Russian Pediatric OphthalmologyRussian Pediatric OphthalmologyРоссийская педиатрическая офтальмология1993-18592412-432XEco-Vector3957110.18821/1993-1859-2017-12-2-107-112ArticlesСтатьиReview ArticleTHE CLINICAL AND GENETIC ASPECTS OF DIFFUSE INFILTRATING RETINOBLASTOMA: A LITERATURE REVIEW AND CLINICAL CASE PRESENTATIONКЛИНИКО-ГЕНЕТИЧЕСКИЕ ОСОБЕННОСТИ ДИФФУЗНОЙ ИНФИЛЬТРАТИВНОЙ РЕТИНОБЛАСТОМЫ: ОБЗОР ЛИТЕРАТУРЫ И КЛИНИЧЕСКИЙ СЛУЧАЙSaakyanS. VСаакянС. ВTsygankovAlexandr Yur’evichЦыганковАлександр Юрьевич

assistant for the Department of Eye Diseases, A.I. Evdokimov Moscow State Medical Stomatological University, Russian Ministry of Health, Moscow, 127473, and junior research worker. The Helmholtz Moscow Research Institute of Eye Diseases, Russian Ministry of Health, Moscow, 105062, Russian Federation

ассистент кафедры глазных болезней ФДПО МГМСУ им. А.И. Евдокимова, младший научный сотрудник МНИИ ГБ им. Гельмгольца

alextsygankovl986@yandex.ruThe Helmholtz Moscow Research Institute of Eye Diseases, Russian Ministry of HealthФГБУ «Московский НИИ глазных болезней им. Гельмгольца» Минздрава РоссииA.I. Evdokimov Moscow State Medical Stomatological University, Russian Ministry of HealthГБОУ ВПО «Московский государственный медико-стоматологический университет им. А.И. Евдокимова» Минздрава России15062017122VOL 12, NO2 (2017)ТОМ 12, №2 (2017)10711222072020Copyright ©; 2017, Eco-VectorCopyright ©; 2017, ООО "Эко-Вектор"2017Eco-VectorООО "Эко-Вектор"https://ruspoj.com/1993-1859/article/view/39571

Purpose. The objective of the present study was to provide a short review and summarize the available information concerning the main symptoms of diffuse infiltrating retinoblastoma encountered in the ophthalmological practice and compare them with the manifestations of typical retinoblastoma. The secondary objective was to discuss the genetic paradigm of diffuse infiltrating retinoblastoma that is frequently interpreted as a sporadic condition despite the evidence suggesting its genetic predisposition and inheritable etiology that have become increasingly widely recognized during the last years. A literature search for the information about diffuse infiltrating retinoblastoma in the Russian, English, German, and Spanish scientific journals made it possible to reveal a total of 77 patients described in the available literature. In addition, the main specific clinical and gender-related features of diffuse infiltrating retinoblastoma were identified. The results of initial working diagnostics and referral diagnoses are presented with special reference to the importance of the molecular-genetic analysis and the multidisciplinary approach to the treatment and examination of the patients and their relatives. It is concluded that the adequate medical follow-up care needs to be provided in order to diagnose the possible associated cancers. A clinical case of diffuse infiltrative retinoblastoma in a 6-year old male patient is presented.

Цель - обобщение актуальной информации об основных симптомах диффузной инфильтративной ретинобластомы и их сопоставление с традиционной локализацией ретинобластомы, а также обсуждение генетической парадигмы заболевания, которое чаще всего характеризуется как спорадическое, несмотря на наличие сведений о возможной наследственной этиологии. Литературный поиск проведен в источниках на русском, английском, немецком и испанском языках, при этом обнаружено всего 77 случаев. Приведены основные клинические и гендерные особенности диффузной инфильтративной ретинобластомы. В случае диффузной инфильтративной ретинобластомы необходимо проведение молекулярно-генетического анализа и мультидисциплинарный подход при лечении пациентов. Представлен клинический случай диффузной инфильтративной ретинобластомы у мальчика в возрасте 6 лет.

