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错配修复缺陷/微卫星高度不稳定及BRAF突变型结直肠癌的内镜特征

Endoscopic features of deficient mismatch repair/microsatellite instability-high and BRAF-mutated colorectal cancer.

作者信息

Omote Rika, Omote Shizuma, Sumii Ryohei, Horii Joichiro, Fujita Isao, Miyaso Hideaki, Toyokawa Tatsuya, Inagaki Masaru

机构信息

Department of Diagnostic Pathology NHO Fukuyama Medical Center Hiroshima Japan.

Department of Internal Medicine Fukuyama Minami Hospital Hiroshima Japan.

出版信息

DEN Open. 2025 May 4;6(1):e70132. doi: 10.1002/deo2.70132. eCollection 2026 Apr.

DOI:10.1002/deo2.70132
PMID:40548293
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12180479/
Abstract

OBJECTIVE

Recent advancements in genome analyses, including the BRAF gene and mismatch repair (MMR) gene/microsatellite instability (MSI), have revealed the biological diversity of colorectal cancer (CRC). BRAF-mutated CRC has a poor prognosis; however, cases exhibiting deficient MMR (dMMR)/MSI-high (MSI-H) and BRAF gene mutations have demonstrated significant prognostic improvement following recent immune checkpoint inhibitor therapy. Therefore, the diagnosis of these subtypes is important. This study aimed to identify the endoscopic features of dMMR/MSI-high and BRAF-mutated CRCs.

METHODS

A retrospective analysis was conducted on 292 CRC cases. Clinicopathological findings, focusing on dMMR/MSI-H and BRAF-mutated subtypes, were determined. Endoscopic images were analyzed for the presence of yellow slough. Surface material characteristics were assessed through a histopathological evaluation.

RESULTS

Of the 256 cases analyzed, 27 were dMMR/MSI-H CRC, including 12 BRAF-mutant cases. Yellow slough was observed in 83.3% of dMMR/MSI-H and BRAF-mutated CRCs, compared with 13.3% dMMR/MSI-H and BRAF wild-type CRCs and 1.3% pMMR/MSS and BRAF wild-type CRCs. Histological examination showed a correlation of yellow slough with coagulative necrosis and thicker surface layers in dMMR/MSI-high and BRAF-mutated CRCs.

CONCLUSION

Yellow slough on endoscopy may help identify dMMR/MSI-H- and BRAF-mutated CRC and allow the initiation of appropriate molecular testing and immunotherapy.

摘要

目的

包括BRAF基因和错配修复（MMR）基因/微卫星不稳定性（MSI）在内的基因组分析的最新进展揭示了结直肠癌（CRC）的生物学多样性。BRAF突变的CRC预后较差；然而，显示错配修复缺陷（dMMR）/微卫星高度不稳定（MSI-H）且BRAF基因突变的病例在近期免疫检查点抑制剂治疗后预后有显著改善。因此，这些亚型的诊断很重要。本研究旨在确定dMMR/MSI-H和BRAF突变的CRC的内镜特征。

方法

对292例CRC病例进行回顾性分析。确定临床病理特征，重点关注dMMR/MSI-H和BRAF突变亚型。分析内镜图像中是否存在黄色痂皮。通过组织病理学评估来评估表面物质特征。

结果

在分析的256例病例中，27例为dMMR/MSI-H CRC，其中12例为BRAF突变病例。在dMMR/MSI-H且BRAF突变的CRC中，83.3%观察到黄色痂皮，相比之下，dMMR/MSI-H且BRAF野生型的CRC中为13.3%，错配修复功能正常（pMMR）/微卫星稳定（MSS）且BRAF野生型的CRC中为1.3%。组织学检查显示，dMMR/MSI-H且BRAF突变的CRC中，黄色痂皮与凝固性坏死及较厚的表层相关。

结论

内镜检查时出现的黄色痂皮可能有助于识别dMMR/MSI-H和BRAF突变的CRC，并有助于启动适当的分子检测和免疫治疗。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/287dad672381/DEO2-6-e70132-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/06fa56b8f1f8/DEO2-6-e70132-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/fedd9ed5b668/DEO2-6-e70132-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/f1658040f73e/DEO2-6-e70132-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/0978eb81248f/DEO2-6-e70132-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/ab14caec2253/DEO2-6-e70132-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/2989258d30a2/DEO2-6-e70132-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/287dad672381/DEO2-6-e70132-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/06fa56b8f1f8/DEO2-6-e70132-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/fedd9ed5b668/DEO2-6-e70132-g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/f1658040f73e/DEO2-6-e70132-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/0978eb81248f/DEO2-6-e70132-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/ab14caec2253/DEO2-6-e70132-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/2989258d30a2/DEO2-6-e70132-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3a29/12180479/287dad672381/DEO2-6-e70132-g003.jpg

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