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Аннотация
Результаты молекулярно-генетических исследований позволили приблизиться к пониманию патогенеза рабдомиосарком (РМС), их включение в стандартное тестирование установило новые диагностические критерии для данного вида опухолей. Помимо своей важной роли в диагностике, генетическое тестирование стало необходимым для выбора интенсивности терапии и оценки прогноза у пациентов с РМС. Наиболее значимым диагностическим исследованием является определение химерных генов PAX3/7::FOXO1 — маркеров альвеолярной РМС (АРМС) и предикторов неблагоприятного прогноза, которое стало широко использоваться для классификации РМС и является основанием для стратификации пациентов в группу высокого риска. АРМС без выявленных перестроек с участием генов PAX3/7 или FOXO1 (в т. ч. и с нестандартными генами-партнерами) в настоящее время рассматривается как прогностически более благоприятная форма РМС, близкая с точки зрения молекулярной биологии к эмбриональной РМС (ЭРМС). Стандартная диагностика данных опухолей в настоящее время включает морфологическое, иммуногистохимическое и молекулярное исследования. Во многих случаях рутинная окраска гематоксилином и эозином и характер экспрессии Desmin, MyoD1 и Myogenin достаточны как для подтверждения диагноза РМС, так и для определения гистологического типа. При этом только определение химерных генов PAX3/7::FOXO1 позволяет однозначно определить АРМС, особенно при солидном гистологическом варианте. Гистологически однородная группа веретеноклеточных/склерозирующих РМС (ВСРМС) характеризуется очень высокой биологической и клинической гетерогенностью, обусловленной большим количеством прогностически значимых генетических вариантов. Ведущая роль в дифференциальной диагностике ВСРМС принадлежит молекулярно-генетическим методам исследования.
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