diffuse infiltrative retinoblastomaretinoblastomaintraocular tumorretinaдиффузная инфильтративная ретинобластомаретинобластомавнутриглазная опухольсетчаткаKivela T. The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death. Br. J. Ophthalmol. 2009; 93: 1129-31.Shields C.L., Lally S.E., Leahey A.M., Jabbour P.M., Caywood E.H., Schwendeman R., Shields J.A. Targeted retinoblastoma management: when to use intravenous, intra-arterial, periocular, and intravitreal chemotherapy. Curr. Opin. Ophthalmol. 2014; 25: 374-85.Shields C.L., Ghassemi F., Tuncer S., Thangappan A., Shields J.A. Clinical spectrum of diffuse infiltrating retinoblastoma in 34 consecutive eyes. Ophthalmology. 2008; 115: 2253-8.Bhatnagar R., Vine A.K. Diffuse infiltrating retinoblastoma. Ophthalmology. 1991; 98: 1657-61.Jijelava K.P., Grossniklaus H.E. Diffuse anterior retinoblastoma: a review. Saudi J. Ophthalmol. 2013; 27: 135-9.Kao L.Y. Diffuse infiltrating retinoblastoma: an inherited case. Retina. 2000; 20: 217-9.Materin M.A., Shields C.L., Shields J.A., Eagle R.C. Jr. Diffuse infiltrating retinoblastoma simulating uveitis in a 7-year-old boy. Arch. Ophthalmol. 2000; 118: 442-3.Brisse H.J., Lumbroso L., Fréneaux P.C., Validire P., Doz F.P., Quintana E.J. et al. Sonographic, CT, and MR imaging findings in diffuse infiltrative retinoblastoma: report of two cases with histologic comparison. Am. J. Neuroradiol. 2001; 22: 499-504.Khetan V., Sudrik S., Singh S., Gopal L., Krishnakumar S. Diffuse anterior retinoblastoma with undetectable retinal involvement. J. Pediatr. Ophthalmol. Strabismus. 2011; 48е 7-9.Khanfir K., Chompret A., Frau E., Bloch-Michel E., Tursz T., Le Cesne A. An unusual variant of diffuse retinoblastoma in an adult. Acta Oncol. 2008; 47: 973-4.Kase S., Yoshida K., Suzuki S., Ohshima K., Ohno S., Ishida S. Diffuse infiltrating retinoblastoma invading subarachnoid space. Clin. Ophthalmol. 2011; 5: 861-3.Saket R.R., Mafee M.F. Anterior-segment retinoblastoma mimicking pseudoinflammatory angle-closure glaucoma: review of the literature and the important role of imaging. Am. J. Neuroradiol. 2009; 30: 1607-9.Tuncer S., Peksayar G., Kebudi R., Tugal-Tutkun I., Buyukbabani N., Darendeliler E. Multiple anterior and posterior chamber pseudocysts in a 12-year-old boy with diffuse infiltrating retinoblastoma. J. Pediatr. Ophthalmol. Strabismus. 2009; 46: 312-6.Grossniklaus H.E., Dhaliwal R.S., Martin D.F. Diffuse anterior retinoblastoma. Retina. 1998; 18: 238-41.All-Ericsson C., Economou M.A., Landau I., Träisk F., Seregard S. Uveitis masquerade syndromes: diffuse retinoblastoma in an older child. Acta Ophthalmol. Scand. 2007; 85: 569-70.Schedler K.J., Traine P.G., Lohmann D.R., Haritoglou C., Metz K.A., Rodrigues E.B. Hereditary diffuse infiltrating retinoblastoma. Ophthalm. Genet. 2014; 3: 1-3.Crosby M.B., Hubbard G.B., Gallie B.L., Grossniklaus H.E. Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining. Arch. Pathol. Lab. Med. 2009; 133: 1215-8.Ghassemi F., Ghadimi H., Amoli F.A., Esfahani M.R., Tavakoli V., Fariba G. Diffuse infiltrating retinoblastoma coexisting with ocular toxoplasmosis. Int Ophthalmol. 2014; 34: 137-40.Mansour A.M., Greenwald M.J., O’Grady R. Diffuse infiltrating retinolastoma. J. Pediatr. Ophthalmol. Strabismus. 1989; 26: 152-4.Nicholson D.H., Norton E.W.D. Diffuse infiltrating retinoblastoma. Trans. Am. Ophthalmol. Soc. 1980; 78: 265-89.Morgan G. Diffuse infiltrating retinoblastoma. Br. J. Ophthalmol. 1971; 55: 600-6.Liang J.C., Augsburger J.J., Shields J.A. Diffuse infiltrating retinoblastoma associated with persistent primary vitreous. J. Pediatr. Ophthalmol. Strabismus. 1985; 22: 31-3.Weizenblatt S. Differential diagnostic difficulties in atypical retinoblastoma. Report of a case. Arch. Ophthalmol. 1957; 58: 699-709.Ginsberg J., Spaulding A.G., Asbury T. Cystic retinoblastoma. Am. J. Ophthalmol. 1975; 80: 930-4.Garner A., Kanski J.J., Kinnear F. Retinoblastoma: report of a case with minimal retinal involvement but massive anterior segment spread. Br. J. Ophthalmol. 1987; 71: 858-63.Croxatto J.O., Fernandez Meijide R., Malbran E.S. Retinoblastoma masquerading as ocular inflammation. Ophthalmologica. 1983; 186: 48-53.Manschot W.A. Difficulties in the clinical diagnosis of retinoblastoma. Ophthalmologica. 1956; 132: 162-4.Schofield P.B. Diffuse infiltrating retinoblastoma. Br. J. Ophthalmol. 1960; 44: 35-41.Flick H., Schwab B. Das infiltrativ wachsende Retinoblastom - eine schwierige differential diagnose. Klin. Mbl. Augenheilk. 1980; 177: 220-4.Herwig M.C., Hubbard G.B., Wells J.R., Grossniklaus H.E. Diffuse anterior retinoblastoma. Ophthalmologe. 2011; 108: 969-72.Vázquez-Montiel I.C., Juárez-Echenique J.C., Rodríguez-Jurado R. Retinoblastoma infiltrativo difuso de presentatión poco frecuente. Caso clinico. Rev. Mex. Oftalmol. 2000; 74: 281-4.Epstein J., Shields C.L., Shields J.A. Trends in the management of retinoblastoma. Evaluation of 1196 consecutive eyes during 1974-2001. J. Pediatr. Ophthalmol. Strabismus. 2003; 40: 196-203.Pendergrass T.W., Davis S. Incidence of retinoblastoma in the United States. Arch. Ophthalmol. 1980; 98: 1204-10.Abramson D.H., Beaverson K., Sangani P., Vora R.A., Lee T.C., Hochberg H.M. Screening for retinoblastoma: presenting signs as prognosticators of patient and ocular survival. Pediatrics. 2003; 112: 1248-55.Ellsworth R.M. The practical management of retinoblastoma. Trans. Am. Ophthalmol. Soc. 1969; 67: 462-534.Kleinerman R.A., Tucker M.A., Tarone R.E., Abramson D.H., Seddon J.M., Stovall M. et al. Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: an extended follow-up. J. Clin. Oncol. 2005; 23: 2272-9.