bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.35754/0234-5730-2021-66-3-424-432bloodjour-302Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCASE REPORTSКлиническое наблюдение хронического миелолейкоза, протекавшего с вариантной транслокацией и дополнительной перестройкой t(1;8)(q23;q24.3)Clinical observation of chronic myeloid leukemia with variant translocation and supplementary rearrangement t(1;8)(q23;q24.3)https://orcid.org/0000-0003-2345-100XАссесороваЮ. Ю.AssesorovaYu. Yu.

Ассесорова Юлиана Юрьевна*, кандидат биологических наук, младший научный сотрудник лаборатории цитогенетики отдела молекулярной медицины и клеточных технологий

 100059, Ташкент 

 Yuliana Yu. Assesorova*, Cand. Sci. (Biol.), Junior Researcher, Laboratory of Cytogenetics, Department of Molecular Medicine and Cell Technologies 

 100059, Tashkent 

yuliana-as@mail.ruhttps://orcid.org/0000-0001-9894-2554МустафинаЛ. К.MustafinaL. K.

 Мустафина Лия Камилевна, врач-лаборант лаборатории цитогенетики отдела молекулярной медицины и клеточных технологий

 100059, Ташкент 

Liya K. Mustafina, Laboratory Doctor, Laboratory of Cytogenetics, Department of Molecular Medicine and Cell Technologies

 100059, Tashkent 

mustafinaliya73@gmail.comhttps://orcid.org/0000-0002-8035-1614ЮсуповаС. А.YusupovaS. A.

 Юсупова Ситора Ахроровна, младший научный сотрудник лаборатории цитогенетики отдела молекулярной медицины и клеточных технологий

100059, Ташкент 

 Sitora A. Yusupova, Junior Researcher, Laboratory of Cytogenetics, Department of Molecular Medicine and Cell Technologies 

 100059, Tashkent 

Sitachocolate@gmail.comhttps://orcid.org/0000-0001-9046-851XСамаринаК. С.SamarinaK. S.

 Самарина Кристина Сергеевна, врач-гематолог консультативно-диагностического отделения

 100059, Ташкент 

 Kristina S. Samarina, Hematologist, Consultative and Diagnostic Department 

 100059, Tashkent 

nickolays_rwc@mail.ruНаучно-исследовательский институт гематологии и переливания крови Министерства Здравоохранения Республики УзбекистанУзбекистанScientific Research Institute of Hematology and Blood Transfusion of the Ministry of Health of the Republic of UzbekistanUzbekistan202124102021663424432Copyright © Ассесорова Ю.Ю., Мустафина Л.К., Юсупова С.А., Самарина К.С., 20212021Ассесорова Ю.Ю., Мустафина Л.К., Юсупова С.А., Самарина К.С.Assesorova Y.Y., Mustafina L.K., Yusupova S.A., Samarina K.S.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/302

Введение. Часть больных хроническим миелолейкозом (ХМЛ) имеют цитогенетически вариантные формы транслокации, приводящей к образованию химерного гена BCR-ABL. Неблагоприятное течение и прогрессия заболевания часто сопровождаются появлением в кариотипе больного дополнительных хромосомных аномалий.Цель — описать клиническое наблюдение больной, у которой ХМЛ протекал с одновременным присутствием в кариотипе вариантной транслокации и уникальной дополнительной реаранжировки t(1;8)(q23;24.3).Основные сведения. Стандартное цитогенетическое исследование (СЦИ), проведенное у больного первичной иммунной тромбоцитопенией и развившимся впоследствии ХМЛ, позволило выявить вариантную транслокацию t(X;9;22)(q28;q34;q11.2), а также дополнительную хромосомную аномалию t(1;8)(q23;q24.1). Представленный случай наблюдения показывает, что СЦИ является важной частью обследования больных с гематологическими патологиями, поскольку позволяет выявлять дополнительные хромосомные перестройки, имеющие диагностическое и прогностическое значение.

Introduction

Introduction. Some patients with chronic myeloid leukemia (CML) have cytogenetically variant forms of translocation that lead to the formation of the coalesced BCR-ABL gene. The adverse course and progression of the disease are often accompanied by the appearance of additional chromosomal abnormalities in the karyotype of the patient.

Aim — to describe a clinical observation of CML that occurred with the simultaneous presence of a variant translocation and a unique additional rearrangement in the patient’s karyotype.

Main findings

Main findings. A conventional cytogenetic analysis performed in a patient with primary immune thrombocytopenia and subsequently developed chronic myeloid leukemia revealed a variant translocation t(X;9;22)(q28;q34;q11.2), as well as an additional chromosomal anomaly t(1;8)(q23;q24.1). The presented case of observation shows that a standard cytogenetic study is an important part of the examination of patients with hematological pathologies, since it allows identifying chromosomal changes that have diagnostic and prognostic signifi cance.

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