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遗传背景下早期结直肠癌的病理诊断的有效性。

Validity of pathological diagnosis for early colorectal cancer in genetic background.

机构信息

Department of Gastroenterology, Graduate School of Medicine, Chiba University, Chiba, Japan.

Genome Analysis Center, Yamanashi Prefectural Central Hospital, Kofu, Japan.

出版信息

Cancer Med. 2023 Apr;12(7):8490-8498. doi: 10.1002/cam4.5596. Epub 2023 Feb 3.

DOI:10.1002/cam4.5596
PMID:36734304
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10134368/
Abstract

BACKGROUND

This study aimed to investigate the validity of pathological diagnosis of early CRC (E-CRC) from the genetic background by comparing data of E-CRC to colorectal adenoma (CRA) and The Cancer Genome Atlas (TCGA) on advanced CRC (AD-CRC).

METHODS

TCGA data on AD-CRC were studied in silico, whereas by next-generation sequencer, DNA target sequences were performed for endoscopically obtained CRA and E-CRC samples. Immunohistochemical staining of mismatch repair genes and methylation of MLH1 was also performed. The presence of oncogenic mutation according to OncoKB for the genes of the Wnt, MAPK, and cell-cycle-signaling pathways was compared among CRA, E-CRC, and AD-CRC.

RESULTS

The study included 22 CRA and 30 E-CRC lesions from the Chiba University Hospital and 212 AD-CRC lesions from TCGA data. Regarding the number of lesions with driver mutations in the Wnt and cell-cycle-signaling pathways, E-CRC was comparable to AD-CRC, but was significantly greater than CRA. CRA had significantly more lesions with a driver mutation for the Wnt signaling pathway only, versus E-CRC.

CONCLUSIONS

In conclusion, the definition of E-CRC according to the Japanese criteria had a different genetic profile from CRA and was more similar to AD-CRC. Based on the main pathway, it seemed reasonable to classify E-CRC as adenocarcinoma. The pathological diagnosis of E-CRC according to Japanese definition seemed to be valid from a genetic point of view.

摘要

背景

本研究旨在通过比较早期结直肠癌（E-CRC）与结直肠腺瘤（CRA）和癌症基因组图谱（TCGA）中晚期结直肠癌（AD-CRC）的数据，从遗传背景探讨 E-CRC 病理学诊断的准确性。

方法

对 TCGA 中 AD-CRC 的数据进行了计算机分析，同时通过下一代测序仪对内镜获得的 CRA 和 E-CRC 样本进行 DNA 靶序列分析。还对错配修复基因和 MLH1 的甲基化进行了免疫组化染色。比较了 CRA、E-CRC 和 AD-CRC 中根据 OncoKB 对 Wnt、MAPK 和细胞周期信号通路基因的致癌突变的存在情况。

结果

本研究纳入了来自千叶大学医院的 22 个 CRA 和 30 个 E-CRC 病变，以及来自 TCGA 数据的 212 个 AD-CRC 病变。关于 Wnt 和细胞周期信号通路驱动突变的病变数量，E-CRC 与 AD-CRC 相当，但明显多于 CRA。只有 CRA 中存在更多的 Wnt 信号通路驱动突变病变，而 E-CRC 中则没有。

结论

总之，根据日本标准定义的 E-CRC 具有与 CRA 不同的遗传特征，与 AD-CRC 更为相似。基于主要途径，将 E-CRC 归类为腺癌是合理的。从遗传角度来看，根据日本定义对 E-CRC 进行的病理诊断似乎是有效的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd89/10134368/efb5cdc45ce0/CAM4-12-8490-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd89/10134368/157e3406e68f/CAM4-12-8490-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd89/10134368/5433e8f6817c/CAM4-12-8490-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd89/10134368/efb5cdc45ce0/CAM4-12-8490-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd89/10134368/157e3406e68f/CAM4-12-8490-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd89/10134368/5433e8f6817c/CAM4-12-8490-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd89/10134368/efb5cdc45ce0/CAM4-12-8490-g003.jpg

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Molecular subtype switching in early-stage gastric cancers with multiple occurrences.早期多发胃癌的分子亚型转换。
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