Open AccessAnterior Diffuse Retinoblastoma: Mutational Analysis and Immunofluorescence Staining
Author(s) -
Meredith E. Crosby,
G. Baker Hubbard,
Brenda L. Gallie,
Hans E. Grossniklaus
Publication year - 2009
Publication title -
pubmed central
Language(s) - English
Resource type - Journals
ISSN - 0003-9985
DOI - 10.5858/133.8.1215
Subject(s) - retinoblastoma , biology , pathology , immunofluorescence , vascular endothelial growth factor , germline , staining , allele , germline mutation , mutation , cancer research , vegf receptors , genetics , medicine , gene , antibody
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.