Retinoblastoma is the most common intra-ocular tumor of childhood. The underlying pathology involves inactivation of the Rb suppressor gene, which may be familial or sporadic.
It is highly malignant tumor, and failure to diagnose and treat the disease early may lead to death from liver and brain metastases. The other manifestations of the disease may include strabismus, decreased vision, ocular inflammation, eye pain, glaucoma, and orbital cellulitis. The diagnosis is highly suspected with Ultrasound or CT scan findings of a mass with calcifications.
Tumor suppressor gene : Rb
Associated tumor : Retinoblastoma , Osteosarcoma
Gene product : Inhibits E2F; blocks G1 -> S phase.
Diagnostic findings :
Circular grouping of dark tumor cells surrounding pale neurofibrils
Homer-Wright rosettes (neuroblastoma, medulloblastoma, retinoblastoma)
It is highly malignant tumor, and failure to diagnose and treat the disease early may lead to death from liver and brain metastases. The other manifestations of the disease may include strabismus, decreased vision, ocular inflammation, eye pain, glaucoma, and orbital cellulitis. The diagnosis is highly suspected with Ultrasound or CT scan findings of a mass with calcifications.
Tumor suppressor gene : Rb
Associated tumor : Retinoblastoma , Osteosarcoma
Gene product : Inhibits E2F; blocks G1 -> S phase.
Diagnostic findings :
Circular grouping of dark tumor cells surrounding pale neurofibrils
Homer-Wright rosettes (neuroblastoma, medulloblastoma, retinoblastoma)
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