Clinical Hospital 2, MEDSI, Moscow, 119071, Russia.
OncoAtlas LLC, Moscow, 119049, Russia.
Immunotherapy. 2024;16(13):853-858. doi: 10.1080/1750743X.2024.2376516. Epub 2024 Jul 23.
Microsatellite instability (MSI) is an important biomarker in cancer. While routine methods can detect MSI in certain tumor types, in other tumor types the results may be incorrect due to differences in the MSI loci pattern. Here, we report the case of a patient with pancreatic adenocarcinoma, with confirmed MSI by two independent next-generation sequencing tests, but not by routine methods, who had progression on pembrolizumab. Comparison of the patient's MSI loci patterns with MSI+ colorectal adenocarcinoma samples showed a lower fraction of unstable loci, low resolution of a second peak in the repeat length spectrum of unstable short tandem repeats in the patient's sample, and a lower length of indels (3.7 vs 4.5 base pairs, < 0.01).
微卫星不稳定性(MSI)是癌症的一个重要生物标志物。虽然常规方法可以检测某些肿瘤类型中的 MSI,但在其他肿瘤类型中,由于 MSI 基因座模式的差异,结果可能不正确。在这里,我们报告了一例胰腺腺癌患者的病例,该患者通过两种独立的下一代测序试验证实存在 MSI,但常规方法检测不到,并且对 pembrolizumab 治疗有进展。将患者的 MSI 基因座模式与 MSI+结直肠腺癌样本进行比较,结果显示不稳定基因座的比例较低,患者样本中不稳定短串联重复序列重复长度谱中的第二个峰分辨率较低,插入缺失的长度也较低(3.7 对 4.5 个碱基对,<0.01)。