Clinical features, treatment and prognosis analysis of the asymptomatic patients with retinoblastoma_Chinese Journal of Ocular Fundus Diseases

Authors：

Yi Xiuqian , Zhou Xiaoting , Qian Jiang , Ren Hui ,  Xue Kang

Department of Ophthalmology, The Eye-ENT Hospital of Fudan University, Shanghai 200031, China;

Corresponding?author：

Xue Kang, Email: xuekang@foxmail.com

Keywords：

Retinoblastoma; Follow-up studies; Fundus screening

DOI：

10.3760/cma.j.cn511434-20200709-00329

Video：

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Objective To analyze the clinical features, treatment and prognosis of asymptomatic patients with retinoblastoma.Methods A retrospective series of case study. Eight asymptomatic patients (11 eyes) with the diagnosis of retinoblastoma by screening enrolled in Department of Ophthalmology of The Eye-ENT Hospital of Fudan University from January 2006 to March 2019 were included. There were 6 males and 3 females ranging from 2 days to 20 months, with a median age of 6 months. Five patients were unilateral retinoblastoma while 3 patients were bilateral. Based on the International Classification of Intraocular Retinoblastoma, 4 eyes were stage A, 3 eyes were stage B and 4 eyes were stage C. One patient had family history. Four patients were evaluated the Rb1 mutation. Routine ophthalmic examinations and ultra-wide field fundus imaging were performed on the 16 parents and 3 siblings of the 8 patients. Systemic intravenous chemotherapy was performed using the Carboplatin, Vincristine, Etoposide protocol, intra-arterial chemotherapy using Carboplatin and Melphalan, and local treatment involved cryotherapy and transpupillary thermotherapy. The mean follow-up time is 47.25 months.Results None of the 8 children had any ocular symptoms. Six patients received intravenous chemotherapy (5-6 times), 1 patient received intra-arterial chemotherapy (3 times), and 1 patient just received local treatment. Among the 11 eyes, 9 eyes were treated with local cryotherapy and 8 eyes were treated with transpupillary thermotherapy. During the follow-up period, 2 patients had new tumor, and the average time was 6.3 months after the last chemotherapy. At the last follow-up, the tumor disappeared in 11 eyes, remained stable in 11 eyes. The eye protection rate was 100% (8/8) for patients without eyeball excision. The best corrected visual acuity was 0.1 for 3 eyes and 1.0 for 5 eyes. Three eyes were not found. One heterozygous mutation of Rb1 gene [1c.35_69del (p.T12fs)] was identified in 1 patient, and the other 3 patients were not detected. One had bilateral bulbar tuberculosis of the 16 parents, 1 had bilateral RB of the 3 siblings. They were the mother and brother of a child with bilateral RB.Conclusions Fundus screening is helpful for the detection of early RB. The eye protection rate is high and the long-term vision prognosis is good after systemic or topical chemical drugs (IVC, IAC) and ocular topical treatment (cryopreservation and transpupillary thermotherapy).

Citation： Yi Xiuqian, Zhou Xiaoting, Qian Jiang, Ren Hui, Xue Kang. Clinical features, treatment and prognosis analysis of the asymptomatic patients with retinoblastoma. Chinese Journal of Ocular Fundus Diseases, 2021, 37(3): 201-205. doi: 10.3760/cma.j.cn511434-20200709-00329 Copy

