Liquid biopsy for patients with IBD-associated neoplasia
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RESEARCH ARTICLE
Open Access
Liquid biopsy for patients with IBDassociated neoplasia Hideaki Kinugasa1*, Sakiko Hiraoka1, Kazuhiro Nouso1, Shumpei Yamamoto1, Mami Hirai1, Hiroyuki Terasawa1, Eriko Yasutomi1, Shohei Oka1, Masayasu Ohmori1, Yasushi Yamasaki1, Toshihiro Inokuchi1, Masahiro Takahara1, Keita Harada1, Takehiro Tanaka2 and Hiroyuki Okada1
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 nextgeneration 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. Keywords: IBD-associated neoplasia, IBD-associated cancer, Liquid biopsy, ctDNA
Background It is widely accepted that cancers occur in patients suffering from IBD and these cancers are distinguished from sporadic colorectal cancers as IBD-associated cancers. Eaden et al. [1] reported the incidence rates of * Correspondence: [email protected] 1 Department of Gastroenterology and Hepatology, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, 2-5-1 Shikata-cho, Kita-ku, Okayama 700-8558, Japan Full list of author information is available at the end of the article
IBD-associated cancers as 2.1%/10 years, 8.5%/20 years, and 17.8%/30 years, while Rutter et al. [2] reported the incidence rates as 2.5%/20 years, 7.6%/30 years, and 10.8%/40 years. Although there is a slight variation in the rates of IBD-associated cancers from several reports [3], it is still a challenge to prevent IBD-associated cancers in patients suffering from IBD. The functionality of colonoscopy as a surveillance method for the detection of IBD
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