Abstract:
BACKGROUND:It is often difficult to diagnose inflammatory bowel disease (IBD)-associated neoplasia endoscopically due to background inflammation. In addition, due to the absence of sensitive tumor biomarkers, countermeasures against IBD-associated neoplasia are crucial. The purpose of this study is to develop a new diagnostic method through the application of liquid biopsy. METHODS:Ten patients with IBD-associated cancers and high-grade dysplasia (HGD) with preserved tumor tissue and blood were included. Tumor and non-tumor tissues were analyzed for 48 cancer-related genes using next-generation sequencing. Simultaneously, circulating tumor DNA (ctDNA) was analyzed for mutations in the target genes using digital PCR. RESULTS:Out of 10 patients, seven had IBD-related cancer and three had IBD-related HGD. Two patients had carcinoma in situ; moreover, three had stageII and two had stage III. To avoid false positives, the mutation rate cutoff was set at 5% based on the control results; seven of 10 (70%) tumor tissue samples were mutation-positive. Mutation frequencies for each gene were as follows: TP53 (20.9%; R136H), TP53 (25.0%; C110W), TP53 (8.5%; H140Q), TP53 (31.1%; R150W), TP53 (12.8%; R141H), KRAS (40.0%; G12V), and PIK3CA (34.1%; R 88Q). The same mutations were detected in the blood of these seven patients. However, no mutations were detected in the blood of the remaining three patients with no tumor tissue mutations. The concordance rate between tumor tissue DNA and blood ctDNA was 100%. CONCLUSION:Blood liquid biopsy has the potential to be a new method for non-invasive diagnosis of IBD-associated neoplasia.
journal_name
BMC Cancerjournal_title
BMC cancerauthors
Kinugasa H,Hiraoka S,Nouso K,Yamamoto S,Hirai M,Terasawa H,Yasutomi E,Oka S,Ohmori M,Yamasaki Y,Inokuchi T,Takahara M,Harada K,Tanaka T,Okada Hdoi
10.1186/s12885-020-07699-zsubject
Has Abstractpub_date
2020-12-03 00:00:00pages
1188issue
1issn
1471-2407pii
10.1186/s12885-020-07699-zjournal_volume
20pub_type
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