1.	Kivela T. The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death[J]. Br J Ophthalmol, 2009, 93(9): 1129-1131. DOI: 10.1136/bjo.2008.150292.
2.	Shields CL, Shields JA. Basic understanding of current classification and management of retinoblastoma[J]. Curr Opin Ophthalmol, 2006, 17(3): 228-234. DOI: 10.1097/01.icu.0000193079.55240.18.
3.	Gao J, Zeng J, Guo B, et al. Clinical presentation and treatment outcome of retinoblastoma in children of South Western China[J/OL]. Medicine (Baltimore), 2016, 95(42): e5204[2016-10-01]. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079341/. DOI: 10.1097/MD.0000000000005204.
4.	Gao YJ, Qian J, Yue H, et al. Clinical characteristics and treatment outcome of children with intraocular retinoblastoma: a report from a Chinese cooperative group[J]. Pediatr Blood Cancer, 2011, 57(7): 1113-1116. DOI: 10.1002/pbc.23002.
5.	Jain M, Rojanaporn D, Chawla B, et al. Retinoblastoma in Asia[J]. Eye (Lond), 2019, 33(1): 87-96. DOI: 10.1038/s41433-018-0244-7.
6.	Shields CL, Mashayekhi A, Au AK, et al. The International Classification of Retinoblastoma predicts chemoreduction success[J]. Ophthalmology, 2006, 113(12): 2276-2280. DOI: 10.1016/j.ophtha.
7.	錢江, 薛康. 晚期視網膜母細胞瘤可否保眼治療[J]. 中華眼科雜志, 2016, 52(10): 728-732. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.003.Qian J, Xue K. Eyeball salvage treatment or enucleation for advanced retinoblastoma[J]. Chin J Ophthalmol, 2016, 52(10): 728-732. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.003.
8.	Chawla B, Jain A, Azad R. Conservative treatment modalities in retinoblastoma[J]. Indian J Ophthalmol, 2013, 61(9): 479-485. DOI: 10.4103/0301-4738.119424.
9.	Abramson DH. Retinoblastoma in the 20th century: past success and future challenges the Weisenfeld lecture[J]. Invest Ophthalmol Vis Sci, 2005, 46(8): 2683-2691. DOI: 10.1167/iovs.04-1462.
10.	Skalet AH, Gombos DS, Gallie BL, et al. Screening children at risk for retinoblastoma: consensus report from the American Association of Ophthalmic Oncologists and Pathologists[J]. Ophthalmology, 2018, 125(3): 453-458. DOI: 10.1016/j.ophtha.2017.09.001.
11.	Rothschild PR, Levy D, Savignoni A, et al. Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study[J]. Eye (Lond), 2011, 25(12): 1555-1561. DOI: 10.1038/eye.2011.198.
12.	Xu K, Rosenwaks Z, Beaverson K, et al. Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn[J]. Am J Ophthalmol, 2004, 137(1): 18-23. DOI: 10.1016/s0002-9394(03)00872-9.
13.	Stathopoulos C, Say EAT, Shields CL. Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma[J]. Graefe's Arch Clin Exp Ophthalmol, 2018, 256(4): 861-862. DOI: 10.1007/s00417-017-3841-4.
14.	Staffieri SE, McGillivray G, Elder JE, et al. Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI[J]. Prenat Diagn, 2015, 35(2): 174-178. DOI: 10.1002/pd.4514.
15.	中華醫學會眼科學分會眼底病學組, 中華醫學會兒科學分會眼科學組, 中華醫學會眼科學分會眼整形眼眶病學組. 中國視網膜母細胞瘤診斷和治療指南(2019年)[J]. 中華眼科雜志, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.Ocular Fundus Group of Ophthalmology Society of Chinese Medical Association, Ophthalmology Group of Pediatrics Branch of Chinese Medical Association, Ophthalmology and Orbital Surgery Group of Ophthalmology Society of Chinese Medical Association. Chinese guidelines for diagnosis and treatment of retinoblastoma[J]. Chin J Ophthalmol, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.
16.	項道滿, 賀平. 關于新生兒眼底篩查的專家共識[J]. 中國斜視與小兒眼科雜志, 2018, 26(3): 1-3. DOI: 10.3969/J.ISSN.1005-328X.2018.03.001.Xiang DM, He P. Expert consensus on neonatal fundus screening[J]. Chinese Journal of Strabismus & Pediatric Ophthalmology, 2018, 26(3): 1-3. DOI: 10.3969/J.ISSN.1005-328X.2018.03.001.
17.	Shields CL, Shields JA. New strategies in the treatment of unilateral sporadic retinoblastoma[J]. J Pediatr Ophthalmol Strabismus, 2015, 52(3): 134-137. DOI: 10.3928/01913913-20150427-01.
18.	Shields CL, Meadows AT, Shields JA, et al. Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma)[J]. Arch Ophthalmol, 2001, 119(9): 1269-1272. DOI: 10.1001/archopht.119.9.1269.
19.	Shields CL, Shelil A, Cater J, et al. Development of new retinoblastomas after 6 cycles of chemoreduction for retinoblastoma in 162 eyes of 106 consecutive patients[J]. Arch Ophthalmol, 2003, 121(11): 1571-1576. DOI: 10.1001/archopht.121.11.1571.
20.	Kaliki S, Gupta Rathi S, Patel A. Routine fundus screening of families of children with retinoblastoma: a prospective study of 131 consecutive families[J]. Retina, 2019, 39(7): 1326-1332. DOI: 10.1097/IAE.0000000000002134.
21.	Greger V, Passarge E, Hopping W, et al. Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma[J]. Hum Genet, 1989, 83(2): 155-158. DOI: 10.1007/BF00286709.

