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Genomic analysis for the prediction of prognosis in small-bowel cancer

壷井章克広島大学

2021.03.23

概要

Although the small-bowel constitutes three-quarters of the entire digestive tract, small-bowel
cancer is rare compared to other gastrointestinal cancers. Small-bowel cancers have been
reported to account for only approximately 3% of all gastrointestinal tract tumors [1]. However, the incidence of small-bowel cancer has increased in Western countries over the past several decades [2].
Raghav et al. [3] reported that compared to those with colorectal cancer (CRC), patients
with small-bowel cancer are younger, and a higher proportion of men than women are affected
by this condition. The risk factors of small-bowel cancer are unclear; however, predisposing
factors are known to include hereditary syndromes such as familial adenomatous polyposis
(FAP), Peutz-Jeghers syndrome (PJS), Lynch syndrome (LS), and inflammatory bowel diseases
(IBDs) such as Crohn’s disease and celiac disease, and obesity.
Although FAP, LS, Crohn’s disease, and celiac disease are the predisposing factors of smallbowel cancer in the USA and Europe, a recent Japanese multicenter study reported these factors as not associated with the development of small-bowel cancer [4]. The prevalence of celiac
disease in Caucasians is as high as 1% of the population, and it has been increasing [5]. Fukunaga et al. [6] reported the prevalence of celiac disease being 0.05% in a non-patient Japanese
population. Therefore, the prevalence of small-bowel cancer associated with celiac disease is
considered to be lower in Japan than that in the Western countries. Moreover, in a previous
report on racial disparity with respect to gastrointestinal cancer, the incidence of small-bowel
cancer was reported to vary among different races [7]. If race affects carcinogenic risk, then
genomic variants may exist among different races.
Exploring the genetic landscape of cancers of various organs has recently become feasible
with the growing availability of next-generation sequencing (NGS), regardless of the stage of
cancer [8–10]. Several reports have been published on the genomic landscape of small-bowel
cancer [11–15]. However, disease structure is different between Caucasian and Japanese populations. For example, background factors such as the frequency of celiac disease, Crohn’s disease, and obesity are different between Japan and Western countries. The frequency of obesity
varies across countries. According to World Health Organization (2016), a 20–40% frequency
of body mass index (BMI) >30 was reported in Western countries, whereas a 4.4% frequency
of BMI >30 was reported in Japan; this scenario is explained by Japanese people tending to
consume diets low in fat, sugar and fructose. These factors for small-bowel cancer are likely to
be impacted by genomic variants. For the development of novel therapeutic agents, it is necessary to clarify the characterization of clinicopathological features and genomic variants associated with carcinogenesis of small-bowel cancer. In this study, we aimed to clarify the genomic
landscape for small-bowel cancer and association between clinicopathological features and
genomic variants in the Japanese population. Our study revealed the MMR status and genetic
variants of small-bowel cancer in a Japanese population. ...

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Genomic analysis for the prediction of prognosis in small-bowel cancer

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