- Department of Ophthalmology, Shanghai Ninth People's Hospital Affiated to Shanghai Jiaotong University School of Medicine, Shanghai Key Laboratory of Orbital Diseases and Ocular Oncology, Shanghai 200025, China;
Fan Xianqun,
Email: drfanxianqun@126.com
Retinoblastoma (RB) is the most serious eye disease that causes blindness, disability and death in infant. Loss of tumor suppressor gene RB1 leads to tumorigenesis of RB. With continuous innovation and development of new methods, the management of retinoblastoma has experienced a dramatic change from enucleation, external radiotherapy, intravenous chemotherapy, to intra-arterial chemotherapy combined with local treatment, enabling a more favorable outcome for survival, salvage and vision. However, the pathogenesis of RB is unclear in many aspects, the rate of eyeball removal in children with advanced RB remains high, and the innovation of new treatment are needed to be further promoted. Therefore, the key to improve the overall treatment level of RB is to pay attention to the study on pathogenesis, early diagnosis and treatment, as well as strengthen multi-center clinical trials and translational medicine research.
Citation： Fan Xianqun. Pay attention to the research on the mechanism of retinoblastoma and the methods of diagnosis and treatment. Chinese Journal of Ocular Fundus Diseases, 2022, 38(3): 173-177. doi: 10.3760/cma.j.cn511434-20220315-00144 Copy
| 1. | Ellsworth RM. The practical management of retinoblastoma[J]. Trans Am Ophthalmol Soc, 1969, 67: 462-534. |
| 2. | Abramson DH, Beaverson KL, Chang ST, et al. Outcome following initial external beam radiotherapy in patients with Reese-Ellsworth group Vb retinoblastoma[J]. Arch Ophthalmol, 2004, 122(9): 1316-1323. DOI: 10.1001/archopht.122.9.1316. |
| 3. | Scott IU, Murray TG, Feuer WJ, et al. External beam radiotherapy in retinoblastoma: tumor control and comparison of 2 techniques[J]. Arch Ophthalmol, 1999, 117(6): 766-770. DOI: 10.1001/archopht.117.6.766. |
| 4. | Kleinerman RA, Tucker MA, Tarone RE, et al. Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: an extended follow-up[J]. J Clin Oncol, 2005, 23(10): 2272-2279. DOI: 10.1200/JCO.2005.05.054. |
| 5. | Marees T, Moll AC, Imhof SM, et al. Risk of second malignancies in survivors of retinoblastoma: more than 40 years of follow-up[J]. J Natl Cancer Inst, 2008, 100(24): 1771-1779. DOI: 10.1093/jnci/djn394. |
| 6. | Munier FL, Beck-Popovic M, Chantada GL, et al. Conservative management of retinoblastoma: challenging orthodoxy without compromising the state of metastatic grace. "Alive, with good vision and no comorbidity"[J/OL]. Prog Retin Eye Res, 2019, 73: 100764[2019-06-05]. https://pubmed.ncbi.nlm.nih.gov/31173880/. DOI: 10.1016/j.preteyeres.2019.05.005. |
| 7. | Shields CL, De Potter P, Himelstein BP, et al. Chemoreduction in the initial management of intraocular retinoblastoma[J]. Arch Ophthalmol, 1996, 114(11): 1330-1338. DOI: 10.1001/archopht.1996.01100140530002. |
| 8. | Greenwald MJ, Strauss LC. Treatment of intraocular retinoblastoma with carboplatin and etoposide chemotherapy[J]. Ophthalmology, 1996, 103(12): 1989-1997. DOI: 10.1016/s0161-6420(96)30395-3. |
| 9. | Murphree AL, Villablanca JG, Deegan WF 3rd, et al. Chemotherapy plus local treatment in the management of intraocular retinoblastoma[J]. Arch Ophthalmol, 1996, 114(11): 1348-1356. DOI: 10.1001/archopht.1996.01100140548005. |
