Retinoblastoma. Part 1. Clinical presentations and diagnostic tools

<p> <b>Retinoblastoma. Part 1. Clinical presentations and diagnostic tools</b> </p> <p> <b>S.V. Ivanova<sup>1</sup>, S.A. Kuleva<sup>1</sup>, N.N. Sadovnikova<sup>2</sup>, M.I. Komissarov<sup>2</sup>, M.N. Chistyak...

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Main Authors: S.V. Ivanova, S.A. Kuleva, N.N. Sadovnikova, M.I. Komissarov, M.N. Chistyakova, A.V. Khokhlova, N.A. Shchegoleva
Format: Article
Language:Russian
Published: Prime-Media 2020-08-01
Series:РМЖ "Клиническая офтальмология"
Online Access:http://clinopht.com/upload/iblock/bf7/bf759c7178ee9e3b156bd5a9acc3e012.pdf
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author S.V. Ivanova
S.A. Kuleva
N.N. Sadovnikova
M.I. Komissarov
M.N. Chistyakova
A.V. Khokhlova
N.A. Shchegoleva
author_facet S.V. Ivanova
S.A. Kuleva
N.N. Sadovnikova
M.I. Komissarov
M.N. Chistyakova
A.V. Khokhlova
N.A. Shchegoleva
author_sort S.V. Ivanova
collection DOAJ
description <p> <b>Retinoblastoma. Part 1. Clinical presentations and diagnostic tools</b> </p> <p> <b>S.V. Ivanova<sup>1</sup>, S.A. Kuleva<sup>1</sup>, N.N. Sadovnikova<sup>2</sup>, M.I. Komissarov<sup>2</sup>, M.N. Chistyakova<sup>2</sup>, <br> A.V. Khokhlova<sup>1</sup>, N.A. Shchegoleva<sup>3</sup></b> </p> <p> <b><sup>1</sup>N.N. Petrov National Medical Research Center of Oncology, St. Petersburg, <br> &nbsp;Russian Federation</b> </p> <p> <b><sup>2</sup>St. Petersburg State Pediatric Medical University, St. Petersburg, Russian Federation</b> </p> <p> <b><sup>3</sup>K.A. Rauchfuss St. Petersburg Children’s City Multidisciplinary Clinical Center of High Medical Technologies, St. Petersburg, Russian Federation</b> </p> <p> <i>Retinoblastoma is one of the most common retinal tumors in young children. At the time of primary diagnosis, mean age is no more than 1.5 years. The association between tumor development and the loss of both alleles of RB1 gene is well-established. Mutations in the RB1 gene result in the complete inactivation of retinoblastoma protein expression and, therefore, uncontrolled cell proliferation and generation of tumor cell clone. There are two types of retinoblastoma, i.e., hereditary and sporadic. This paper describes in detail clinical epidemiological characteristics of hereditary and sporadic retinoblastoma and major clinical signs (in particular, one of the most early and common symptoms, leukocoria). Histology of malignant tumor and its benign precursor is addressed. Current classification systems of intraocular retinoblastoma are based on tumor extent being required to specify clear indications for organ preservation treatment. Modern diagnostic tools for retinoblastoma are discussed as well. Eye fundus examination is the gold standard but has some specifics in young children. Other important imaging techniques in retinoblastoma are sonography, optical coherence tomography, and magnetic resonance imaging.</i> </p> <p> <i><b>Keywords</b>: children, retinoblastoma, heredity, retinoblastoma gene, pathomorphology, leukocoria, ophthalmoscopy, sonography.</i> </p> <p> <i><b>For citation:</b> Ivanova S.V., Kuleva S.A., Sadovnikova N.N. et al. Retinoblastoma. Part 1. Clinical presentations and diagnostic tools. Russian Journal of Clinical Ophthalmology. 2020;20(3):159–164. DOI: 10.32364/2311-7729-2020-20-3-159-164.</i> </p> <i><br> </i><br>
format Article
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institution Kabale University
issn 2311-7729
2619-1571
language Russian
publishDate 2020-08-01
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record_format Article
series РМЖ "Клиническая офтальмология"
