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NFS-26. RB1-ALTERED SUBTYPE (GROUP A) PINEOBLASTOMA AS A PART OF «TRILATERAL RETINOBLASTOMA» PHENOMENON: NEURO-ONCOLOGICAL AND OPHTHALMIC-ONCOLOGICAL VIEWтезисы доклада
- Авторы: Levashov Andrey Sergeevich, Serov Yuriy Alexandrovich, Ushakova Tatyana Leonidovna, Stroganova Anna Mikhailovna, Ryzhova Marina Vladimirovna, Gorelyshev Sergey Kirillovich, Kadirov Shavkat Umidovich, Terentyeva Alexandra Igorevna, Grigoryeva Marina Vladimirovna, Polyakov Vladimir Georgievich, Gorovtsova Olga Valeryevna, Grigorenko Vasiliy Andreevich
- Сборник: Neuro-Oncology, Volume 26, Issue Supplement_4, June 2024
- Том: 26
- Тезисы
- Год издания: 2024
- Издательство: Oxford University Press on behalf of Mind Association
- Местоположение издательства: Oxford, England
- Первая страница: 169
- Последняя страница: 170
- DOI: 10.1093/neuonc/noae064.584
- Аннотация: BACKGROUND: RB1-altered subtype (Group A) pineoblastoma as a part of «Trilateral retinoblastoma» is an extremely rare phenomenon. But over the past 10 years, the incidence of this disease has been increasing. Optimal therapeutic strategy is unknown. The aim of this study was toestimate the incidence of this phenomenon among patients with retinoblastoma, age at onset of retinoblastoma/RB1-altered pineoblastoma andgenetic, gender, age predisposition. DESIGN/METHODS: From 2019 to 2023 years 256 pediatric patients with de novo retinoblastoma were treated in the FSBI «N.N.Blokhin National Medical Research Center of Oncology». RB1-altered pineoblastoma was revealed in 9 cases (3,5% of all patients, 9,5% among patients with bilateral retinoblastoma, 6,6% for patient withthe onset of retinoblastoma under the age of 12 months). Diagnosis was determined according to familial history, retinal camera and MRI data,histology, immunohistochemistry and Illumina Infinium methylation EPIC Bead Chip method (FFPE tumor samples), NGS and MLPA methods for detection of RB1 germline mutation status (blood samples). Therapeutic options for patients with RB1-altered subtype pineoblastoma were presentedas like–COGARET0321, like–HIT–MED2017/2020, selective intra-arterial chemotherapy, intravitreal chemotherapy, transpupillary thermotherapy, brachytherapy. RESULTS: Gender ratio was 1:2 (3 male and 6 female). In allcases, intraocular retinoblastoma was bilateral. Family history was revealed in two cases. Age at onset of retinoblastoma: less than 6 months in 8 cases, all cases less 2 years, median 3±1,9 months [1,5-20,5]. Median age at onset of RB1-altered subtype pineoblastoma was 20,5±7,3 months [1,5-57,5]. A synchronous variant of the disease was identified in 5 cases, metachronous in 4. Pineoblastoma of pineal region was detected in 7 cases, suprasellar region in 2. Six out of 9 patients are alive, median follow-up 16,5±5,1 months [1,5-43,0]. CONCLUSION: It is necessary to expand both regional and international interdisciplinary cooperation to develop an optimal algorithm for the diagnosis and treatment of this disease.
- Добавил в систему: Левашов Андрей Сергеевич