| 10. | Yamane T, Kaneko A, Mohri M. The technique of ophthalmic arterial infusion therapy for patients with intraocular retinoblastoma[J]. Int J Clin Oncol, 2004, 9(2): 69-73. DOI: 10.1007/s10147-004-0392-6. |
| 11. | Abramson DH, Dunkel IJ, Brodie SE, et al. A phase Ⅰ/Ⅱ study of direct intraarterial (ophthalmic artery) chemotherapy with melphalan for intraocular retinoblastoma initial results[J]. Ophthalmology, 2008, 115(8): 1398-1404. DOI: 10.1016/j.ophtha.2007.12.014. |
| 12. | Munier FL, Gaillard MC, Balmer A, et al. Intravitreal chemotherapy for vitreous disease in retinoblastoma revisited: from prohibition to conditional indications[J]. Br J Ophthalmol, 2012, 96(8): 1078-1083. DOI: 10.1136/bjophthalmol-2011-301450. |
| 13. | Luo Y, Zhou C, He F, et al. Contemporary update of retinoblastoma in China: three-decade changes in epidemiology, clinical features, treatments, and outcomes[J]. Am J Ophthalmol, 2021, 236: 193-203. DOI: 10.1016/j.ajo.2021.09.026. |
| 14. | Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma[J]. Proc Natl Acad Sci USA, 1971, 68(4): 820-823. DOI: 10.1073/pnas.68.4.820. |
| 15. | Xu XL, Singh HP, Wang L, et al. Rb suppresses human cone-precursor-derived retinoblastoma tumours[J]. Nature, 2014, 514(7522): 385-388. DOI: 10.1038/nature13813. |
| 16. | Friend SH, Bernards R, Rogelj S, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma[J]. Nature, 1986, 323(6089): 643-646. DOI: 10.1038/323643a0. |
| 17. | Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma[J]. Genes Chromosomes Cancer, 2007, 46(7): 617-634. DOI: 10.1002/gcc.20457. |
| 18. | Rushlow DE, Mol BM, Kennett JY, et al. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies[J]. Lancet Oncol, 2013, 14(4): 327-334. DOI: 10.1016/S1470-2045(13)70045-7. |
| 19. | Chai P, Jia R, Li Y, et al. Regulation of epigenetic homeostasis in uveal melanoma and retinoblastoma[J/OL]. Prog Retin Eye Res, 2021: 101030(2022-03-14)[2021-12-01]. https://pubmed.ncbi.nlm.nih.gov/34861419/. DOI: 10.1016/j.preteyeres.2021.101030. [published online ahead of print]. |
| 20. | Zhao J, Li Q, Feng ZX, et al. Tylectomy safety in salvage of eyes with retinoblastoma[J/OL]. Cancers (Basel), 2021, 13(22): 5862[2021-11-02]. https://pubmed.ncbi.nlm.nih.gov/34831013/. DOI: 10.3390/cancers13225862. |
| 21. | Zhou M, Wen X, Jia S, et al. Risk factors for ophthalmic artery stenosis and occlusion in patients with retinoblastoma treated with intra-arterial chemotherapy[J/OL]. Br J Ophthalmol, 2021, bjophthalmol-2021-319118(2022-03-15)[2021-05-26]. https://pubmed.ncbi.nlm.nih.gov/34039564/. DOI: 10.1136/bjophthalmol-2021-319118. |
| 22. | Cornish EE, Xiao M, Yang Z, et al. The role of opsin expression and apoptosis in determination of cone types in human retina[J]. Exp Eye Res, 2004, 78(6): 1143-1154. DOI: 10.1016/j.exer.2004.01.004. |
| 23. | Xu XL, Fang Y, Lee TC, et al. Retinoblastoma has properties of a cone precursor tumor and depends upon cone-specific MDM2 signaling[J]. Cell, 2009, 137(6): 1018-1031. DOI: 10.1016/j.cell.2009.03.051. |
| 24. | Xu XL, Lee TC, Offor N, et al. Tumor-associated retinal astrocytes promote retinoblastoma cell proliferation through production of IGFBP-5[J]. Am J Pathol, 2010, 177(1): 424-435. DOI: 10.2353/ajpath.2010.090512. |
| 25. | Berry JL, Cobrinik D, Kim JW. Detection and intraretinal localization of an 'invisible' retinoblastoma using optical coherence tomography[J]. Ocul Oncol Pathol, 2016, 2(3): 148-152. DOI: 10.1159/000442167. |