spelling doaj-art-1333f7a9bec24d99b7a180585d9f44a72025-01-16T09:39:39ZrusPrime-MediaРМЖ "Клиническая офтальмология"2311-77292619-15712020-08-0120331161Retinoblastoma. Part 1. Clinical presentations and diagnostic toolsS.V. Ivanova0S.A. Kuleva1N.N. Sadovnikova2M.I. Komissarov3M.N. Chistyakova4A.V. Khokhlova5N.A. Shchegoleva6Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399Russian Journal of Clinical Ophthalmology, Publisher of «Medicina-Inform» Address for correspondence: Russia, 105064, Moscow, P.O. Box 399<p> <b>Retinoblastoma. Part 1. Clinical presentations and diagnostic tools</b> </p> <p> <b>S.V. Ivanova<sup>1</sup>, S.A. Kuleva<sup>1</sup>, N.N. Sadovnikova<sup>2</sup>, M.I. Komissarov<sup>2</sup>, M.N. Chistyakova<sup>2</sup>, <br> A.V. Khokhlova<sup>1</sup>, N.A. Shchegoleva<sup>3</sup></b> </p> <p> <b><sup>1</sup>N.N. Petrov National Medical Research Center of Oncology, St. Petersburg, <br> &nbsp;Russian Federation</b> </p> <p> <b><sup>2</sup>St. Petersburg State Pediatric Medical University, St. Petersburg, Russian Federation</b> </p> <p> <b><sup>3</sup>K.A. Rauchfuss St. Petersburg Children’s City Multidisciplinary Clinical Center of High Medical Technologies, St. Petersburg, Russian Federation</b> </p> <p> <i>Retinoblastoma is one of the most common retinal tumors in young children. At the time of primary diagnosis, mean age is no more than 1.5 years. The association between tumor development and the loss of both alleles of RB1 gene is well-established. Mutations in the RB1 gene result in the complete inactivation of retinoblastoma protein expression and, therefore, uncontrolled cell proliferation and generation of tumor cell clone. There are two types of retinoblastoma, i.e., hereditary and sporadic. This paper describes in detail clinical epidemiological characteristics of hereditary and sporadic retinoblastoma and major clinical signs (in particular, one of the most early and common symptoms, leukocoria). Histology of malignant tumor and its benign precursor is addressed. Current classification systems of intraocular retinoblastoma are based on tumor extent being required to specify clear indications for organ preservation treatment. Modern diagnostic tools for retinoblastoma are discussed as well. Eye fundus examination is the gold standard but has some specifics in young children. Other important imaging techniques in retinoblastoma are sonography, optical coherence tomography, and magnetic resonance imaging.</i> </p> <p> <i><b>Keywords</b>: children, retinoblastoma, heredity, retinoblastoma gene, pathomorphology, leukocoria, ophthalmoscopy, sonography.</i> </p> <p> <i><b>For citation:</b> Ivanova S.V., Kuleva S.A., Sadovnikova N.N. et al. Retinoblastoma. Part 1. Clinical presentations and diagnostic tools. Russian Journal of Clinical Ophthalmology. 2020;20(3):159–164. DOI: 10.32364/2311-7729-2020-20-3-159-164.</i> </p> <i><br> </i><br>http://clinopht.com/upload/iblock/bf7/bf759c7178ee9e3b156bd5a9acc3e012.pdf
spellingShingle S.V. Ivanova
S.A. Kuleva
N.N. Sadovnikova
M.I. Komissarov
M.N. Chistyakova
A.V. Khokhlova
N.A. Shchegoleva
Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
РМЖ "Клиническая офтальмология"
title Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
title_full Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
title_fullStr Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
title_full_unstemmed Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
title_short Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
title_sort retinoblastoma part 1 clinical presentations and diagnostic tools
url http://clinopht.com/upload/iblock/bf7/bf759c7178ee9e3b156bd5a9acc3e012.pdf
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AT mikomissarov retinoblastomapart1clinicalpresentationsanddiagnostictools
AT mnchistyakova retinoblastomapart1clinicalpresentationsanddiagnostictools
AT avkhokhlova retinoblastomapart1clinicalpresentationsanddiagnostictools
AT nashchegoleva retinoblastomapart1clinicalpresentationsanddiagnostictools