bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.35754/0234-5730-2024-69-1-104-111bloodjour-520Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCASE REPORTSОстрый мегакариоцитарный лейкоз с приобретенной трисомией 21 и структурными хромосомными перестройками у ребенка раннего возрастаAcute megakaryocytic leukemia with acquired trisomy 21 and structural chromosomal rearrangements in a young childhttps://orcid.org/0000-0003-2345-100XАссесороваЮ. Ю.AssesorovaYu. Yu.

Ассесорова Юлиана Юрьевна, кандидат биологических наук, врач-лаборант лаборатории молекулярной генетики и цитогенетики

Ташкент

Yuliana Yu. Assesorova, Cand. Sci. (Biol.), laboratory doctor, Molecular Genetics and Cytogenetics Lab

Tashkent

yuliana-as@mail.ruhttps://orcid.org/0009-0006-6259-7297ИсламовМ. С.IslamovM. S.

Исламов Миралишер Садриддинович, доктор медицинских наук, директор

Ташкент

Miralisher S. Islamov, Dr. Sci. (Med.), director 

Tashkent

miralisher.islamov@gmail.ruhttps://orcid.org/0000-0001-9894-2554МустафинаЛ. К.MustafinaL. K.

Мустафина Лия Камилевна, врач-лаборант лаборатории молекулярной генетики и цитогенетики

Ташкент

Liya K. Mustafina, laboratory doctor, Molecular Genetics and Cytogenetics Lab

Tashkent

mustafinaliya73@gmail.comhttps://orcid.org/0009-0002-7800-4522КлевлееваА. Р.KlevleevaA. R.

Клевлеева Альбина Рустамовна, врач детского гематологического отделения

Ташкент

Albina R. Klevleeva, physician

Tashkent

gema112687@mail.ruРеспубликанский специализированный научно-практический медицинский центр гематологии Министерства здравоохранения Республики УзбекистанУзбекистанRepublican Specialized Scientific and Practical Medical Center of Hematology of the Ministry of Health of the Republic of UzbekistanUzbekistanЦентр детской гематологии, онкологии и клинической иммунологии Министерства здравоохранения Республики УзбекистанУзбекистанPediatric Hematology Department of the Center for Pediatric Hematology, Oncology and Clinical Immunology of the Ministry of Health of the Republic of UzbekistanUzbekistan202419032024691104111Copyright © Ассесорова Ю.Ю., Исламов М.С., Мустафина Л.К., Клевлеева А.Р., 20242024Ассесорова Ю.Ю., Исламов М.С., Мустафина Л.К., Клевлеева А.Р.Assesorova Y.Y., Islamov M.S., Mustafina L.K., Klevleeva A.R.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.htjournal.ru/jour/article/view/520Введение

Введение. Выделяют две основные подгруппы острого мегакариоцитарного лейкоза (ОМКЛ): с синдромом Дауна (СД) и без СД. ОМКЛ у детей без СД — редкое заболевание, которое часто ассоциируется с перестройками генов NUP98, KMT2A (MLL), спорадическими транслокациями, идентифицируемыми и как единственные аномалии, и в составе комплексного кариотипа, ранним началом заболевания и крайне неблагоприятным клиническим исходом. Цель: представить клиническое наблюдение ОМКЛ у девочки без СД с приобретенной трисомией 21, der(5)t(1;5) (q23-25;q35) и t(3;8)(q21;q24).

Основные сведения

Основные сведения. У больной в возрасте 1 год 5 месяцев был диагностирован ОМКЛ без СД, сопровождавшийся гепатоспленомегалией, лимфаденопатией, с быстро прогрессирующим течением и отсутствием ответа на химиотерапию. При стандартном цитогенетическом исследовании выявили приобретенную трисомию 21, а также клональные вторичные хромосомные перестройки — der(5)t(1;5)(q23-25;q35) и t(3;8)(q21;q24). Выявленные структурные аберрации до настоящего времени не описаны у детей, больных ОМКЛ. Представленное наблюдение свидетельствует, что der(5)t(1;5)(q23-25;q35) и t(3;8)(q21;q24) в сочетании с приобретенной трисомией 21 у детей раннего возраста, больных ОМКЛ, могут быть факторами плохого прогноза.

Introduction

Introduction. There are two main subgroups of acute megakaryocytic leukemia (AMKL): with and without Down syndrome (DS). In children, AMKL without DS is a rare disease that is often associated with a rearrangement of the NUP98, KMT2A (MLL) genes, sporadic translocations identified both as the only abnormalities and as part of a complex karyotype, early onset of the disease and extremely unfavorable clinical outcome.

Aim

Aim: to present a clinical case of AMKL in a girl without DS with acquired trisomy 21, der(5)t(1;5)(q23-25;q35) and t(3;8) (q21;q24).

Main findings

Main findings. A clinical case of a patient who was diagnosed with AMKL without DS at the age of 1 year and 5 months, accompanied by hepatosplenomegaly, lymphadenopathy, with a rapidly progressive course and lack of response to chemotherapy is described. A standard cytogenetic study revealed acquired trisomy 21, as well as clonal secondary chromosomal rearrangements — der(5)t(1;5)(q23-25;q35) and t(3;8)(q21;q24). The revealed structural aberrations have not yet been described in children with AMKL. The presented observation shows that der(5)t(1;5)(q23-25;q35) and t(3;8)(q21;q24) in combination with acquired trisomy 21 in young children with AMKL may be factors of poor prognosis.

   

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The authors declare that there are no conflicts of interest present.