1. Kivela T. The epidemiological challenge of the most frequent eye cancer: retinoblastoma, an issue of birth and death[J]. Br J Ophthalmol, 2009, 93(9): 1129-1131. DOI: 10.1136/bjo.2008.150292.
2. Shields CL, Shields JA. Basic understanding of current classification and management of retinoblastoma[J]. Curr Opin Ophthalmol, 2006, 17(3): 228-234. DOI: 10.1097/01.icu.0000193079.55240.18.
3. Gao J, Zeng J, Guo B, et al. Clinical presentation and treatment outcome of retinoblastoma in children of South Western China[J/OL]. Medicine (Baltimore), 2016, 95(42): e5204[2016-10-01]. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5079341/. DOI: 10.1097/MD.0000000000005204.
4. Gao YJ, Qian J, Yue H, et al. Clinical characteristics and treatment outcome of children with intraocular retinoblastoma: a report from a Chinese cooperative group[J]. Pediatr Blood Cancer, 2011, 57(7): 1113-1116. DOI: 10.1002/pbc.23002.
5. Jain M, Rojanaporn D, Chawla B, et al. Retinoblastoma in Asia[J]. Eye (Lond), 2019, 33(1): 87-96. DOI: 10.1038/s41433-018-0244-7.
6. Shields CL, Mashayekhi A, Au AK, et al. The International Classification of Retinoblastoma predicts chemoreduction success[J]. Ophthalmology, 2006, 113(12): 2276-2280. DOI: 10.1016/j.ophtha.
7. 錢江, 薛康. 晚期視網膜母細胞瘤可否保眼治療[J]. 中華眼科雜志, 2016, 52(10): 728-732. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.003.Qian J, Xue K. Eyeball salvage treatment or enucleation for advanced retinoblastoma[J]. Chin J Ophthalmol, 2016, 52(10): 728-732. DOI: 10.3760/cma.j.issn.0412-4081.2016.10.003.
8. Chawla B, Jain A, Azad R. Conservative treatment modalities in retinoblastoma[J]. Indian J Ophthalmol, 2013, 61(9): 479-485. DOI: 10.4103/0301-4738.119424.
9. Abramson DH. Retinoblastoma in the 20th century: past success and future challenges the Weisenfeld lecture[J]. Invest Ophthalmol Vis Sci, 2005, 46(8): 2683-2691. DOI: 10.1167/iovs.04-1462.
10. Skalet AH, Gombos DS, Gallie BL, et al. Screening children at risk for retinoblastoma: consensus report from the American Association of Ophthalmic Oncologists and Pathologists[J]. Ophthalmology, 2018, 125(3): 453-458. DOI: 10.1016/j.ophtha.2017.09.001.
11. Rothschild PR, Levy D, Savignoni A, et al. Familial retinoblastoma: fundus screening schedule impact and guideline proposal. A retrospective study[J]. Eye (Lond), 2011, 25(12): 1555-1561. DOI: 10.1038/eye.2011.198.
12. Xu K, Rosenwaks Z, Beaverson K, et al. Preimplantation genetic diagnosis for retinoblastoma: the first reported liveborn[J]. Am J Ophthalmol, 2004, 137(1): 18-23. DOI: 10.1016/s0002-9394(03)00872-9.
