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Identification of Circulating Tumor DNA for the Early Detection of Small-cell Lung Cancer

L. Fernandez-Cuesta, S. Perdomo, PH. Avogbe, N. Leblay, TM. Delhomme, V. Gaborieau, B. Abedi-Ardekani, E. Chanudet, M. Olivier, D. Zaridze, A. Mukeria, M. Vilensky, I. Holcatova, J. Polesel, L. Simonato, C. Canova, P. Lagiou, C. Brambilla, E....

. 2016 ; 10 (-) : 117-23. [pub] 20160625

Jazyk angličtina Země Nizozemsko

Typ dokumentu časopisecké články

Perzistentní odkaz   https://www.medvik.cz/link/bmc17013726

Circulating tumor DNA (ctDNA) is emerging as a key potential biomarker for post-diagnosis surveillance but it may also play a crucial role in the detection of pre-clinical cancer. Small-cell lung cancer (SCLC) is an excellent candidate for early detection given there are no successful therapeutic options for late-stage disease, and it displays almost universal inactivation of TP53. We assessed the presence of TP53 mutations in the cell-free DNA (cfDNA) extracted from the plasma of 51 SCLC cases and 123 non-cancer controls. We identified mutations using a pipeline specifically designed to accurately detect variants at very low fractions. We detected TP53 mutations in the cfDNA of 49% SCLC patients and 11.4% of non-cancer controls. When stratifying the 51 initial SCLC cases by stage, TP53 mutations were detected in the cfDNA of 35.7% early-stage and 54.1% late-stage SCLC patients. The results in the controls were further replicated in 10.8% of an independent series of 102 non-cancer controls. The detection of TP53 mutations in 11% of the 225 non-cancer controls suggests that somatic mutations in cfDNA among individuals without any cancer diagnosis is a common occurrence, and poses serious challenges for the development of ctDNA screening tests.

Citace poskytuje Crossref.org

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