Наследственные синдромы, ассоциированные с полипами и развитием злокачественных опухолей у детей

T.P. Kazubskaya, N.F. Belev, V.M. Kozlova, R.I. Tamrazov, M.G. Filippova, V.D. Ermilova, E.I. Тrofimov, T.T. Kondrat'eva

Аннотация


В статье представлена характеристика генетически обусловленных аденоматозно- и гамартомно-полипозных наследственных синдромов (семейного аденоматозного полипоза, Гарднера, Туркота, Пейтца–Егерса) и широкий спектр их проявлений у детей. Современные данные молекулярного патогенеза синдромов указывают на то, что каждый из них имеет свою генетическую основу. Приведены сведения о фенотип-генотип корреляции, которая может служить ориентиром не только варианта проявления заболевания, но и возможной его тяжести; представлены данные по оценке риска развития злокачественных опухолей и их локализаций у носителей синдромов в разном возрасте. Для своевременного распознавания патологии и лучшего прогноза для таких пациентов необходим объединенный подход педиатров, проктологов, онкологов, морфологов, генетиков и молекулярных биологов.

(Для цитирования: Казубская Т.П., Белев Н.Ф., Козлова В.М., Тамразов Р.И., Филиппова М.Г., Ермилова В.Д., Трофимов Е.И., Кондратьева Т.Т. Наследственные синдромы, ассоциированные с полипами и развитием злокачественных опухолей у детей. Онкопедиатрия. 2015;2(4):384–395.
Doi: 10.15690/onco.v2.i4.1465)


Ключевые слова


синдром семейного аденоматозного полипоза; синдром Пейтца–Егерса; гены АРС и STK11; неоплазии разных локализаций

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Литература


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DOI: http://dx.doi.org/10.15690/onco.v2.i4.1465

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