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

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)....

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Veröffentlicht in:Cancers 2020-06, Vol.12 (6), p.1482
Hauptverfasser: Junca, Audelaure, Tachon, Gaëlle, Evrard, Camille, Villalva, Claire, Frouin, Eric, Karayan-Tapon, Lucie, Tougeron, David
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container_end_page
container_issue 6
container_start_page 1482
container_title Cancers
container_volume 12
creator Junca, Audelaure
Tachon, Gaëlle
Evrard, Camille
Villalva, Claire
Frouin, Eric
Karayan-Tapon, Lucie
Tougeron, David
description 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 (n = 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.
doi_str_mv 10.3390/cancers12061482
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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 (n = 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.</description><identifier>ISSN: 2072-6694</identifier><identifier>EISSN: 2072-6694</identifier><identifier>DOI: 10.3390/cancers12061482</identifier><identifier>PMID: 32517177</identifier><language>eng</language><publisher>Basel: MDPI AG</publisher><subject>Adenoma ; Biopsy ; Blood tests ; Carcinogenesis ; Colonoscopy ; Colorectal cancer ; Colorectal carcinoma ; Deoxyribonucleic acid ; DNA ; Lesions ; Medical prognosis ; Medical screening ; Metastasis ; Mutation ; Patients ; Polyps ; Tumors</subject><ispartof>Cancers, 2020-06, Vol.12 (6), p.1482</ispartof><rights>2020. 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subjects Adenoma
Biopsy
Blood tests
Carcinogenesis
Colonoscopy
Colorectal cancer
Colorectal carcinoma
Deoxyribonucleic acid
DNA
Lesions
Medical prognosis
Medical screening
Metastasis
Mutation
Patients
Polyps
Tumors
title Detection of Colorectal Cancer and Advanced Adenoma by Liquid Biopsy (Decalib Study): The ddPCR Challenge
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