctDNA test (BCAT1 and/or IKZF1) and ctDNA levels (% of total ccfDNA), as well as any associations with clinicopathological and demographic features, were assessed.

Results: Methylated BCAT1/IKZF1 ctDNA was detected in 18/39 (46.2 %) patients with lung adenocarcinoma, which was significantly (p < 0.001) higher compared to healthy controls (49/606; 8.1 %) and patients in remission from CRC (22/171, 12.9 %). Patients with stage III/IV lung adenocarcinoma had higher BCAT1/IKZF1 ctDNA positivity compared to stage I/II cases (68.2 % vs 17.7 %, p < 0.01), where a significantly higher proportion tested positive for methylated IKZF1 ctDNA alone (54.6 % vs 5.9 %, p < 0.001). There was no difference in BCAT1/IKZF1 ctDNA test positivity between patients with stage IV primary lung adenocarcinoma (n = 17) compared to lung-metastasising CRC cases (n = 17; 70.6 % v 64.3 %).

Conclusion: A ctDNA test measuring methylated BCAT1/IKZF1 can sensitively detect lung adenocarcinoma and may be a promising aid for detection of advanced disease.

Clinical trial registrations: Australian and New Zealand Clinical Trials Registry, www.anzctr.org.au, ACTRN12616001138471, ACTRN12611000318987.

Keywords: Biomarker; Colorectal cancer; Diagnostic test; Lung cancer.

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Conflict of interest statement

Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Erin L Symonds and Graeme P Young reports financial support was provided by Clinical Genomics. At the time of sample collection and data analysis, GPY was a paid consultant of Clinical Genomics and SKP was employed by Clinical Genomics. No conflicts exist for all other authors If there are other authors, they declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

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