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Mini Oral session: Developmental and precision medicine

260MO - Liquid biopsy NGS test identifies actionable DNA mutations from CSF specimens of lung cancer patients


02 Dec 2022


Mini Oral session: Developmental and precision medicine


Laboratory Diagnostics;  Molecular Oncology

Tumour Site

Non-Small Cell Lung Cancer


John Chia


Annals of Oncology (2022) 33 (suppl_9): S1533-S1539. 10.1016/annonc/annonc1130


D. Chan1, T.M. Chin2, J. Chia3, Y.C.J. Li4, J.W. Tsang5, J. Poh6, C.W. Wong7, M. Tan7

Author affiliations

  • 1 Medical Oncology Dept., Icon Cancer Centre Mount Elizabeth, Singapore/SG
  • 2 Medical Oncology, Parkway Cancer Centre - Gleneagles Hospital, 258500 - Singapore/SG
  • 3 Medical Oncology, Curie Oncology, 329563 - Singapore/SG
  • 4 Oncology Department, Hong Kong United Oncology Centre, Kowloon/HK
  • 5 Oncology, Hong Kong United Oncology Centre, Hong Kong/HK
  • 6 Research & Development, Lucence Diagnostics Pte Ltd, 159552 - Singapore/SG
  • 7 Medical Affairs, Lucence Diagnostics Pte Ltd, 159552 - Singapore/SG


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Abstract 260MO


Lung cancer is one of the top causes of cancer death. Liquid biopsies have emerged as a non-invasive method to identify patients who may respond to therapy, enabling dynamic monitoring of minimal residual disease and drug resistance. While plasma specimens have commonly been used for liquid biopsies, we validated the use of cerebrospinal fluid (CSF) for liquid biopsy next-generation sequencing (NGS) testing.


31 clinical CSF specimens from patients diagnosed with lung cancer were subjected to NGS testing in a CAP-accredited and CLIA-certified central laboratory using the using the LiquidHALLMARK® assay, a sensitive liquid biopsy NGS test.


Actionable DNA mutations were detected in 77.4% (24/31) of CSF specimens. In 10 cases where CSF and matched plasma were available, the concordance of actionable mutations was 50% (5/10), with actionable mutations found only in CSF in four cases and actionable mutations found only in plasma in one case. Copy number variation (CNV) was detected in 35.5% (11/31) of cases. In five CNV-positive cases where matched plasma was available, CNVs were detected only in CSF and not in matched plasma. This is consistent with the observation by Wang et. al. that more genomic alterations such as CNVs can be detected in CSF than in plasma. Findings from cytology reports using CSF could be obtained in 10 cases (6 positive and 4 negative cases). The concordance between the presence of malignant cells by cytology and actionable variants by NGS was 90% (9/10), with an EGFR exon 19 deletion identified by NGS but no malignant cells detected by cytology in one case. In two further cases, cytology yielded inconclusive results, while NGS reported actionable findings.


These results demonstrate that NGS can sensitively detect the presence of tumor-associated DNA in CSF specimens from lung cancer patients, enabling detection of disease in the central nervous system such as leptomeningeal metastases.

Reference: Wang Y, Jiang F, Xia R, et al. Unique genomic alterations of cerebrospinal fluid cell-free DNA are critical for targeted therapy of non-small cell lung cancer with leptomeningeal metastasis. Front Oncol. Published online October 4, 2021.

Clinical trial identification

Editorial acknowledgement

Legal entity responsible for the study

Lucence Diagnostics Pte Ltd.


Lucence Diagnostics Pte Ltd.


M. Tan: Financial Interests, Personal and Institutional, Ownership Interest: Lucence. All other authors have declared no conflicts of interest.

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