Phenotypic variability of retinocytomas: preregression and postregression growth patterns.
OBJECTIVE
To describe the incidence of retinocytomas, their variability at presentation and their growth patterns both before and after regression.


METHODS
Medical notes of the 525 patients of the Jules-Gonin Eye Hospital Retinoblastoma Clinic between 1964 and 2008 were reviewed and the charts of 36 patients with retinocytomas and/or phthisis bulbi were selected.


RESULTS
The proportion of patients with retinocytomas and/or phthisis bulbi was 3.2%. The mean age at diagnosis was 28.7 ± 17 years. Five tumours presented a cystic pattern (5.8%). Evidence of aggressive exophytic disease prior to spontaneous regression was documented in two eyes, and of invasive endophytic disease (regressed vitreous seeding or internal limiting membrane disruption) in three eyes. Twenty patients were followed with a mean follow-up of 44 ± 60 months. Tumour growth was observed in 16% cases, benign cystic enlargement in 4% and malignant transformation in 12%.


CONCLUSIONS
This large study of retinocytomas substantially expands the published features of retinocytoma by describing the cystic nature of some retinocytomas as well as clinical characteristics of the endophytic and exophytic preregression growth patterns. The authors report two different patterns of reactivation: benign cystic enlargement and malignant transformation with or without cystic growth. Higher than previously reported frequency of growth and possible life-threatening complications impose close lifetime follow-up of retinocytoma patients.
Jules-Gonin Eye Hospital University of Lausanne, Switzerland.
Hana
H
Abouzeid
Aubin
A
Balmer
Alexandre P
AP
Moulin
Asimina
A
Mataftsi
Leonidas
L
Zografos
Francis L
FL
Munier
D000328:Adult; D015353:Eye Enucleation; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D015994:Incidence; D008297:Male; D009154:Mutation; D009365:Neoplasm Regression, Spontaneous; D010641:Phenotype; D012074:Remission Induction; D019572:Retinal Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D012175:Retinoblastoma / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology*; D016160:Retinoblastoma Protein / Q000235:genetics; D012189:Retrospective Studies; D014463:Ultrasonography
D016160:Retinoblastoma Protein