oncotomskСибирский онкологический журналSiberian journal of oncology1814-48612312-3168Tomsk National Research Medical Сепtеr of the Russian Academy of Sciences10.21294/1814-4861-2018-17-2-82-88oncotomsk-719Research ArticleОБЗОРЫREVIEWSНАСЛЕДСТВЕННАЯ УВЕАЛЬНАЯ МЕЛАНОМА: ОБЗОР ЛИТЕРАТУРЫ И КЛИНИЧЕСКИЙ СЛУЧАЙHEREDITARY UVEAL MELANOMA: A REVIEW OF LITERATURE AND A CASE REPORTСемьянихинаА. В.SemyanikhinaA. V.

врач-онколог лаборатории клинической онкогенетики, НИИ КО «ФГБУ НМИЦ онкологии им. Н.Н. Блохина» Минздрава России (г. Москва, Россия)

SPIN-код: 1751-7909

MD, Laboratory of Clinical Oncogenetics, Scientific and Research Institute of Clinical Oncology, N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of the Russian Federation (Moscow, Russia)

alexandra_silina@mail.ruФилипповаМ. Г.FilippovaM. G.

кандидат медицинских наук, старший научный сотрудник лаборатории клинической онкогенетики, НИИ КО «ФГБУ НМИЦ онкологии им. Н.Н. Блохина» Минздрава России (г. Москва, Россия). E-mail

SPIN-код: 1927-6110

MD, PhD, Senior Research Scientist, Laboratory of Clinical Oncogenetics, Scientific and Research Institute of Clinical Oncology, N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of the Russian Federation (Moscow, Russia)

fimargarita@yandex.ruАрхиповаО. Н.ArkhipovaO. N.

младший научный сотрудник лаборатории клинической онкогенетики, НИИ КО «ФГБУ НМИЦ онкологии им. Н.Н. Блохина» Минздрава России (г. Москва, Россия)

Junior Researcher, Laboratory of Clinical Oncogenetics, Scientific and Research Institute of Clinical Oncology, N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of the Russian Federation (Moscow, Russia)

arkhipova-69@bk.ruЛюбченкоЛ. Н.LyubchenkoL. N.

доктор медицинских наук, заведующая лабораторией клинической онкогенетики, НИИ КО «ФГБУ НМИЦ онкологии им. Н.Н. Блохина» Минздрава России (г. Москва, Россия)

SPIN-код: 95899057

Author ID: 6603827727

MD, PhD, Head of the Laboratory of Clinical Oncogenetics, Scientific and Research Institute of Clinical Oncology, N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of the Russian Federation (Moscow, Russia)

Author ID: 6603827727

clingen@mail.ruФГБУ «НМИЦ онкологии им. Н.Н. Блохина» Минздрава России, г. МоскваРоссияN.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of the Russian Federation, MoscowRussian Federation2018080520181728288Copyright © Семьянихина А.В., Филиппова М.Г., Архипова О.Н., Любченко Л.Н., 20182018Семьянихина А.В., Филиппова М.Г., Архипова О.Н., Любченко Л.Н.Semyanikhina A.V., Filippova M.G., Arkhipova O.N., Lyubchenko L.N.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.siboncoj.ru/jour/article/view/719

Увеальная меланома (УМ) – самое частое первичное злокачественное новообразование увеального тракта с молекулярно-генетическими характеристиками, позволяющими отличать ее от других подтипов меланомы. Соматические мутации в опухоли при УМ вовлекают ряд генов – BAP1, EIF1AX, GNA11, GNAQ и SF3B1, которые определяют биологию и поведение опухоли, являясь предикторами течения заболевания. Примерно в 2–5 % случаев развитие УМ ассоциировано с наследственной патологией и связано с герминальными мутациями в генах, ответственных за тот или иной синдром. На данный момент описано несколько таких синдромов, среди которых BAP1-ассоциированный синдром, FAMMM-синдром, синдром Ли–Фраумени и др. В настоящей статье приводится анализ современного представления о природе наследственной УМ и рассматривается клинический случай семейной УМ.

 

Uveal melanoma (UM) is the most common primary intra-ocular malignancy. Uveal melanoma is distinct from other subtypes of melanoma by its molecular and genetic characteristics. Somatic mutations in UM tumor involve genes, such as BAP1, EIF1AX, GNA11, GNAQ and SF3B1, that determine the biology and behavior of a tumor and appear to be predictors of disease. In 25 % of cases, the development of UM is associated with hereditary diseases and can be caused by germline mutations in genes that are responsible for a particular syndrome. Several such syndromes (BAP1-associated syndrome, FAMMM-syndrome, Li-Fraumeni syndrome and etc.) have been identified. In this article we analyze the modern concept of the nature of hereditary UM and present the case of hereditary UM.

 

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