- Visibility 402 Views
- Downloads 427 Downloads
- Permissions
- DOI 10.18231/j.ijooo.v.11.i.2.5
-
CrossMark
Pediatric ocular tumors: Current perspectives and future directions
- Author Details:
-
Swapnil Phade
-
Sakshi Kakade
-
Prajakta Inamdar
-
Kishori Kokate
-
Pankaj Khuspe *
Pankaj Khuspe *
Retinoblastoma is the most common intraocular cancer among pediatric ocular malignancies, which include a wide range of benign and malignant neoplasms that impact children's ocular and periocular structures. Because of their rarity, histological heterogeneity, possibility for visual loss, and potential for life-threatening metastases, these tumors present considerable diagnostic and treatment problems. Particularly for retinoblastoma, where intra-arterial and intravitreal chemotherapy, in conjunction with focused therapies, have revolutionized management paradigms, developments in molecular genetics, imaging technologies, and therapeutic approaches have significantly improved results. Despite these developments, multidisciplinary care and close monitoring are still required due to long-term morbidity, the possibility of developing second primary cancers, and genetic implications. Precision medicine techniques, such as the creation of tailored treatments and immunotherapeutic tactics, have been made possible by new discoveries on the molecular and cellular pathophysiology of ocular malignancies. There is potential for early identification, risk assessment, and individualized treatment plans with the combination of genetic profiling and biomarker-driven diagnostics. Furthermore, advances in imaging methods, such new MRI protocols and optical coherence tomography, have improved diagnostic precision and less invasively monitored therapeutic response. In order to clarify tumor biology, find new therapeutic targets, and create less harmful, vision-preserving treatments, future directions highlight the necessity of cooperative research. International registries and pediatric-specific clinical trials are crucial for producing solid evidence to direct practice. Furthermore, using artificial intelligence in predictive modeling and image analysis could improve diagnosis and treatment even more. Improving patient outcomes and quality of life requires a thorough understanding of pediatric ocular malignancies, bolstered by translational research and technological innovation.
References
- Castillo-Jr BV, Kaufman L. Pediatric tumors of the eye and orbit. Pediatr Clin North Am. 2003;50(1):149–72.
- Rao AA, Naheedy JH, Chen JY, Robbins SL, Ramkumar HL. A clinical update and radiologic review of pediatric orbital and ocular tumors. J Oncol. 2013;2013:975908.
- Suleiman D, Iliyasu Y, Ahmed S, Liman A. Histopathologic spectrum of paediatric eye and ocular adnexal tumours: A 10-year review from a referral centre in Nigeria. Niger J Clin Pract. 2020;23(5):654–9.
- Jurdy L, Merks JH, Pieters BR, Mourits MP, Kloos RJHM, Strackee SD, et al. Orbital rhabdomyosarcomas: A review. Saudi J Ophthalmol. 2013;27(3):167–75.
- Kaur K, Patel BC. Retinoblastoma. [Updated 2025 Feb 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing;
- Byroju VV, Nadukkandy AS, Cordani M, Kumar LD. Retinoblastoma: present scenario and future challenges. Cell Commun Signal. 2023;21(1):226.
- Kajal S, Cui D, Winters R. Malignant Orbital Tumors. [Updated 2024 Apr 21]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025.
- Balmer A, Munier F. Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma. Clin Ophthalmol. 2007;1(4):431–9.
- Correa ZM, Berry JL. Review of retinoblastoma. American Academy of Ophthalmology. 2016. https://www.aao.org/education/disease-review/review-of- retinoblastoma
- Joshi RS, Surwade T, Rasal A. Rhabdomyosarcoma masquerading as orbital cellulitis. Indian J Ophthalmol. 2022;70(7):2739–41.
- Shah PK, Meeralakshmi P, Shanthi R, Saravanan VR, Kalpana N, Narendran V. Pigmented ciliary body medulloepithelioma in a newborn infant. Oman J Ophthalmol. 2017;10(3):257–8.
- Patel DR, Blair K, Patel BC. Ocular Melanoma. [Updated 2024 May 2]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025.
