Diagnosis and current management of retinoblastoma

• Published in: Oncogene Vol. 25; no. 38; pp. 5341 - 5349
• Main Authors: Balmer, A, Zografos, L, Munier, F
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 28.08.2006
• Subjects: Cancer; Cell Division; Children; Disease management; Eye diseases; Eyes & eyesight; Genes, Retinoblastoma; Genetic disorders; Humans; Hyperthermia, Induced; Medical diagnosis; Medical prognosis; Neoplasm Metastasis; Neoplasms, Second Primary - genetics; Pediatrics; Prognosis; Retina; Retinal Neoplasms - diagnosis; Retinal Neoplasms - genetics; Retinal Neoplasms - pathology; Retinal Neoplasms - therapy; Retinoblastoma; Retinoblastoma - diagnosis; Retinoblastoma - genetics; Retinoblastoma - pathology; Retinoblastoma - therapy; Retinoblastoma protein; Risk; Strabismus; Survival; Tumor suppressor genes; Tumors; Visual perception; Young adults
• ISSN: 0950-9232; 1476-5594
• DOI: 10.1038/sj.onc.1209622

Retinoblastoma represents the prototypic model for inherited cancers. The RB1 gene was the first tumor suppressor gene to be identified. It represents the most frequent primary eye cancer in children under 15 years old, habitually occurring in infancy, even in utero, but can be observed in older children or young adults. Many other retinal lesions may also simulate retinoblastoma. The two major presenting signs are leukocoria and strabismus, but other ocular or general signs may be observed. A highly malignant tumor, retinoblastoma can nowadays be cured. The heritable form, however, carries a high risk of second nonocular tumors. Treatment in the early stages of disease holds a good prognosis for survival and salvage of visual function. In very late stages, however, the prognosis for ocular function and even survival is jeopardized.