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

Cancers
Audelaure JuncaDavid Tougeron

Abstract

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). 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. 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. ctDNA had high sensitivity in detection of advanced mutated CRC but...Continue Reading

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May 6, 2021·International Journal of Molecular Sciences·Vincenza Ylenia CusenzaRaffaele Frazzi
Aug 28, 2021·Biomedicines·Irina Palacín-AlianaÁngel Ayuso-Sacido

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Methods Mentioned

BETA
blood collection
biopsy
PCR
biopsies

Software Mentioned

iFOBT
DECALIB
Statview

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