- Salma M, Salma EA, Yahya EH, Samia S, Ihssan HH, Sabrine D, et al. Orbital dermoid cyst in children: A case report. Radiol Case Rep. 2024;20(1):140-4.
- Koka K, Zeppieri M, Patel BC. Periocular Capillary Infantile Hemangiomas. [Updated 2024 Dec 11]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK538249/
- Das S, Dey MK, Devireddy R, Gartia MR. Biomarkers in Cancer Detection, Diagnosis, and Prognosis. Sensors. 2023;24(1):37.
- Kadakia A, Zhang J, Yao X, Zhou Q, Heiferman MJ. Ultrasound in ocular oncology: Technical advances, clinical applications, and limitations. Exp Biol Med (Maywood). 2023;248(5):371–79.
- De Graaf P, Göricke S, Rodjan F, Galluzzi P, Maeder P, Castelijns JA, et al. Guidelines for imaging retinoblastoma: imaging principles and MRI standardization. Pediatr Radiol. 2012;42(1):2–14.
- Spencer MA, Welch RJ, Shields CL. Hand-held Optical Coherence Tomography Monitoring of Submillimeter Retinoblastoma Treated with Indocyanine Green-enhanced Transpupillary Therapy. Middle East Afr J Ophthalmol. 2018;25(2):108–10.
- Lohmann DR, Gallie BL. Retinoblastoma. 2000 Jul 18 [Updated 2023 Sep 21]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025.
- Polski A, Xu L, Prabakar RK, et al. Cell-Free DNA Tumor Fraction in the Aqueous Humor Is Associated With Therapeutic Response in Retinoblastoma Patients. Transl Vis Sci Technol. 2020;9(10):30.
- Milman T, Grossniklaus HE, Goldman-Levy G, Kim JW, Shah R, Jubran R, et al. The 5th Edition of the World Health Organization Classification of Tumours of the Eye and Orbit. Ocul Oncol Pathol. 2023;9(3-4):71-95.
- Abbas, Z.; Rehman, S. An overview of cancer treatment modalities. In InTech eBooks; 2018. https://doi.org/10.5772/intechopen.76558
[Google Scholar] - Ancona-Lezama D, Dalvin LA, Shields CL. Modern treatment of retinoblastoma: A 2020 review. Indian J Ophthalmol. 2020;68(11):2356–65.
- Warda O, Naeem Z, Roelofs KA, Sagoo MS, Reddy MA. Retinoblastoma and vision. Eye (Lond). 2023;37(5):797-808.
- Lorigan P, Lee SM, Betticher D, Woodhead M, Weir D, Hanley S, et al. Chemotherapy with vincristine/ifosfamide/carboplatin/etoposide in small cell lung cancer. Semin Oncol. 1995;22(3 Suppl 7):32-41.
- Ghassemi F, Shields CL. Intravitreal melphalan for refractory or recurrent vitreous seeding from retinoblastoma. Arch Ophthalmol. 2012;130(10):1268–71.
- Berry JL, Kogachi K, Murphree AL, Jubran R, Kim JW. A Review of Recurrent Retinoblastoma: Children's Hospital Los Angeles Classification and Treatment Guidelines. Int Ophthalmol Clin. 2019;59(2):65-75.
- Mannor GE, Rose GE, Plowman PN, Kingston J, Wright JE, Vardy SJ. Multidisciplinary management of refractory orbital rhabdomyosarcoma. Ophthalmology. 1997;104(7):1198–201.
- Chisholm J, Mandeville H, Adams M, Minard-Collin V, Rogers T, Kelsey A, et al. Frontline and Relapsed Rhabdomyosarcoma (FaR-RMS) Clinical Trial: A Report from the European Paediatric Soft Tissue Sarcoma Study Group (EpSSG). Cancers (Basel). 2024;16(5):998.
- Purohit BS, Vargas MI, Ailianou A, Merlini L, Poletti PA, Platon A, et al. Orbital tumours and tumour-like lesions: exploring the Khuspe et al / IP International Journal of Ocular Oncology and Oculoplasty 2025;11(2):60-69 69 armamentarium of multiparametric imaging. Insights Imaging. 2016;7(1):43-68.