| 26. | Rootman DB, Gonzalez E, Mallipatna A, et al. Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations[J]. Br J Ophthalmol, 2013, 97(1): 59-65. DOI: 10.1136/bjophthalmol-2012-302133. |
| 27. | Kooi IE, Mol BM, Massink MP, et al. A meta-analysis of retinoblastoma copy numbers refines the list of possible driver genes involved in tumor progression[J/OL]. PLoS One, 2016, 11(4): e0153323[2016-04-26]. https://pubmed.ncbi.nlm.nih.gov/27115612/. DOI: 10.1371/journal.pone.0153323. |
| 28. | Berry JL, Xu L, Murphree AL, et al. Potential of aqueous humor as a surrogate tumor biopsy for retinoblastoma[J]. JAMA Ophthalmol, 2017, 135(11): 1221-1230. DOI: 10.1001/jamaophthalmol.2017.4097. |
| 29. | Saengwimol D, Chittavanich P, Laosillapacharoen N, et al. Silencing of the long noncoding RNA MYCNOS1 suppresses activity of MYCN-amplified retinoblastoma without RB1 mutation[J]. Invest Ophthalmol Vis Sci, 2020, 61(14): 8. DOI: 10.1167/iovs.61.14.8. |
| 30. | Zhang J, Benavente CA, McEvoy J, et al. A novel retinoblastoma therapy from genomic and epigenetic analyses[J]. Nature, 2012, 481(7381): 329-334. DOI: 10.1038/nature10733. |
| 31. | Chai P, Jia R, Jia R, et al. Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis[J]. Nucleic Acids Res, 2018, 46(12): 6041-6056. DOI: 10.1093/nar/gky366. |
| 32. | Abramson DH, Gombos DS. The topography of bilateral retinoblastoma lesions[J]. Retina, 1996, 16(3): 232-239. DOI: 10.1097/00006982-199616030-00009. |
| 33. | Munier F, Pescia G, Jotterand-Bellomo M, et al. Constitutional karyotype in retinoblastoma. Case report and review of literature[J]. Ophthalmic Paediatr Genet, 1989, 10(2): 129-150. DOI: 10.3109/13816818909088353. |
| 34. | Sippel KC, Fraioli RE, Smith GD, et al. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling[J]. Am J Hum Genet, 1998, 62(3): 610-619. DOI: 10.1086/301766. |
| 35. | Schuler A, Weber S, Neuhauser M, et al. Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect[J]. Eur J Cancer, 2005, 41(5): 735-740. DOI: 10.1016/j.ejca.2004.12.022. |
| 36. | Liu W, Luo Y, Dai J, et al. Monitoring retinoblastoma by machine learning of aqueous humor metabolic fingerprinting[J/OL]. Small Methods, 2022, 6:e2101220[2021-12-02]. https://onlinelibrary.wiley.com/doi/epdf/10.1002/smtd.202101220. DOI: 10.1002/smtd.202101220. |
| 37. | Abramson DH, Daniels AB, Marr BP, et al. Intra-arterial chemotherapy (ophthalmic artery chemosurgery) for group D retinoblastoma[J/OL]. PLoS One, 2016, 11: e0146582[2016-01-12]. https://pubmed.ncbi.nlm.nih.gov/26756643/. DOI: 10.1371/journal.pone.0146582. |
| 38. | Shields CL, Manjandavida FP, Lally SE, et al. Intra-arterial chemotherapy for retinoblastoma in 70 eyes: outcomes based on the international classification of retinoblastoma[J]. Ophthalmology, 2014, 121(7): 1453-1460. DOI: 10.1016/j.ophtha.2014.01.026. |
| 39. | Abramson DH, Fabius AW, Francis JH, et al. Ophthalmic artery chemosurgery for eyes with advanced retinoblastoma[J]. Ophthalmic Genet, 2017, 38(1): 16-21. DOI: 10.1080/13816810.2016.1244695. |
| 40. | Francis JH, Roosipu N, Levin AM, et al. Current treatment of bilateral retinoblastoma: the impact of intraarterial and intravitreous chemotherapy[J]. Neoplasia, 2018, 20(8): 757-763. DOI: 10.1016/j.neo.2018.05.007. |
