RT Book, Section A1 Bianchi, Diana W. A1 Crombleholme, Timothy M. A1 D'Alton, Mary E. A1 Malone, Fergal D. SR Print(0) ID 1106401038 T1 Retinoblastoma T2 Fetology: Diagnosis and Management of the Fetal Patient, 2e YR 2015 FD 2015 PB McGraw-Hill Education PP New York, NY SN 978-0-07-144201-5 LK obgyn.mhmedical.com/content.aspx?aid=1106401038 RD 2024/03/28 AB Key PointsMost common intraocular tumor of childhood, with only a few cases diagnosed antenatally.Retinoblastoma develops in cells that have mutations in both copies of the gene RBI, which is located on chromosome 13q14.Retinoblastoma may be nonheritableor heritable. When familial, a single RB1 mutation is inherited as an autosomal dominant condition. Tumor formation then requires a second mutation. Heritable forms are predisposed to second malignancies, such as sarcoma.Prenatal sonography is an extremely insensitive screening technique for families at risk for recurrence. DNA diagnosis is definitive if the RB1 mutation is known.In fetuses with a suspected retinoblastoma and negative family history, work-up should include chromosome analysis with FISH probes for 13q14 deletion, level II sonography, and delivery in a tertiary setting.Many postnatal treatment options exist, including radiation, enucleation, and chemotherapy.