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Abstract：
Determination of microsatellite instability (MSI)/mismatch repair (MMR) status in cancer has several clinical implications. Our aim was to integrate MSI/MMR status from patients tested in Greece to assess the prevalence of MSI-high (MSI-H)/deficient MMR (dMMR) per tumor type, testing patterns over time and concordance between MSI and MMR status. We retrospectively recorded MSI/MMR testing data of patients with diverse tumor types performed in pathology and molecular diagnostics laboratories across Greece. Overall, 18 of 22 pathology and/or molecular diagnostics laboratories accepted our invitation to participate. In the 18 laboratories located across the country, 7916 tumor samples were evaluated for MSI/MMR status. MSI/MMR testing significantly increased in patients with colorectal cancer (CRC) and other tumor types overtime (p < 0.05). The highest prevalence was reported in endometrial cancer (47 of 225 patients, 20.9%). MSI-H/dMMR was observed in most tumor types, even in low proportions. Among 904 tumors assessed both for MSI and MMR status, 21 had discordant results (overall discordance rate, 2.3%). We reported MSI-H/dMMR prevalence rates in patients with diverse cancers, while demonstrating increasing referral patterns from medical oncologists in the country overtime. The anticipated high rate of concordance between MSI and MMR status in paired analysis was confirmed.
摘要：
癌症中微卫星不稳定性（MSI）/错配修复（MMR）状态的确定具有多种临床意义。我们的目标是整合在希腊接受测试的患者的MSI/MMR状态，以评估每种肿瘤类型的MSI高（MSI-H）/缺陷MMR（dMMR）的患病率。随时间的测试模式以及MSI和MMR状态之间的一致性。我们回顾性记录了在希腊的病理和分子诊断实验室进行的不同肿瘤类型患者的MSI/MMR测试数据。总的来说,22个病理和/或分子诊断实验室中有18个接受了我们的邀请。在全国各地的18个实验室中，评估7916个肿瘤样品的MSI/MMR状态。MSI/MMR检测在结直肠癌（CRC）和其他肿瘤类型患者中的时间显着增加（p<0.05）。据报道，子宫内膜癌的患病率最高（225例患者中有47例，20.9%）。在大多数肿瘤类型中观察到MSI-H/dMMR，即使比例很低。在评估MSI和MMR状态的904个肿瘤中，21例结果不一致(总体不一致率，2.3%）。我们报道了不同癌症患者的MSI-H/dMMR患病率，同时证明了该国医学肿瘤学家加班的转诊模式越来越多。证实了配对分析中MSI和MMR状态之间预期的高一致性。
