Kazuo Hase

Increased risk for CRC in diabetic patients with the nonrisk allele of SNPs at 8q24.

BackgroundColorectal cancer (CRC) oncogenesis was considered to be determined by interactions between genetic and environmental factors. Specific interacting factors that influence CRC morbidity have yet to be fully investigated.MethodsA multi-institutional collaborative study with 1511 CRC patients and 2098 control subjects was used to compare the odds ratios for the occurrence of polymorphisms at 11 known single nucleotide polymorphisms (SNPs). TaqMan PCR and questionnaires were used to evaluate the effects of environmental exposures.ResultsVariants of rs6983267 on 8q24 were the most significant markers of risk for CRC (odds ratio 1.16, 95% confidence interval 1.06–1.27, Pxa0=xa00.0015). Non-insulin-dependent diabetes mellitus (DM), a higher body mass index at age 20, and meat consumption were environmental risk factors, whereas a tuna-rich diet and vitamin intake were protective factors. The cohort of rs6983267 SNP major (T) allele at 8q24 and DM had a 1.66-fold higher risk ratio than the cohort of major allele patients without DM.ConclusionsWe confirmed that interactions between the genetic background and environmental factors are associated with increased risk for CRC. There is a robust risk of the minor G allele at the 8q24 rs6983267 SNP; however, a major T allele SNP could more clearly reveal a correlation with CRC specifically when DM is present.

Genomic copy number of a carcinogenic single nucleotide polymorphism at 8q24 in non-risk allele colorectal cancer associated with insulin growth factor 2 receptor expression

Background and Aim:u2002 The incidence of both diabetes mellitus and hyperlipidemia is increasing and they are risk factors for colorectal cancer (CRC). On the other hand, the carcinogenic significance of the single nucleotide polymorphism (SNP), rs6983267 at 8q24, in CRC has been reported. The association between the SNP genotype and genes associated with diabetes or hyperlipidemia was investigated in cases of CRC.

Japanese genome‐wide association study identifies a significant colorectal cancer susceptibility locus at chromosome 10p14

Genome‐wide association studies are a powerful tool for searching for disease susceptibility loci. Several studies identifying single nucleotide polymorphisms (SNP) connected intimately to the onset of colorectal cancer (CRC) have been published, but there are few reports of genome‐wide association studies in Japan. To identify genetic variants that modify the risk of CRC oncogenesis, especially in the Japanese population, we performed a multi‐stage genome‐wide association study using a large number of samples: 1846 CRC cases and 2675 controls. We identified 4 SNP (rs7912831, rs4749812, rs7898455 and rs10905453) in chromosome region 10p14 associated with CRC; however, there are no coding or non‐coding genes within this region of fairly extensive linkage disequilibrium (a 500‐kb block) on 10p14. Our study revealed that the 10p14 locus is significantly correlated with susceptibility to CRC in the Japanese population, in accordance with the results of multiple studies in other races.

A Case of Esophageal Carcinoma with Hyperamylasemia after Recurrence in Postoperative Course

術後再発を契機に高アミラーゼ血症を伴い, 免疫組織学的検査にて再発部位での腫瘍細胞のアミラーゼ産生を認めた食道癌の1例を経験した.症例は49 歳の男性で, 嚥下困難と心窩部痛を主訴に来院した.精査の結果, 下部食道領域の低分化扁平上皮癌と診断し, 術前化学療法施行後, 右開胸開腹胸部食道全摘を行った.術後3か月目に右鎖骨上リンパ節転移を認めたため, 右鎖骨上リンパ節郭清を行った.術後8か月目に多発肝転移と血清アミラーゼ値が1,447U/Lと上昇を認め, 分画では唾液腺由来が優位であった.以後, 血清アミラーゼ値はさらに上昇し, 全身化学療法を行うも, 肝不全のため死亡した.抗α-amylase抗体を用いた免疫組織学的検索では, 原発巣は陰性であったが, 転移右鎖骨上リンパ節内の腫瘍細胞の胞体が明瞭に染色され, 食道癌によるアミラーゼ産生が示唆された.アミラーゼ産生食道癌の報告は過去になく, 最初の症例であると考えられた.