Yamamoto Noriko, Urabe Yuji, Nakahara Hikaru, Nakamura Takeo, Shimizu Daisuke, Konishi Hirona, Ishibashi Kazuki, Ariyoshi Misa, Miyamoto Ryo, Mizuno Junichi, Takasago Takeshi, Ishikawa Akira, Tsuboi Akiyoshi, Tanaka Hidenori, Yamashita Ken, Hiyama Yuichi, Kishida Yoshihiro, Takigawa Hidehiko, Kuwai Toshio, Arihiro Koji, Shimamoto Fumio, Oka Shiro
Department of Gastroenterology, Hiroshima University Hospital, Hiroshima 734-8551, Japan.
Department of Clinical and Molecular Genetics, Hiroshima University Hospital, Hiroshima 734-8551, Japan.
Cancers (Basel). 2024 Sep 26;16(19):3271. doi: 10.3390/cancers16193271.
BACKGROUND/OBJECTIVES: Colorectal neoplasia developing from ulcerative colitis mucosa (CRNUC) can be divided into ulcerative colitis-associated neoplasia (UCAN) and non-UCAN; however, it is often difficult to distinguish UCAN from non-UCAN during a biopsy diagnosis. We investigated whether a genomic analysis could improve the diagnostic accuracy of UCAN using biopsy specimens.
In step 1, 14 CRNUCs were used to examine whether the genomic landscape of biopsy and resection specimens matched. In step 2, we investigated the relationship between the genomic landscapes and the pathological diagnosis of 26 CRNUCs. The cancer genome was analyzed by deep sequencing using a custom panel of 27 genes found to be mutated in our previous CRNUC analysis.
In step 1, of the 27 candidate genes, 14 were mutated. The concordance rate of the pathogenic mutations in these 14 genes between the biopsy and resection specimens was 29% (4/14), while that of the pathogenic mutations in and was 79% (11/14). In step 2, the pathological diagnosis of biopsy specimens using only hematoxylin and eosin (HE) staining had a sensitivity of 33% and an accuracy of 38% for UCAN diagnosis. On the other hand, the combination of the HE pathology and p53 immunohistochemical staining had a sensitivity of 73% and an accuracy of 85% for UCAN diagnosis, while the combination of HE staining and a mutation had a sensitivity of 87% and an accuracy of 88% for UCAN diagnosis.
An evaluation of mutations in biopsy specimens may be useful for diagnosing UCAN. However, further studies with larger sample sizes are required before this can be applied in clinical practice.
背景/目的：由溃疡性结肠炎黏膜发展而来的结直肠肿瘤（CRNUC）可分为溃疡性结肠炎相关肿瘤（UCAN）和非UCAN；然而，在活检诊断过程中，往往难以区分UCAN和非UCAN。我们研究了基因组分析是否能提高使用活检标本诊断UCAN的准确性。
在第一步中，使用14个CRNUC来检查活检标本和切除标本的基因组图谱是否匹配。在第二步中，我们研究了26个CRNUC的基因组图谱与病理诊断之间的关系。使用在我们之前的CRNUC分析中发现发生突变的27个基因的定制面板，通过深度测序分析癌症基因组。
在第一步中，27个候选基因中有14个发生了突变。活检标本和切除标本中这14个基因的致病突变一致率为29%（4/14），而 和 的致病突变一致率为79%（11/14）。在第二步中，仅使用苏木精和伊红（HE）染色的活检标本对UCAN诊断的敏感性为33%，准确性为38%。另一方面，HE病理与p53免疫组化染色相结合对UCAN诊断的敏感性为73%，准确性为85%，而HE染色与 突变相结合对UCAN诊断的敏感性为87%，准确性为88%。
评估活检标本中的 突变可能有助于诊断UCAN。然而，在将其应用于临床实践之前，需要进行更大样本量的进一步研究。
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