nodgoРоссийский журнал детской гематологии и онкологии (РЖДГиО)Russian Journal of Pediatric Hematology and Oncology2311-12672413-5496LTD “Graphica”10.21682/2311-1267-2023-10-2-34-43nodgo-932Research ArticleОРИГИНАЛЬНЫЕ ИССЛЕДОВАНИЯORIGINAL STUDIESОсобенности молекулярно-генетической диагностики ретинобластомыFeatures of molecular genetic diagnosis of retinoblastomahttps://orcid.org/0000-0002-2197-8863ЗеленоваЕ. Е.ZelenovaE. E.

Екатерина Евгеньевна Зеленова, врач-генетик поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова, 115522, Москва, Каширское шоссе, 23;

стажер-исследователь Научно-образовательного ресурсного центра  «Высокопроизводительные методы геномного анализа», 117198, Москва, ул. Миклухо-Маклая, 6

Geneticist Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov, 23 Kashirskoe Shosse, Moscow, 115522;

Intern Researcher Research and Educational Resource Center “High-Performance Methods of Genomic Analysis”, 6 Miklukho-Maklaya St., Moscow, 117198

zelenovayeye@gmail.comhttps://orcid.org/0000-0002-0442-5810КозловаВ. М.KozlovaV. M.

врач-генетик поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова,

115522, Москва, Каширское шоссе, 23

Geneticist Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov,

23 Kashirskoe Shosse, Moscow, 115522

valentina-mk2011@yandex.ruЮгайО. В.YugayO. V.

врач-офтальмолог поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова,

115522, Москва, Каширское шоссе, 23

Ophthalmologist Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov,

23 Kashirskoe Shosse, Moscow, 115522

yuga.1983@mail.ruКюнЮ. А.KyunYu. A.

врач-офтальмолог поликлинического отделения НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова,

115522, Москва, Каширское шоссе, 23

Ophthalmologist Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov,

23 Kashirskoe Shosse, Moscow, 115522

julia.kuhn@yandex.ruhttps://orcid.org/0000-0003-3263-6655УшаковаТ. Л.UshakovaT. L.

д.м.н., ведущий научный сотрудник детского онкологического отделения хирургических методов лечения с проведением химиотерапии № 1 (опухолей головы и шеи) НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова, 115522, Москва, Каширское шоссе, 23;

профессор кафедры детской онкологии им. акад. Л.А. Дурнова, 125993, Москва, ул. Баррикадная, 2/1, стр. 1

Dr. of Sci. (Med.), Leading Researcher Pediatric Oncology Department of Surgical Treatment with Chemotherapy No. 1 (Head and Neck Tumors) of the Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov, 23 Kashirskoe Shosse, Moscow, 115522;

Professor at the Department of Pediatric Oncology named after Academician L.A. Durnov, Bld. 1, 2/1 Barrikadnaya St., Moscow, 125993

ushtat07@mail.ruhttps://orcid.org/0000-0002-9502-072XМихайловаС. Н.MikhailovaS. N.

к.м.н., заведующая поликлиническим отделением НИИ детской онкологии и гематологии им. акад. РАМН Л.А. Дурнова,

115522, Москва, Каширское шоссе, 23

Cand. of Sci. (Med.), Head of Polyclinic Department Research Institute of Pediatric Oncology and Hematology named after Academician of the Russian Academy of Medical Sciences L.A. Durnov,

 23 Kashirskoe Shosse, Moscow, 115522

https://orcid.org/0000-0001-6337-7719АлексееваЕ. А.AlekseevaE. A.

к.б.н., научный сотрудник лаборатории эпигенетики, врач-лабораторный генетик лаборатории молекулярно-генетической диагностики-2,

115522, Москва, ул. Москворечье, 1 

Cand. of Sci. (Biol.), Senior Researcher Laboratory of Epigenetics, Laboratory Geneticist Laboratory of Molecular Genetic Diagnostics-2,

1 Moskvorechye St., Moscow, 115522

ekater.alekseeva@gmail.comМусатоваВ. В.MusatovaV. V.

