Department of Laboratory Medicine, Kangdong Sacred Heart Hospital, Seoul, Republic of Korea.
Department of Interdisciplinary Program in Cancer Biology, Seoul National University College of Medicine, Seoul, Republic of Korea.
BMC Cancer. 2023 Nov 13;23(1):1100. doi: 10.1186/s12885-023-11607-6.
Accurate determination of microsatellite instability (MSI) status is critical for optimal treatment in cancer patients. Conventional MSI markers can sometimes display subtle shifts that are difficult to interpret, especially in non-colorectal cases. We evaluated an experimental eight marker-panel including long mononucleotide repeat (LMR) markers for detection of MSI.
The eight marker-panel was comprised of five conventional markers (BAT-25, BAT-26, NR-21, NR-24, and NR-27) and three LMR markers (BAT-52, BAT-59 and BAT-62). MSI testing was performed against 300 specimens of colorectal, gastric, and endometrial cancers through PCR followed by capillary electrophoresis length analysis.
The MSI testing with eight marker-panel showed 99.3% (295/297) concordance with IHC analysis excluding 3 MMR-focal deficient cases. The sensitivity of BAT-59 and BAT-62 was higher than or comparable to that of conventional markers in gastric and endometrial cancer. The mean shift size was larger in LMR markers compared to conventional markers for gastric and endometrial cancers.
The MSI testing with eight maker-panel showed comparable performance with IHC analysis. The LMR markers, especially BAT-59 and BAT-62, showed high sensitivity and large shifts which can contribute to increased confidence in MSI classification, especially in gastric and endometrial cancers. Further study is needed with large number of samples for the validation of these LMR markers.
准确确定微卫星不稳定性 (MSI) 状态对于癌症患者的最佳治疗至关重要。传统的 MSI 标志物有时会显示出难以解释的细微变化,尤其是在非结直肠癌病例中。我们评估了一个包括长单核苷酸重复 (LMR) 标志物的实验性 8 标志物面板,用于检测 MSI。
该 8 标志物面板由 5 个常规标志物 (BAT-25、BAT-26、NR-21、NR-24 和 NR-27) 和 3 个 LMR 标志物 (BAT-52、BAT-59 和 BAT-62) 组成。通过 PCR 后毛细管电泳长度分析,对 300 例结直肠、胃和子宫内膜癌标本进行 MSI 检测。
使用 8 标志物面板进行的 MSI 检测与排除 3 例 MMR 局灶性缺陷病例的 IHC 分析具有 99.3%(295/297)的一致性。BAT-59 和 BAT-62 在胃癌和子宫内膜癌中的敏感性高于或与常规标志物相当。LMR 标志物在胃癌和子宫内膜癌中的平均移位大小大于常规标志物。
使用 8 个标志物面板进行的 MSI 检测与 IHC 分析具有相当的性能。LMR 标志物,尤其是 BAT-59 和 BAT-62,显示出较高的敏感性和较大的移位,这有助于提高 MSI 分类的信心,尤其是在胃癌和子宫内膜癌中。需要进一步研究,以大量样本验证这些 LMR 标志物。