Fountzilas Elena, Papadopoulos Theofanis, Papadopoulou Eirini, Gouedard Cedric, Kourea Helen P, Constantoulakis Pantelis, Magkou Christina, Sfakianaki Maria, Kotoula Vassiliki, Bantouna Dimitra, Raptou Georgia, Saetta Angelica A, Christopoulou Georgia, Hatzibougias Dimitris, Michalopoulou-Manoloutsiou Electra, Siatra Eleni, Eleftheriadis Eleftherios, Kavoura Evangelia, Kaklamanis Loukas, Sourla Antigoni, Papaxoinis George, Pavlakis Kitty, Hytiroglou Prodromos, Vourlakou Christina, Arapantoni-Dadioti Petroula, Murray Samuel, Nasioulas George, Timologos Grigorios, Fountzilas George, Saridaki Zacharenia
Department of Medical Oncology, St. Lukes's Clinic, 55236 Thessaloniki, Greece.
Medical Oncology, European University Cyprus, 2404 Nicosia, Cyprus.
Diagnostics (Basel). 2024 May 22;14(11):1076. doi: 10.3390/diagnostics14111076.
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 ( < 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.
确定癌症中的微卫星不稳定性（MSI）/错配修复（MMR）状态具有若干临床意义。我们的目的是整合在希腊接受检测的患者的MSI/MMR状态，以评估每种肿瘤类型中微卫星高度不稳定（MSI-H）/错配修复缺陷（dMMR）的患病率、随时间的检测模式以及MSI和MMR状态之间的一致性。我们回顾性记录了希腊各地病理和分子诊断实验室对不同肿瘤类型患者进行的MSI/MMR检测数据。总体而言，22家病理和/或分子诊断实验室中有18家接受了我们的参与邀请。在遍布全国的18家实验室中，对7916份肿瘤样本进行了MSI/MMR状态评估。随着时间的推移，结直肠癌（CRC）和其他肿瘤类型患者的MSI/MMR检测显著增加（<0.05）。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都观察到了MSI-H/dMMR，即使比例较低。在904份同时评估了MSI和MMR状态的肿瘤中，有21份结果不一致（总体不一致率为2.3%）。我们报告了不同癌症患者的MSI-H/dMMR患病率，同时表明该国肿瘤内科医生的转诊模式随时间增加。配对分析中MSI和MMR状态之间预期的高一致性得到了证实。