к.б.н., врач-лабораторный генетик, заведующая лабораторией молекулярно-генетической диагностики-2,

115522, Москва, ул. Москворечье, 1

Cand. of Sci. (Biol.), Laboratory Geneticist, Head of the Laboratory of Molecular Genetic Diagnostics-2,

1 Moskvorechye St., Moscow, 115522

ФГБУ «НМИЦ онкологии им. Н.Н. Блохина» Минздрава России; ФГАОУ ВО «Российский университет дружбы народов имени Патриса Лумумбы»РоссияN.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Peoples’ Friendship University of Russia named after Patrice LumumbaRussian FederationФГБУ «НМИЦ онкологии им. Н.Н. Блохина» Минздрава РоссииРоссияN.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of RussiaRussian FederationФГБУ «НМИЦ онкологии им. Н.Н. Блохина» Минздрава России; ФГБОУ ДПО «Российская медицинская академия непрерывного профессионального образования» Минздрава РоссииРоссияN.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia; Russian Medical Academy of Continuous Professional Education, Ministry of Health of RussiaRussian FederationФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical Genetics named after Academician N.P. BochkovRussian Federation2023160720231023443Copyright © Зеленова Е.Е., Козлова В.М., Югай О.В., Кюн Ю.А., Ушакова Т.Л., Михайлова С.Н., Алексеева Е.А., Мусатова В.В., 20232023Зеленова Е.Е., Козлова В.М., Югай О.В., Кюн Ю.А., Ушакова Т.Л., Михайлова С.Н., Алексеева Е.А., Мусатова В.В.Zelenova E.E., Kozlova V.M., Yugay O.V., Kyun Y.A., Ushakova T.L., Mikhailova S.N., Alekseeva E.A., Musatova V.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://journal.nodgo.org/jour/article/view/932

Ретинобластома (РБ) – одно из наиболее часто встречающихся злокачественных новообразований (ЗНО) органа зрения у детей с установленным генетическим фактором в развитии заболевания. Выявление мутаций в гене RB1 успешно осуществляется на протяжении многих лет, однако развитие технологий ДНК-диагностики РБ позволяет рассматривать данное заболевание не только как самостоятельное ЗНО, но и как одно из проявлений более сложных генетических синдромов с вовлечением комплекса генов. Важно понимать, что от правильной постановки генетического диагноза зависят прогноз здоровья пациента с РБ и рекомендации по его дальнейшему наблюдению, а также корректная оценка рисков рождения в семье детей с данной патологией.

На сегодняшний день доступными методами ДНК-диагностики гена RB1 являются секвенирование нового поколения (NGS) и мультиплексная амплификация лигированных зондов (MLPA). Однако в ряде случаев может потребоваться дополнительная диагностика – исследование кариотипа или хромосомный микроматричный анализ (ХМА). В данной работе приводится молекулярно-генетическое исследование детей с уни- и билатеральной РБ с протяженной делецией в локусе гена RB1. Целью работы было определить возможные показания для назначения расширенной ДНК-диагностики.  

Retinoblastoma (RB) is one of the most common malignant neoplasms of the visual organ in children, with an established genetic factor in the development of the disease. The detection of mutations in the RB1 gene has been successfully carried out for many years, however, the development of technologies for DNA diagnostics of RB allows us to consider this disease not only as an independent tumor, but also as one of the manifestations of more complicated genetic syndromes involving a complex of genes. The correct genetic diagnosis is important to understand the prognosis of the health of a patient with RB and recommendations for his further observation, as well as a correct assessment of the risks of having children with the same pathology in the family.

Currently available methods of DNA diagnostics of the RB1 gene are new generation sequencing (NGS) and multiplex amplification of ligated probes (MLPA). However, in some cases, additional diagnostics may be required – a karyotype study or chromosomal micromatrix analysis (CMA). In this article we present a molecular genetic study of children with uni- and bilateral RB with an extended deletion at the RB1 gene locus. The aim of the study was determining of possible indications for the appointment of extended DNA diagnostics.

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