bloodjourГематология и трансфузиологияRussian journal of hematology and transfusiology0234-57302411-3042ООО Издательский дом «Практика»10.35754/0234-5730-2020-65-1-39-51bloodjour-185Research ArticleКЛИНИЧЕСКИЕ НАБЛЮДЕНИЯCASE REPORTSДиагностика и лечение острого лимфобластного лейкоза у больного синдромом Ниймеген, впервые диагностированным во взрослом возрастеDiagnosis and treatment of acute lymphoblastic leukemia in a patient with niimegen syndrome first diagnosed in adulthoodhttps://orcid.org/0000-0003-2947-6398ЗарубинаК. И.ZarubinaK. I.

Зарубина Ксения Игоревна – аспирант, врач-гематолог отделения интенсивной высокодозной химиотерапии гемобластозов и депрессий кроветворения с круглосуточным стационаром.

125167, Москва

Kseniya I. Zarubina – Post-graduate student, Hematologist, Intensive High-dose Chemotherapy Department of Hemoblastosis and Hematopoiesis Depressions.

125167, Moscow

ksenijazarubina@mail.ruhttps://orcid.org/0000-0001-6177-3566ПаровичниковаЕ. Н.ParovnikovaE. N.

Паровичникова Елена Николаевна – доктор медицинских наук, руководитель отдела химиотерапии гемобластозов, депрессий кроветворения и трансплантации костного мозга.

125167, Москва

Elena N. Parovnikova – Dr. Sci. (Med.), Head of the Department of Hemoblastosis Chemotherapy, Hematopoiesis Depressions and Bone Marrow Transplantation.

125167, Moscow

elenap@blood.ruhttps://orcid.org/0000-0003-0261-5941КохноА. В.KokhnoA. V.

Кохно Алина Владимировна – кандидат медицинских наук, ведущий научный сотрудник отделения интенсивной высокодозной химиотерапии гемобластозов и депрессий кроветворения с круглосуточным стационаром.

125167, Москва

Alina V. Kokhno – Cand. Sci. (Med.), Hematologist, Intensive High-dose Chemotherapy Department of Hemoblastosis and Hematopoiesis Depressions.

125167, Moscow

anilako@rambler.ruhttps://orcid.org/0000-0002-9969-8482ГаврилинаО. А.GavrilinaO. A.

Гаврилина Ольга Александровна – кандидат медицинских наук, старший научный сотрудник отделения интенсивной высокодозной химиотерапии гемобластозов и депрессий кроветворения с круглосуточным стационаром.

125167, Москва

Olga A. Gavrilina – Cand. Sci. (Med.), Hematologist, Intensive High-dose Chemotherapy Department of Hemoblastosis and Hematopoiesis Depressions.

125167, Moscow

dr.gavrilina@mail.ruhttps://orcid.org/0000-0002-4827-8947ТроицкаяВ. В.TroitskayaV. V.

Троицкая Вера Витальевна – кандидат медицинских наук, заведующая отделением интенсивной высокодозной химиотерапии гемобластозов и депрессий кроветворения с круглосуточным стационаром.

125167, Москва

Vera V. Troitskaya – Cand. Sci. (Med.), Head of the Intensive High-dose Chemotherapy Department of Hemoblastosis and Hematopoiesis Depressions.

125167, Moscow

verat@blood.ruhttps://orcid.org/0000-0003-1613-652XОбуховаТ. Н.ObukhovaT. N.

Обухова Татьяна Никифоровна – кандидат медицинских наук, заведующая лабораторией кариологии.

125167, Москва

Tatiana N. Obukhova – Cand. Sci. (Med.), Head of the Karyology Laboratory.

125167, Moscow

obukhova.t@blood.ruhttps://orcid.org/0000-0002-1082-8659КовригинаА. М.KovriginaA. M.

Ковригина Алла Михайловна – доктор биологических наук, заведующая патологоанатомическим отделением.

125167, Москва

Alla M. Kovrigina – Dr. Sci. (Med.), Head of the Pathology Department.

125167, Moscow

kovrigina.alla@gmail.comhttps://orcid.org/0000-0001-5973-5763КлясоваГ. А.KlyasovaG. A.

Клясова Галина Александровна – доктор медицинских наук, профессор, заведующая лаборатория клинической бактериологии, микологии и антибиотической терапии.