13. Stathopoulos C, Say EAT, Shields CL. Prenatal ultrasonographic detection and prenatal (prior to birth) management of hereditary retinoblastoma[J]. Graefe's Arch Clin Exp Ophthalmol, 2018, 256(4): 861-862. DOI: 10.1007/s00417-017-3841-4.
14. Staffieri SE, McGillivray G, Elder JE, et al. Managing fetuses at high risk of retinoblastoma: lesion detection on screening MRI[J]. Prenat Diagn, 2015, 35(2): 174-178. DOI: 10.1002/pd.4514.
15. 中華醫學會眼科學分會眼底病學組, 中華醫學會兒科學分會眼科學組, 中華醫學會眼科學分會眼整形眼眶病學組. 中國視網膜母細胞瘤診斷和治療指南(2019年)[J]. 中華眼科雜志, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.Ocular Fundus Group of Ophthalmology Society of Chinese Medical Association, Ophthalmology Group of Pediatrics Branch of Chinese Medical Association, Ophthalmology and Orbital Surgery Group of Ophthalmology Society of Chinese Medical Association. Chinese guidelines for diagnosis and treatment of retinoblastoma[J]. Chin J Ophthalmol, 2019, 55(10): 726-738. DOI: 10.3760/cma.j.issn.0412-4081.2019.10.003.
16. 項道滿, 賀平. 關于新生兒眼底篩查的專家共識[J]. 中國斜視與小兒眼科雜志, 2018, 26(3): 1-3. DOI: 10.3969/J.ISSN.1005-328X.2018.03.001.Xiang DM, He P. Expert consensus on neonatal fundus screening[J]. Chinese Journal of Strabismus & Pediatric Ophthalmology, 2018, 26(3): 1-3. DOI: 10.3969/J.ISSN.1005-328X.2018.03.001.
17. Shields CL, Shields JA. New strategies in the treatment of unilateral sporadic retinoblastoma[J]. J Pediatr Ophthalmol Strabismus, 2015, 52(3): 134-137. DOI: 10.3928/01913913-20150427-01.
18. Shields CL, Meadows AT, Shields JA, et al. Chemoreduction for retinoblastoma may prevent intracranial neuroblastic malignancy (trilateral retinoblastoma)[J]. Arch Ophthalmol, 2001, 119(9): 1269-1272. DOI: 10.1001/archopht.119.9.1269.
19. Shields CL, Shelil A, Cater J, et al. Development of new retinoblastomas after 6 cycles of chemoreduction for retinoblastoma in 162 eyes of 106 consecutive patients[J]. Arch Ophthalmol, 2003, 121(11): 1571-1576. DOI: 10.1001/archopht.121.11.1571.
20. Kaliki S, Gupta Rathi S, Patel A. Routine fundus screening of families of children with retinoblastoma: a prospective study of 131 consecutive families[J]. Retina, 2019, 39(7): 1326-1332. DOI: 10.1097/IAE.0000000000002134.
21. Greger V, Passarge E, Hopping W, et al. Epigenetic changes may contribute to the formation and spontaneous regression of retinoblastoma[J]. Hum Genet, 1989, 83(2): 155-158. DOI: 10.1007/BF00286709.

Chinese Journal of Ocular Fundus Diseases

Clinical features, treatment and prognosis analysis of the asymptomatic patients with retinoblastoma

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