A targeted methylation marker panel demonstrated good sensitivity and specificity for detecting the major histologic subtypes of lung cancer from blood, according to the results of a study presented at the 2020 World Conference on Lung Cancer in Singapore.

Methylation can adopt a tissue-specific pattern that is detectable in plasma via cell-free DNA (cfDNA).  The aim of this study was to determine if a methylation panel of targeted regions in cfDNA could detect lung cancer.

In the study, 10 biomarkers were selected from data from The Cancer Genome Atlas (TCGA) consortium. Quantitative polymerase chain reaction (PCR) was used to target specific regions of cfDNA. Further analysis used delta cycle threshold values.

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The overall sensitivity of the test was 73%, including 73% for stage I, 75% for stage II, and 77% for stage III disease. The sensitivity was similar for major histologic subtypes, including 82% for adenocarcinoma, 80% for squamous cell carcinoma, and 73% for small cell lung cancer. For other histologies, however, the sensitivity was 40%.

The specificity was 90%. Prediction of lung cancer was not associated with main clinical or physiologic features such as sex, smoking history, histology, and age (all P >.05).

The study author concluded that “this method could serve as the basis for further development of a highly accurate and minimally invasive blood-based screening test for [a] wider population.”

Disclosures: Kristi Kruusmaa disclosed employment with Universal Diagnostics S.L.


Kruusmaa K. Cell-free DNA (cfDNA) methylation assay allows for early detection and identification of lung cancer. Presented at: 2020 World Conference on Lung Cancer Singapore; January 28-31, 2020.