Характеристика перестроек 11q23 (MLL) у детей первого года жизни с острым лимфобластным лейкозом

Целью данной работы являлась характеристика перестроек 11q23 (MLL) у детей первого года жизни с острым лимфобластным лейкозом (ОЛЛ), включая частоту их выявления, взаимосвязь с различными иммунологическими вариантами ОЛЛ, а также определение структуры химерных транскриптов у пациентов исследуемой группы. Для этого нами обследовано 117 пациентов с ОЛЛ без синдрома Дауна в возрасте от 1 до 365 дней. Перестройки 11q23 (MLL) были выявлены у 74 (63,2 %) пациентов. В этой группе преобладала транслокация t(4;11)(q21; q23)/MLL-AF4 — 63,5 % случаев, реже встречались t(11;19)(q23; p13)/MLL-MLLT1 — 18,9 % случаев, t(10;11)(p12; q23)/MLL-MLLT10 и t(1;11)(p32; q23)/MLL-EPS15 — по 6,8 % случаев; t(9;11)(p22; q23)/MLLMLLT3 — в 2,7 %. У пациентов младше 6 мес перестройки 11q23 (ML L) были выявлены достоверно чаще, чем у пациентов в возрасте 6–12 мес — 84,0 % и 47,8 % случаев соответственно (р < 0,001). BI-вариант ОЛЛ статистически значимо чаще, а BII-ОЛЛ значительно реже встречались у пациентов с наличием аномалий 11q23 (MLL) по сравнению с теми, у кого эти транслокации не были выявлены (p < 0,001 в обоих случаях). У 26 пациентов с различными перестройками гена ML L было проведено определение структуры химерного транскрипта. В зависимости от локализации точки слияния в гене ML L и генах-партнерах выявлено 7 вариантов химерного транскрипта MLL-AF4, 3 варианта MLL-MLLT1, 2 варианта MLL-EPS15. В 14 (53,8 %) случаях точка слияния располагалась в 11-м экзоне гена MLL.

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