125167, Москва

Galina A. Klyasova – Dr. Sci. (Med.), Professor, Head of the Laboratory for Clinical Bacteriology, Mycology and Antibiotic therapy.

125167, Moscow

klias@blood.ruРайкинаЕ. В.RaikinaE. V.

Райкина Елена Владиславовна – кандидат медицинских наук, заведующая лабораторией молекулярной биологии.

ГСП-7, 117997 Москва

Elena V. Raikina – Cand. Sci. (Med.), Head of the Molecular Biology Laboratory.

 

Elena.Raykina@fccho-moscow.ruМасчанМ. А.MaschanM. A.

ГСП-7, 117997 Москва

ФГБУ «Национальный медицинский исследовательский центр гематологии» Министерства здравоохранения Российской ФедерацииРоссияNational Research Center for HematologyRussian FederationФГБУ «Национальный медицинский исследовательский центр детской гематологии, онкологии и иммунологии имени Дмитрия Рогачева» Министерства здравоохранения Российской ФедерацииРоссияDmitry Rogachev National Research Center for Pediatric Hematology, Oncology, and ImmunologyRussian Federation2020110320206513951Copyright © Зарубина К.И., Паровичникова Е.Н., Кохно А.В., Гаврилина О.А., Троицкая В.В., Обухова Т.Н., Ковригина А.М., Клясова Г.А., Райкина Е.В., Масчан М.А., 20202020Зарубина К.И., Паровичникова Е.Н., Кохно А.В., Гаврилина О.А., Троицкая В.В., Обухова Т.Н., Ковригина А.М., Клясова Г.А., Райкина Е.В., Масчан М.А.Zarubina K.I., Parovnikova E.N., Kokhno A.V., Gavrilina O.A., Troitskaya V.V., Obukhova T.N., Kovrigina A.M., Klyasova G.A., Raikina E.V., Maschan M.A.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/185Введение

Введение. Синдром Ниймеген — редкое наследственное аутосомно-рецессивное заболевание, характеризующееся микроцефалией, комбинированным первичным иммунодефицитом, чувствительностью к радиоактивному излучению и предрасположенностью к опухолям различной природы (особенно лимфатической ткани). Этот синдром входит в группу заболеваний, характеризующихся хромосомной нестабильностью. Причиной развития заболевания является мутация в гене NBS1, который контролирует репарацию парных разрывов двуспиральной ДНК.

Цель — описание клинического случая диагностики и лечения Т-клеточного острого лимфобластного лейкоза у больного с синдромом Ниймеген, впервые диагностированным во взрослом возрасте.

Основные сведения

Основные сведения. Представлено клиническое наблюдение диагностики и лечения синдрома Ниймеген у молодого человека, заболевшего de novo Т-клеточным острым лимфобластным лейкозом. Описанное наблюдение демонстрирует сложность диагностики наследственных генетических синдромов на ранних этапах болезни. С течением времени, когда начинают развиваться поздние осложнения, а именно, заболевания опухолевой природы у детей и молодых взрослых, генетическая природа этого феномена становится более очевидной. Большое значение имеет как можно более раннее выявление у ребенка наследственного генетического синдрома.

Background

Background. Nijmegen breakage syndrome is a rare hereditary autosomal recessive disorder characterized by microcephaly, combined primary immunodeficiency, sensitivity to radioactive radiation and liability to tumours of various nature (in particular, those developing in the lymphatic tissue). This syndrome is part of a group of diseases characterized by chromosomal instability. This disease develops as a result of mutations in the NBS1 gene, which is responsible for repairing DNA double-stranded breaks.

Aim

Aim. To describe a clinical case of the diagnosis and treatment of T-cell acute lymphoblastic leukemia in a patient with Nijmegen syndrome, which was first diagnosed in adulthood.

General findings

General findings. A clinical case of the diagnosis and treatment of Nijmegen syndrome in a young man with de novo T-cell acute lymphoblastic leukemia is presented. The difficulty of early diagnosis of hereditary genetic syndromes is demonstrated. The genetic character of such conditions is revealed over time, when children and young adults begin to develop long-term complications, in particular tumours of various origins. Early detection of hereditary genetic syndromes in children is of great importance.

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