Nat Commun: Detection and analysis of circulating tumor DNA in tens of thousands of Chinese pan-cancer patients

Genomic analysis has significantly changed the clinical management of multiple malignancies.
circulating tumor DNA (ctDNA) provides a non-invasive way to obtain the patient's genome landscape and operational information.
Chinese a ctDNA-based study conducted by Professor Zeng Qiang of the Institute of Health Management of the People's Liberation Army General Hospital in Shanghai, China, covering more than 10,000 Chinese pan-cancer patients.
percentage of plasma samples that detected CH mutations in different cancer samples detected mutated gene distributions collected 14,972 exo-weekly blood samples from 12,337 patients, separating plasma DNA and white blood cell DNA.
Through parallel sequencing of DNA from plasma and white blood cell sources, 14% of plasma free DNA samples carried cloned hematostoma (CH) mutations, and the detectability of CH variants increased with the age of the patient.
the sensitivity of ctDNA testing for different cancers eliminated the CH mutation, ctDNA was detected in 73.5% of plasma samples, with the highest ctDNA detection rates for small cell lung cancer and prostate cancer (91.1% and 87.9%, respectively).
the ctDNA map reveals mutations in different cancers genetic mutation characteristics CtDNA map reveals a similar situation to tissue-based testing databases (R2-0.87, p-lt;0.001), but also shows some differences, such as non-small cell lung cancer Medium-high EGFR (44.8% vs 25.2%), low KRAS (6.8% vs 27.2%) frequency, high TP53 frequency (53.1% vs 28.6%) in hepatocellular carcinoma.
41.2% of plasma samples provided by the ctDNA spectrum associated with treatment prognosis carried drug sensitivity variants.
clinical follow-up was completed in 137 patients targeted with ctDNA maps, including 114 cases of non-small cell lung cancer, 17 cases of breast cancer and 6 cases of colorectal cancer.
number of mutations and allegen frequency (AF) in plasma ctDNA were moderately negatively associated with the patient's PFS.
, the study may help to explore therapeutic targets and combined treatment options.
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