| 41. | Chen M, Jiang H, Zhang J, et al. Outcome of intra-arterial chemotherapy for retinoblastoma and its influencing factors: a retrospective study[J]. Acta Ophthalmol, 2017, 95(6): 613-618. DOI: 10.1111/aos.13333. |
| 42. | Jia S, Wen X, Zhou M, et al. Comparison of intra-arterial chemotherapy efficacy delivered through the ophthalmic artery or external carotid artery in a cohort of retinoblastoma patients[J/OL]. Front Med (Lausanne), 2021, 8: 658305[2021-06-11]. https://pubmed.ncbi.nlm.nih.gov/34179043/. DOI: 10.3389/fmed.2021.658305. |
| 43. | Wyse E, Handa JT, Friedman AD, et al. A review of the literature for intra-arterial chemotherapy used to treat retinoblastoma[J]. Pediatr Radiol, 2016, 46(9): 1223-1233. DOI: 10.1007/s00247-016-3554-6. |
| 44. | Dalvin LA, Ancona-Lezama D, Lucio-Alvarez JA, et al. Ophthalmic vascular events after primary unilateral intra-arterial chemotherapy for retinoblastoma in early and recent eras[J]. Ophthalmology, 2018, 125(11): 1803-1811. DOI: 10.1016/j.ophtha.2018.05.013. |
| 45. | Stathopoulos C, Bartolini B, Marie G, et al. Risk factors for acute choroidal ischemia after intra-arterial melphalan for retinoblastoma: the role of the catheterization approach[J]. Ophthalmology, 2021, 128(5): 754-764. DOI: 10.1016/j.ophtha.2020.09.021. |
| 46. | Baroni LV, Sampor C, Fandino A, et al. Anterior segment invasion in retinoblastoma: is it a risk factor for extraocular relapse?[J/OL]. J Pediatr Hematol Oncol, 2014, 36(8): e509-e512[2014-11-01]. https://pubmed.ncbi.nlm.nih.gov/24732059/. DOI: 10.1097/MPH.0000000000000167. |
| 47. | Sreelakshmi KV, Chandra A, Krishnakumar S, et al. Anterior chamber invasion in retinoblastoma: not an indication for adjuvant chemotherapy[J]. Invest Ophthalmol Vis Sci, 2017, 58(11): 4654-4661. DOI: 10.1167/iovs.17-22111. |
| 48. | Munier FL, Gaillard MC, Decembrini S, et al. Intracameral chemotherapy (melphalan) for aqueous seeding in retinoblastoma: bicameral injection technique and related toxicity in a pilot case study[J]. Ocul Oncol Pathol, 2017, 3(2): 149-155. DOI: 10.1159/000453617. |
| 49. | Munier FL, Moulin A, Gaillard MC, et al. Intracameral chemotherapy for globe salvage in retinoblastoma with secondary anterior chamber invasion[J]. Ophthalmology, 2018, 125(4): 615-617. DOI: 10.1016/j.ophtha.2017.11.010. |
| 50. | Shields CL, Honavar S, Shields JA, et al. Vitrectomy in eyes with unsuspected retinoblastoma[J]. Ophthalmology, 2000, 107(12): 2250-2255. DOI: 10.1016/s0161-6420(00)00427-9. |
| 51. | Zhao J, Li Q, Wu S, et al. Pars plana vitrectomy and endoresection of refractory intraocular retinoblastoma[J]. Ophthalmology, 2018, 125(2): 320-322. DOI: 10.1016/j.ophtha.2017.10.015. |
- 1. Ellsworth RM. The practical management of retinoblastoma[J]. Trans Am Ophthalmol Soc, 1969, 67: 462-534.
- 2. Abramson DH, Beaverson KL, Chang ST, et al. Outcome following initial external beam radiotherapy in patients with Reese-Ellsworth group Vb retinoblastoma[J]. Arch Ophthalmol, 2004, 122(9): 1316-1323. DOI: 10.1001/archopht.122.9.1316.
- 3. Scott IU, Murray TG, Feuer WJ, et al. External beam radiotherapy in retinoblastoma: tumor control and comparison of 2 techniques[J]. Arch Ophthalmol, 1999, 117(6): 766-770. DOI: 10.1001/archopht.117.6.766.
- 4. Kleinerman RA, Tucker MA, Tarone RE, et al. Risk of new cancers after radiotherapy in long-term survivors of retinoblastoma: an extended follow-up[J]. J Clin Oncol, 2005, 23(10): 2272-2279. DOI: 10.1200/JCO.2005.05.054.
