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

IF 1.4 Q4 GASTROENTEROLOGY & HEPATOLOGY

DEN open Pub Date : 2025-05-04 DOI:10.1002/deo2.70132

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

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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

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错配修复缺陷/微卫星不稳定性高和braf突变的结直肠癌的内镜特征

目的通过对BRAF基因和错配修复（MMR）基因/微卫星不稳定性（MSI）基因的基因组分析，揭示结直肠癌（CRC）的生物多样性。braf突变的结直肠癌预后较差；然而，在最近的免疫检查点抑制剂治疗后，表现出MMR缺陷(dMMR)/ msi -高（MSI-H）和BRAF基因突变的病例显示出显著的预后改善。因此，这些亚型的诊断是重要的。本研究旨在确定dMMR/ msi高和braf突变的crc的内镜特征。方法对292例结直肠癌患者进行回顾性分析。确定临床病理结果，重点是dMMR/MSI-H和braf突变亚型。内窥镜图像分析是否存在黄色脱皮。通过组织病理学评估评估表面材料特性。结果在256例分析病例中，27例为dMMR/MSI-H CRC，其中12例为braf突变。在dMMR/MSI-H和BRAF突变的crc中，有83.3%的人出现黄脱，而dMMR/MSI-H和BRAF野生型的crc中这一比例为13.3%，pMMR/MSS和BRAF野生型的crc中这一比例为1.3%。组织学检查显示，在dMMR/ msi高和braf突变的crc中，黄痂与凝固性坏死和更厚的表面层相关。结论内镜下的黄痂可能有助于识别dMMR/MSI-H和braf突变的结直肠癌，并允许开始适当的分子检测和免疫治疗

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来源期刊

DEN open

CiteScore

1.30

自引率

0.00%

发文量