Abstract
Microsatellite instability (MSI) characterizes a special molecular genetic subtype of malignancies and is associated with the deficiency of mismatched DNA repair. There are no reliable data on the frequency of MSI in colorectal neuroendocrine neoplasms due to the relative rarity of this cancer type. The prognostic significance of MSI is debatable. The aim of this study was to investigate the frequency of the MSI phenotype among colorectal neuroendocrine neoplasms (NENs) with different primary location, grade and stage. Twenty-nine patients (15 men and 14 women, mean age: 62.5 years) included in the study underwent surgery for colorectal neuroendocrine tumors between 2015 and 2018. The mean follow-up period was 3.8 years. Colorectal NENs were grouped by primary location and stage. The majority of the patients (52%) had stage III cancer at diagnosis. The microsatellite stability (MSS) phenotype was confirmed in 24 patients (83%), whereas the MSI phenotype was observed in 5 patients (17%). All MSI-positive tumors were stage I well-differentiated grade G1 or G2 neuroendocrine tumors (NETs) of the rectum. Overall survival was 50% for patients with stage II MSS-positive NENs of the colon and rectum, 33% for stage III and 0% for stage IV. For patients with stage I MSI-positive NENs of the rectum, overall survival was 100%. Thus, the frequency of MSI-positive colorectal NENs was estimated.
Highlights
Microsatellite instability (MSI) characterizes a special molecular genetic subtype of malignancies and is associated with the deficiency of mismatched DNA repair
The MSI status was correlated to the presence of mutations in the BRAF gene [6]. These findings show that the MSI-status of the tumor is associated with a specific set of its molecular characteristics, which, in our opinion, may hold promise for future research
Colorectal neuroendocrine neoplasms (NENs) were grouped by primary location
Summary
Microsatellite instability (MSI) characterizes a special molecular genetic subtype of malignancies and is associated with the deficiency of mismatched DNA repair. The aim of this study was to investigate the frequency of the MSI phenotype among colorectal neuroendocrine neoplasms (NENs) with different primary location, grade and stage. Overall survival was 50% for patients with stage II MSS-positive NENs of the colon and rectum, 33% for stage III and 0% for stage IV. For patients with stage I MSI-positive NENs of the rectum, overall survival was 100%. Целью исследования было изучение частоты встречаемости MSI в нейроэндокринных новообразованиях (НЭН) толстой кишки в зависимости от локализации, степени дифференцировки опухоли и стадии заболевания. Общая выживаемость пациентов с MSS-позитивными НЭН толстой кишки составила на II стадии 50%, на III — 33%, на IV стадии — 0%. Общая выживаемость пациентов с MSI-позитивными НЭН прямой кишки на I стадии составила 100%. Н. Тимошкина — анализ и интерпретация полученных данных, написание текста статьи; А. Соблюдение этических стандартов: исследование одобрено этическим комитетом НМИЦ онкологии (протокол No 3 от 09 февраля 2021 г.); все участники подписали информированное согласие на участие в исследовании
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