Anterior diffuse retinoblastoma: mutational analysis and immunofluorescence staining.
Retinoblastoma is the most common primary intraocular tumor of childhood and may be heritable or occur sporadically. Anterior diffuse retinoblastoma is an uncommon variant that is thought to be sporadic. We describe a child with anterior diffuse retinoblastoma who presented with a pseudohypopyon. Genetic analysis showed a germline mutation of the RB1 allele that is potentially heritable. Immunofluorescence staining was positive for transforming growth factor beta and for vascular endothelial growth factor and negative for inducible nitric oxide synthase and for hypoxia inducible factor alpha in the tumor seeds, indicating acquisition of nonischemia-mediated survival factors of the tumor seeds in the aqueous humor.
Crosby
Michelle B
MB
Department of Ophthalmology, Emory University School of Medicine, Atlanta, Georgia, USA.
Hubbard
G Baker
GB
Gallie
Brenda L
BL
Grossniklaus
Hans E
HE
D000869:Anterior Eye Segment / Q000473:pathology*; D014408:Biomarkers, Tumor / Q000032:analysis; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005455:Fluorescent Antibody Technique; D018095:Germ-Line Mutation; D006801:Humans; D019572:Retinal Neoplasms / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D012175:Retinoblastoma / Q000737:chemistry / Q000235:genetics* / Q000473:pathology; D016160:Retinoblastoma Protein / Q000235:genetics*; D016212:Transforming Growth Factor beta / Q000032:analysis; D042461:Vascular Endothelial Growth Factor A / Q000032:analysis
D014408:Biomarkers, Tumor; D016160:Retinoblastoma Protein; D016212:Transforming Growth Factor beta; C467484:VEGFA protein, human; D042461:Vascular Endothelial Growth Factor A