- 5. Marees T, Moll AC, Imhof SM, et al. Risk of second malignancies in survivors of retinoblastoma: more than 40 years of follow-up[J]. J Natl Cancer Inst, 2008, 100(24): 1771-1779. DOI: 10.1093/jnci/djn394.
- 6. Munier FL, Beck-Popovic M, Chantada GL, et al. Conservative management of retinoblastoma: challenging orthodoxy without compromising the state of metastatic grace. "Alive, with good vision and no comorbidity"[J/OL]. Prog Retin Eye Res, 2019, 73: 100764[2019-06-05]. https://pubmed.ncbi.nlm.nih.gov/31173880/. DOI: 10.1016/j.preteyeres.2019.05.005.
- 7. Shields CL, De Potter P, Himelstein BP, et al. Chemoreduction in the initial management of intraocular retinoblastoma[J]. Arch Ophthalmol, 1996, 114(11): 1330-1338. DOI: 10.1001/archopht.1996.01100140530002.
- 8. Greenwald MJ, Strauss LC. Treatment of intraocular retinoblastoma with carboplatin and etoposide chemotherapy[J]. Ophthalmology, 1996, 103(12): 1989-1997. DOI: 10.1016/s0161-6420(96)30395-3.
- 9. Murphree AL, Villablanca JG, Deegan WF 3rd, et al. Chemotherapy plus local treatment in the management of intraocular retinoblastoma[J]. Arch Ophthalmol, 1996, 114(11): 1348-1356. DOI: 10.1001/archopht.1996.01100140548005.
- 10. Yamane T, Kaneko A, Mohri M. The technique of ophthalmic arterial infusion therapy for patients with intraocular retinoblastoma[J]. Int J Clin Oncol, 2004, 9(2): 69-73. DOI: 10.1007/s10147-004-0392-6.
- 11. Abramson DH, Dunkel IJ, Brodie SE, et al. A phase Ⅰ/Ⅱ study of direct intraarterial (ophthalmic artery) chemotherapy with melphalan for intraocular retinoblastoma initial results[J]. Ophthalmology, 2008, 115(8): 1398-1404. DOI: 10.1016/j.ophtha.2007.12.014.
- 12. Munier FL, Gaillard MC, Balmer A, et al. Intravitreal chemotherapy for vitreous disease in retinoblastoma revisited: from prohibition to conditional indications[J]. Br J Ophthalmol, 2012, 96(8): 1078-1083. DOI: 10.1136/bjophthalmol-2011-301450.
- 13. Luo Y, Zhou C, He F, et al. Contemporary update of retinoblastoma in China: three-decade changes in epidemiology, clinical features, treatments, and outcomes[J]. Am J Ophthalmol, 2021, 236: 193-203. DOI: 10.1016/j.ajo.2021.09.026.
- 14. Knudson AG Jr. Mutation and cancer: statistical study of retinoblastoma[J]. Proc Natl Acad Sci USA, 1971, 68(4): 820-823. DOI: 10.1073/pnas.68.4.820.
- 15. Xu XL, Singh HP, Wang L, et al. Rb suppresses human cone-precursor-derived retinoblastoma tumours[J]. Nature, 2014, 514(7522): 385-388. DOI: 10.1038/nature13813.
- 16. Friend SH, Bernards R, Rogelj S, et al. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma[J]. Nature, 1986, 323(6089): 643-646. DOI: 10.1038/323643a0.
- 17. Corson TW, Gallie BL. One hit, two hits, three hits, more? Genomic changes in the development of retinoblastoma[J]. Genes Chromosomes Cancer, 2007, 46(7): 617-634. DOI: 10.1002/gcc.20457.
- 18. Rushlow DE, Mol BM, Kennett JY, et al. Characterisation of retinoblastomas without RB1 mutations: genomic, gene expression, and clinical studies[J]. Lancet Oncol, 2013, 14(4): 327-334. DOI: 10.1016/S1470-2045(13)70045-7.
- 19. Chai P, Jia R, Li Y, et al. Regulation of epigenetic homeostasis in uveal melanoma and retinoblastoma[J/OL]. Prog Retin Eye Res, 2021: 101030(2022-03-14)[2021-12-01]. https://pubmed.ncbi.nlm.nih.gov/34861419/. DOI: 10.1016/j.preteyeres.2021.101030. [published online ahead of print].
