Ett material bestående av 93 plasmaprov från individer med misstänkt lungcancer, varav 69 matchade lungcancerprov från både blodprov och biopsimaterial, analyserades med NGS-teknik.

Analys av cirkulerande tumör-DNA från blodprov (»liquid biopsies«) detekterar ca 75 procent av behandlingsvägledande mutationer i senare stadium av lungcancer. 

Tidigare diagnos av lungcancer kan bidra till kortare standardiserade vårdförloppstider och tidigare behandlingsstart.

To investigate the  clinical use of analyzing circulating tumor DNA in a clinical setting we present a pilot study comprising 93 patients from individuals with suspected lung cancer. The study aimed to evaluate the capability of analyzing circulating tumor DNA at the initial medical visit in order to detect genetic changes and mutations associated with lung cancer in plasma samples. Tumor DNA from plasma was extracted and analyzed with Next Generation Sequencing (NGS) and the result was compared with a matched tumor tissue collected in close connection from the same individual. Cancer-associated genetic mutations could be confirmed in about 60 percent of the plasma samples, and we observed a higher degree of conformance in patients with a more advanced disease. The results from the study provide valuable insights for an early clinical use of analyzing circulating tumor DNA in cases of suspected lung cancer, which could contribute to improving early diagnosis and treatment strategies for patients with lung cancer.