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Detection of Colorectal Cancer and Advanced Adenoma by Liquid Biopsy (Decalib Study): The DdPCR Challenge

Overview
Journal Cancers (Basel)
Publisher MDPI
Specialty Oncology
Date 2020 Jun 11
PMID 32517177
Citations 14
Authors
Affiliations
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Abstract

Background: In most countries, participation in colorectal cancer (CRC) screening programs with the immunological fecal occult blood test (iFOBT) is low. Mutations of RAS and BRAF occur early in colorectal carcinogenesis and "liquid biopsy" allows detection of mutated circulating tumor DNA (ctDNA). This prospective study aims to evaluate the performance of RAS and BRAF-mutated ctDNA in detecting CRC and advanced adenomas (AA).

Methods: One hundred and thirty patients who underwent colonoscopy for suspicion of colorectal lesion were included and divided into four groups: 20 CRC, 39 AA, 31 non-advanced adenoma and/or hyperplastic polyp(s) (NAA) and 40 with no lesion. Mutated ctDNA was analyzed by droplet digital PCR.

Results: ctDNA was detected in 45.0% of CRC, in 2.6% of AA and none of the NAA and "no-lesion" groups. All patients with stage II to IV mutated CRC had detectable ctDNA ( = 8/8). Among the mutated AA, only one patient had detectable ctDNA (4.3%), maybe due to limited technical sensitivity or to a low rate of ctDNA or even the absence ctDNA in plasma. Specificity and sensitivity of KRAS- and BRAF-mutated ctDNA for the detection of all CRC and AA were 100% and 16.9%, respectively.

Conclusions: ctDNA had high sensitivity in detection of advanced mutated CRC but was unable to sensitively detect AA. ctDNA analysis was easy to perform and readily accepted by the population but requires combination with other circulating biomarkers before replacing iFOBT.

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References
1.
Piton N, Lonchamp E, Nowak F, Sabourin J . Real-Life Distribution of KRAS and NRAS Mutations in Metastatic Colorectal Carcinoma from French Routine Genotyping. Cancer Epidemiol Biomarkers Prev. 2015; 24(9):1416-8. DOI: 10.1158/1055-9965.EPI-15-0059. View

2.
Vitellius C, Laly M, Banaszuk A, Deherce I, Cornet N, Bertrais S . Contribution of the OC Sensor immunoassay in comparison to the Hemoccult II guaiac-test in organized colorectal cancer screening. Eur J Epidemiol. 2018; 34(2):163-172. DOI: 10.1007/s10654-018-0471-z. View

3.
Navarro M, Nicolas A, Ferrandez A, Lanas A . Colorectal cancer population screening programs worldwide in 2016: An update. World J Gastroenterol. 2017; 23(20):3632-3642. PMC: 5449420. DOI: 10.3748/wjg.v23.i20.3632. View

4.
Lecomte T, Ceze N, Dorval E, Laurent-Puig P . Circulating free tumor DNA and colorectal cancer. Gastroenterol Clin Biol. 2010; 34(12):662-81. DOI: 10.1016/j.gcb.2009.04.015. View

5.
Yang H, Mitchell J, Sepulveda J, Sepulveda A . Molecular and histologic considerations in the assessment of serrated polyps. Arch Pathol Lab Med. 2015; 139(6):730-41. DOI: 10.5858/arpa.2014-0424-RA. View