Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
DOI: 10.32364/2311-7729-2020-20-3-159-164
Retinoblastoma. Part 1. Clinical presentations and diagnostic tools
S.V. Ivanova1, S.A. Kuleva1, N.N. Sadovnikova2, M.I. Komissarov2, M.N. Chistyakova2,
A.V. Khokhlova1, N.A. Shchegoleva3
1N.N. Petrov National Medical Research Center of Oncology, St. Petersburg,
Russian Federation
2St. Petersburg State Pediatric Medical University, St. Petersburg, Russian Federation
3K.A. Rauchfuss St. Petersburg Children’s City Multidisciplinary Clinical Center of High Medical Technologies, St. Petersburg, Russian Federation
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.
Keywords: children, retinoblastoma, heredity, retinoblastoma gene, pathomorphology, leukocoria, ophthalmoscopy, sonography.
For citation: 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.
2. Каприн А.Д., Старинский В.В., Петрова Г.В. Злокачественные новообразования в России в 2017 году (заболеваемость и смертность). МНИОИ им. П.А. Герцена, филиал ФГБУ «НМИЦ радиологии» Минздрава России, 2018.
[Kaprin A.D., Starinsky V.V., Petrova G.V. Malignant neoplasms in Russia in 2017 (morbidity and mortality). FGBU “NMITS Radiology” MNIOI named after P.A. Herzen, 2018 (in Russ.)].
3. Soliman S.E., Racher H., Zhang C. et al. Genetics and Molecular Diagnostics in Retinoblastoma — An Update. Asia Pac J Ophthalmol (Phila). 2017;6(2):197–207. DOI: 10.22608/APO.201711.
4. Berger A.H., Knudson A.G., Pandolfi P.P. A continuum model for tumour suppression. Nature. 2011;476(7359):163–169. DOI: 10.1038/nature10275.
5. Berry J.L., Polski A., Cavenee W.K. et al. The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene. Genes. 2019;10(11):879. DOI: 10.3390/genes10110879.
6. Dimaras H., Kimani K., Dimba E.A. et al. Retinoblastoma. Lancet. 2012;379(9824):1436–1446. DOI: 10.1016/S0140-6736 (11) 61137-9.
7. Li W.L., Buckley J., Sanchez-Lara P.A. et al. A Rapid and Sensitive Next-Generation Sequencing Method to Detect RB1 Mutations Improves Care for Retinoblastoma Patients and Their Families. J Mol Diagn. 2016;18(4):480–493. DOI: 10.1016/j.jmoldx.2016.02.006.
8. Price E.A., Price K., Kolkiewicz K. et al. Spectrum of RB1 mutations identified in 403 retinoblastoma patients. J Med Genet. 2014;51(3):208–214. DOI: 10.1136/jmedgenet-2013-101821.
9. Rushlow D., Piovesan B., Zhang K. et al. Detection of mosaic RB1 mutations in families with retinoblastoma. Hum Mutat. 2009;30:842–851. DOI: 10.1002/humu.20940.
10. Dimaras H., Corson T.W., Cobrinik D. et al. Retinoblastoma. Nat Rev Dis Primers. 2015;1:15021. DOI:10.1038/nrdp.2015.21.
11. De Jong M.C., Kors W.A., de Graaf P. et al. Trilateral retinoblastoma: a systematic review and meta-analysis. Lancet Oncol. 2014;15(10):1157–1167. DOI: 10.1016/S1470-2045 (14) 70336-5.
12. Rushlow D.E., Mol B.M., Kennett J.Y. et al. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies. Lancet Oncol. 2013;14(4):327–334. DOI: 10.1016/S1470-2045 (13) 70045-7.
13. Schwermer M., Hiber M., Dreesmann S. et al. Comprehensive characterization of RB1 mutant and MYCN amplified retinoblastoma cell lines. Exp Cell Res. 2019;375(2):92–99. DOI: 10.1016/j.yexcr.2018.12.018.
14. Grossniklaus H.E., Eberhart C.G., Kivelä T.T. WHO Classification of Tumours of the Eye. 4th Edition. Lyon: International Agency for Research on Cancer, 2018.
15. Reese A.B., Ellsworth R.M. The evaluation and current concept of retinoblastoma therapy. Trans Am Acad Ophthalmol-Otolaryngol. 1963:164–172. PMID: 13973597.
16. Murphree L.A. Intraocular retinoblastoma: the case for a new group classification. Ophthalmol Clin North Am. 2005;18(1):41–53. DOI: 10.1016/j.ohc.2004.11.003.
17. Shields C.L., Mashayekhi A., Au A.K. et al. The International Classification of Retinoblastoma predicts chemoreduction success. Ophthalmol. 2006;113(12):2276–2280. DOI: 10.1016/j.ophtha.2006.06.018.
18. Chantada G., Doz F., Antoneli C.B. et al. A proposal for an international retinoblastoma staging system. Pediatr. Blood Cancer. 2006;47:801–805. DOI: 10.1002/pbc.20606.
19. Amin M.B., Edge S.B., Greene F.L. et al. AJCC Cancer Staging Manual. 8th ed. NY: Springer; 2017:819–831. DOI: 10.1007/978-3-319-40618-3.
20. Кулева С.А., Иванова С.В., Садовникова Н.Н. и др. Ретинобластома: клиника, диагностика и лечение: учебно-методическое пособие для обучающихся в системе высшего и дополнительного профессионального образования. СПб.; 2019.
[Kuleva S.A., Ivanova S.V., Sadovnikova N.N. et al. Retinoblastoma: clinical features, diagnosis and treatment. SPb.; 2019 (in Russ.)].
21. Moulin A.P., Gaillard M.C., Balmer A., Munier F.L. Ultrasound biomicroscopy evaluation of anterior extension in retinoblastoma: a clinicopathological study. Br J Ophthalmol. 2012;96(3):337–340. DOI: 10.1136/bjophthalmol-2011-300051.
22. Vasquez L.M., Giuliari G.P., Halliday W. et al. Ultrasound biomicroscopy in the management of retinoblastoma. Eye (Lond.). 2011;25(2):141–147. DOI: 10.1038/eye.2010.193.
23. De Jong M.C., de Graaf P., Noij D.P. et al. European Retinoblastoma Imaging Collaboration (ERIC). Diagnostic performance of magnetic resonance imaging and computed tomography for advanced retinoblastoma: a systematic review and meta-analysis. Ophthalmology. 2013;121(5):1109–1118. DOI: 10.1016/j.ophtha.2013.11.021.
24. De Graaf P., Göricke S., Rodjan F. et al. European Retinoblastoma Imaging Collaboration (ERIC). Guidelines for imaging retinoblastoma: imaging principles and MRI standardization. Pediatric radiology. 2011;42(1):2–14. DOI: 10.1007/s00247-011-2201-5.
This work is licensed under a Creative Commons «Attribution» 4.0 License.
Распечатать