- 20. Zhao J, Li Q, Feng ZX, et al. Tylectomy safety in salvage of eyes with retinoblastoma[J/OL]. Cancers (Basel), 2021, 13(22): 5862[2021-11-02]. https://pubmed.ncbi.nlm.nih.gov/34831013/. DOI: 10.3390/cancers13225862.
- 21. Zhou M, Wen X, Jia S, et al. Risk factors for ophthalmic artery stenosis and occlusion in patients with retinoblastoma treated with intra-arterial chemotherapy[J/OL]. Br J Ophthalmol, 2021, bjophthalmol-2021-319118(2022-03-15)[2021-05-26]. https://pubmed.ncbi.nlm.nih.gov/34039564/. DOI: 10.1136/bjophthalmol-2021-319118.
- 22. Cornish EE, Xiao M, Yang Z, et al. The role of opsin expression and apoptosis in determination of cone types in human retina[J]. Exp Eye Res, 2004, 78(6): 1143-1154. DOI: 10.1016/j.exer.2004.01.004.
- 23. Xu XL, Fang Y, Lee TC, et al. Retinoblastoma has properties of a cone precursor tumor and depends upon cone-specific MDM2 signaling[J]. Cell, 2009, 137(6): 1018-1031. DOI: 10.1016/j.cell.2009.03.051.
- 24. Xu XL, Lee TC, Offor N, et al. Tumor-associated retinal astrocytes promote retinoblastoma cell proliferation through production of IGFBP-5[J]. Am J Pathol, 2010, 177(1): 424-435. DOI: 10.2353/ajpath.2010.090512.
- 25. Berry JL, Cobrinik D, Kim JW. Detection and intraretinal localization of an 'invisible' retinoblastoma using optical coherence tomography[J]. Ocul Oncol Pathol, 2016, 2(3): 148-152. DOI: 10.1159/000442167.
- 26. Rootman DB, Gonzalez E, Mallipatna A, et al. Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations[J]. Br J Ophthalmol, 2013, 97(1): 59-65. DOI: 10.1136/bjophthalmol-2012-302133.
- 27. Kooi IE, Mol BM, Massink MP, et al. A meta-analysis of retinoblastoma copy numbers refines the list of possible driver genes involved in tumor progression[J/OL]. PLoS One, 2016, 11(4): e0153323[2016-04-26]. https://pubmed.ncbi.nlm.nih.gov/27115612/. DOI: 10.1371/journal.pone.0153323.
- 28. Berry JL, Xu L, Murphree AL, et al. Potential of aqueous humor as a surrogate tumor biopsy for retinoblastoma[J]. JAMA Ophthalmol, 2017, 135(11): 1221-1230. DOI: 10.1001/jamaophthalmol.2017.4097.
- 29. Saengwimol D, Chittavanich P, Laosillapacharoen N, et al. Silencing of the long noncoding RNA MYCNOS1 suppresses activity of MYCN-amplified retinoblastoma without RB1 mutation[J]. Invest Ophthalmol Vis Sci, 2020, 61(14): 8. DOI: 10.1167/iovs.61.14.8.
- 30. Zhang J, Benavente CA, McEvoy J, et al. A novel retinoblastoma therapy from genomic and epigenetic analyses[J]. Nature, 2012, 481(7381): 329-334. DOI: 10.1038/nature10733.
- 31. Chai P, Jia R, Jia R, et al. Dynamic chromosomal tuning of a novel GAU1 lncing driver at chr12p13.32 accelerates tumorigenesis[J]. Nucleic Acids Res, 2018, 46(12): 6041-6056. DOI: 10.1093/nar/gky366.
- 32. Abramson DH, Gombos DS. The topography of bilateral retinoblastoma lesions[J]. Retina, 1996, 16(3): 232-239. DOI: 10.1097/00006982-199616030-00009.
- 33. Munier F, Pescia G, Jotterand-Bellomo M, et al. Constitutional karyotype in retinoblastoma. Case report and review of literature[J]. Ophthalmic Paediatr Genet, 1989, 10(2): 129-150. DOI: 10.3109/13816818909088353.
- 34. Sippel KC, Fraioli RE, Smith GD, et al. Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling[J]. Am J Hum Genet, 1998, 62(3): 610-619. DOI: 10.1086/301766.