- Frankart AJ, Breneman JC, Pater LE. Radiation Therapy in the Treatment of Head and Neck Rhabdomyosarcoma. Cancers (Basel). 2021;13(14):3567.
- Pareek A, Kumar D, Pareek A, Gupta MM, Jeandet P, Ratan Y, et al. Retinoblastoma: An update on genetic origin, classification, conventional to next-generation treatment strategies. Heliyon. 2024;10(12):e32844.
- Schaiquevich P, Francis JH, Cancela MB, Carcaboso AM, Chantada GL, Abramson DH. Treatment of Retinoblastoma: What Is the Latest and What Is the Future. Front Oncol. 2022;12:822330.
- Basudan AM. The Role of Immune Checkpoint Inhibitors in Cancer Therapy. Clin Pract. 2022;13(1):22-40.
- Shi H, He X, Yang Z, Liao Q, Ruan J, Ge S, et al. The Use of rAAV2-RB1-Mediated Gene Therapy in Retinoblastoma. Invest Ophthalmol Vis Sci. 2023;64(15):31.
- Wu KY, Ashkar S, Jain S, Marchand M, Tran SD. Breaking Barriers in Eye Treatment: Polymeric Nano-Based Drug-Delivery System for Anterior Segment Diseases and Glaucoma. Polymers. 2023;15(6):1373.
- Kaliki S, Vempuluru VS, Ghose N, Patil G, Viriyala R, Dhara KK. Artificial intelligence and machine learning in ocular oncology: Retinoblastoma. Indian J Ophthalmol. 2023;71(2):424–30.
- Hameed S, Yu AC, Almadani B, Abualkhair S, Ahmad K, Zauli G. Genetic Risk Factors and Clinical Outcomes in Childhood Eye Cancers: A Review. Genes. 202415(3):276.
- Zhao J, Feng Z, Leung G, Gallie BL. Retinoblastoma Survival Following Primary Enucleation by AJCC Staging. Cancers. 2021;13(24):6240.
- Kaur K, Patel BC. Retinoblastoma. [Updated 2025 Feb 17]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing;
- Hutchinson AK, Morse CL, Hercinovic A, Cruz OA, Sprunger DT, Repka MX, et al. Pediatric Eye Evaluations Preferred Practice Pattern. Ophthalmology. 2023;130(3):P222–70.
- Schaiquevich P, Francis JH, Cancela MB, Carcaboso AM, Chantada GL, Abramson DH. Treatment of Retinoblastoma: What Is the Latest and What Is the Future. Front Oncol. 2022;12:822330.
- Kulbay M, Tuli N, Mazza M, Jaffer A, Juntipwong S, Marcotte E, et al. Oncolytic Viruses and Immunotherapy for the Treatment of Uveal Melanoma and Retinoblastoma: The Current Landscape and Novel Advances. Biomedicines. 2025;13(1):108.
- Tong Y, Lu W, Yu Y, Shen Y. Application of machine learning in ophthalmic imaging modalities. Eye Vis (Lond). 2020;7:22.
- Mane DV, Khuspe PR. Machine learning in ocular oncology and oculoplasty: Transforming diagnosis and treatment. IP Int J Ocul Oncol Oculoplasty. 2024;10(4):196–207.
- Masoomian B, Dalvin LA, Riazi-Esfahani H, Ghassemi F, Azizkhani M, Mirghorbani M, et al. Pediatric ocular melanoma: a collaborative multicenter study and meta-analysis. J AAPOS. 2023;27(6):316–24.
- Domingues C, Jarak I, Veiga F, Dourado M, Figueiras A. Pediatric Drug Development: Reviewing Challenges and Opportunities by Tracking Innovative Therapies. Pharmaceutics. 2023;15(10):2431.
- Houghton PJ, Kurmasheva RT. Challenges and Opportunities for Childhood Cancer Drug Development. Pharmacol Rev. 2019;71(4):671–97.