OncohematologyOncohematologyОнкогематология1818-83462413-4023Publishing House ABV Press74110.17650/1818-8346-2009-0-2-57-60BIOLOGY OF HEMATOLOGIC MALIGNANCIESБИОЛОГИЯ ГЕМОБЛАСТОЗОВSevere congenital neutropenia: pathophysiology of leukemogenic transformationТяжелая врожденная нейтропения: патофизиология лейкемоидной трансформацииSkokowaJ.СкоковаЮ.
Germany

Hannover

Юлия Скокова

Ганновер

Skokova.Julia@mh-hannover.deWelteK.ВельтеК.
Germany

Hannover

Ганновер

Department of Molecular Hematology, Hannover Medical SchoolОтдел молекулярной гематологии Высшей медицинской школы (перевод Ю. В. Румянцевой, ФГУ Федеральный научно-клинический центр детской гематологии, онкологии и иммунологии, Москва)2705200925760251120222009https://oncohematology.abvpress.ru/ongm/article/view/741

Severe congenital neutropenia (CN) is a heterogeneous disorder of hematopoiesis characterized by a maturation arrest of granulopoiesis at the level of promyelocytes with peripheral blood absolute neutrophil counts (ANC) below <0,5×10 9/L. In this review we summarize our current knowledge on pathophysiolgy of AML in CN patients.

There are two major subtypes of CN as judged by inheritance, 1) autosomal dominant trait defined by ELA2 mutations consisting 60% of patients and 2) autosomal recessive trait comprising approximately 30% of patients. CN is considered as a pre-leukemic syndrome, since after ten years of observation the cumulative incidence of acute leukemia is 21%. Acquired G-CSFR mutations are detected in approx. 80% of CN patients who developed AML. CN patients with acquired G-CSFR mutations define a group with high risk for development of leukemia.

Тяжелая врожденная нейтропения (ВН) – это гетерогенная патология гемопоэза, характеризующаяся прекращением созревания гранулоцитов на стадии промиелоцитов с абсолютным количеством нейтрофилов в периферической крови (ANC) <0,5×10 9/л. В обзоре суммированы имеющиеся в настоящий момент сведения о патофизиологии развития острой миелобластной лейкемии (ОМЛ) у пациентов с ВН.

По типу наследования ВН делится на два подтипа: 1) с аутосомно-доминантным наследованием, связанный с мутациями ELA2, наблюдающийся у 60% пациентов и 2) с аутосомно-рецессивным наследованием, встречающийся приблизительно у 30% пациентов. ВН рассматривается как прелейкемический синдром, так как через 10 лет наблюдения кумулятивный риск развития лейкемии составляет 21%. Приобретенные мутации рецептора гранулоцитарного колониестимулирующего фактора (Г-КСФР) обнаружены приблизительно у 80% больных ВН с развившимся ОМЛ. Пациенты с ВН с приобретенными мутациями Г-КСФР составляют группу высокого риска развития лейкемии.

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