- 35. Schuler A, Weber S, Neuhauser M, et al. Age at diagnosis of isolated unilateral retinoblastoma does not distinguish patients with and without a constitutional RB1 gene mutation but is influenced by a parent-of-origin effect[J]. Eur J Cancer, 2005, 41(5): 735-740. DOI: 10.1016/j.ejca.2004.12.022.
- 36. Liu W, Luo Y, Dai J, et al. Monitoring retinoblastoma by machine learning of aqueous humor metabolic fingerprinting[J/OL]. Small Methods, 2022, 6:e2101220[2021-12-02]. https://onlinelibrary.wiley.com/doi/epdf/10.1002/smtd.202101220. DOI: 10.1002/smtd.202101220.
- 37. Abramson DH, Daniels AB, Marr BP, et al. Intra-arterial chemotherapy (ophthalmic artery chemosurgery) for group D retinoblastoma[J/OL]. PLoS One, 2016, 11: e0146582[2016-01-12]. https://pubmed.ncbi.nlm.nih.gov/26756643/. DOI: 10.1371/journal.pone.0146582.
- 38. Shields CL, Manjandavida FP, Lally SE, et al. Intra-arterial chemotherapy for retinoblastoma in 70 eyes: outcomes based on the international classification of retinoblastoma[J]. Ophthalmology, 2014, 121(7): 1453-1460. DOI: 10.1016/j.ophtha.2014.01.026.
- 39. Abramson DH, Fabius AW, Francis JH, et al. Ophthalmic artery chemosurgery for eyes with advanced retinoblastoma[J]. Ophthalmic Genet, 2017, 38(1): 16-21. DOI: 10.1080/13816810.2016.1244695.
- 40. Francis JH, Roosipu N, Levin AM, et al. Current treatment of bilateral retinoblastoma: the impact of intraarterial and intravitreous chemotherapy[J]. Neoplasia, 2018, 20(8): 757-763. DOI: 10.1016/j.neo.2018.05.007.
- 41. Chen M, Jiang H, Zhang J, et al. Outcome of intra-arterial chemotherapy for retinoblastoma and its influencing factors: a retrospective study[J]. Acta Ophthalmol, 2017, 95(6): 613-618. DOI: 10.1111/aos.13333.
- 42. Jia S, Wen X, Zhou M, et al. Comparison of intra-arterial chemotherapy efficacy delivered through the ophthalmic artery or external carotid artery in a cohort of retinoblastoma patients[J/OL]. Front Med (Lausanne), 2021, 8: 658305[2021-06-11]. https://pubmed.ncbi.nlm.nih.gov/34179043/. DOI: 10.3389/fmed.2021.658305.
- 43. Wyse E, Handa JT, Friedman AD, et al. A review of the literature for intra-arterial chemotherapy used to treat retinoblastoma[J]. Pediatr Radiol, 2016, 46(9): 1223-1233. DOI: 10.1007/s00247-016-3554-6.
- 44. Dalvin LA, Ancona-Lezama D, Lucio-Alvarez JA, et al. Ophthalmic vascular events after primary unilateral intra-arterial chemotherapy for retinoblastoma in early and recent eras[J]. Ophthalmology, 2018, 125(11): 1803-1811. DOI: 10.1016/j.ophtha.2018.05.013.
- 45. Stathopoulos C, Bartolini B, Marie G, et al. Risk factors for acute choroidal ischemia after intra-arterial melphalan for retinoblastoma: the role of the catheterization approach[J]. Ophthalmology, 2021, 128(5): 754-764. DOI: 10.1016/j.ophtha.2020.09.021.
- 46. Baroni LV, Sampor C, Fandino A, et al. Anterior segment invasion in retinoblastoma: is it a risk factor for extraocular relapse?[J/OL]. J Pediatr Hematol Oncol, 2014, 36(8): e509-e512[2014-11-01]. https://pubmed.ncbi.nlm.nih.gov/24732059/. DOI: 10.1097/MPH.0000000000000167.
- 47. Sreelakshmi KV, Chandra A, Krishnakumar S, et al. Anterior chamber invasion in retinoblastoma: not an indication for adjuvant chemotherapy[J]. Invest Ophthalmol Vis Sci, 2017, 58(11): 4654-4661. DOI: 10.1167/iovs.17-22111.
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