Молекулярно-генетические особенности и маркеры гастроинтестинальных стромальных опухолей
https://doi.org/10.17650/2313-805X.2015.2.2.29-40
Аннотация
Гастроинтестинальные стромальные опухоли (ГИСО) – наиболее распространенная группа мезенхимальных опухолей желудочно-кишечного тракта, которые имеют особые клинико-морфологические, иммуногистохимические и молекулярные характеристики. Отличительной чертой ГИСО является наличие поверхностного антигена CD117 (рецептора KIT), выявляемого c помощью иммуногистохимического метода. ГИСО представляют гетерогенную группу опухолей, содержащих активирующие мутации в генах KIT (75–80 %) и PDGFRA (5–15 %), кодирующих рецепторные тирозинкиназы (ТК). Многочисленные мутации коррелируют со специфической морфологией ГИСО, гистологическим фенотипом, метастазированием и прогнозом. В 10–15 % ГИСО имеются гены KIT и PDGFRA дикого типа, некоторые содержат активирующие мутации BRAF, IGF1R или PIK3CA. Другие пациенты с ГИСО дикого типа имеют наследственные синдромы (нейрофиброматоз 1-го типа, синдром Карнея–Стратакиса или триаду Карнея) и содержат герминальные мутации в гене NF1 либо SDHA, SDHB, SDHC и SDHD, кодирующих субъединицы комплекса сукцинатдегидрогеназы. ГИСО – первая и наиболее изученная модель для отработки принципов и методов индивидуализированной таргетной терапии солидных опухолей ингибиторами ТК
Об авторах
Наталья Николаевна Мазуренко
ФГБНУ «РОНЦ им. Н. Н. Блохина»
Россия
НИИ канцерогенеза, Россия, 115478, Москва, Каширское шоссе, 24
Россия
НИИ канцерогенеза, Россия, 115478, Москва, Каширское шоссе, 24
И. В. Цыганова
ФГБНУ «РОНЦ им. Н. Н. Блохина»
Россия
НИИ канцерогенеза, Россия, 115478, Москва, Каширское шоссе, 24
Россия
НИИ канцерогенеза, Россия, 115478, Москва, Каширское шоссе, 24
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Рецензия
Для цитирования:
Мазуренко Н.Н., Цыганова И.В. Молекулярно-генетические особенности и маркеры гастроинтестинальных стромальных опухолей. Успехи молекулярной онкологии. 2015;2(2):29-40. https://doi.org/10.17650/2313-805X.2015.2.2.29-40
For citation:
Mazurenko N.N., Tsyganova I.М. Molecular features and genetic markers of gastrointestinal stromal tumors. Advances in Molecular Oncology. 2015;2(2):29-40. (In Russ.) https://doi.org/10.17650/2313-805X.2015.2.2.29-40
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