Diagnosis and management of secondary epipapillary retinoblastoma.
Reports on retinoblastoma relapse at the optic nerve head (ONH) are anecdotal and include only treatments by external beam radiotherapy (EBRT) or enucleation. We aimed to describe such cases, termed secondary epipapillary retinoblastoma, diagnosed and monitored with the assistance of hand-held spectral domain optical coherence tomography (HHSD-OCT) and treated with intraophthalmic artery chemotherapy (IAC) and/or intravitreous chemotherapy (IViC).



A retrospective analysis of secondary epipapillary retinoblastoma cases treated conservatively.



Four males and two females were included, diagnosed with secondary epipapillary retinoblastoma at a median time of 8.6 months (mean 24.0) from initial retinoblastoma diagnosis. HHSD-OCT was used in all cases for accurate diagnosis; in 2/6, the epipapillary relapse was detected only by means of HHSD-OCT. Treatments for secondary epipapillary retinoblastoma included IAC and IViC (n=4), IAC alone (n=1) and IViC alone (n=1). HHSD-OCT demonstrated complete epipapillary tumour regression in all cases, achieved in a median time of 1.6 months (mean 1.8). The median time from secondary epipapillary retinoblastoma resolution to last visit was 29.2 months (mean 27.5). At last visit, all eyes were tumour-free and no cases of metastasis recorded.



Cases of retinoblastoma relapse at the ONH show common clinical features and represent specific diagnostic and therapeutic challenge; hence, we propose to consider this condition as a subset of retinoblastoma, termed secondary epipapillary retinoblastoma. HHSD-OCT is an invaluable diagnostic tool in the initial diagnosis as well as in monitoring these lesions, and IAC and IViC are efficient modalities for this clinical scenario, obviating the need for EBRT or enucleation.
Unit of Pediatric Ocular Oncology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.|Ocular Oncology Service, Goldschleger Eye Institute, Sheba Medical Center, Tel-Aviv University, Tel Aviv, Israel.
Ido Didi
ID
Fabian
Department of Radiology, Interventional Neuroradiology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Francesco
F
Puccinelli
Unit of Pediatric Ocular Oncology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Marie-Claire
MC
Gaillard
Unit of Pediatric Hematology-Oncology, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.
Maja
M
Beck-Popovic
Unit of Pediatric Ocular Oncology, Jules-Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland.
Francis L
FL
Munier
D000971:Antineoplastic Combined Chemotherapy Protocols / Q000627:therapeutic use; D001918:Brachytherapy / Q000379:methods; D016190:Carboplatin / Q000008:administration & dosage; D002675:Child, Preschool; D017679:Cryotherapy / Q000379:methods; D005260:Female; D006801:Humans; D006979:Hyperthermia, Induced / Q000379:methods; D007223:Infant; D007261:Infusions, Intra-Arterial; D008297:Male; D008558:Melphalan / Q000008:administration & dosage; D019572:Retinal Neoplasms / Q000175:diagnosis* / Q000628:therapy*; D012175:Retinoblastoma / Q000175:diagnosis* / Q000628:therapy*; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D019772:Topotecan / Q000008:administration & dosage
D019772:Topotecan; D016190:Carboplatin; D008558:Melphalan
Imaging; Neoplasia; Optic Nerve; Retina; Treatment other