Deletion of both RB1 tumor suppressor genesDeletion of both RB1 tumor suppressor genesHereditary form 40%Hereditary form 40% Germ cell line mutation; loss of one gene at Germ cell line mutation; loss of one gene at
embryogenesisembryogenesis Usually presents bilaterally and earlyUsually presents bilaterally and early Risk of second malignancyRisk of second malignancy
Non-hereditary form 60%Non-hereditary form 60% Somatic mutation at level of retinal cellSomatic mutation at level of retinal cell Usually unilateral and presents later in childhoodUsually unilateral and presents later in childhood
Case #9Case #9
Case #9 (cont’d)Case #9 (cont’d)
Case #9 (cont’d)Case #9 (cont’d)
Case #9 (cont’d)Case #9 (cont’d)
Case 9Case 9: Embryonal rhabdomyosarcoma: Embryonal rhabdomyosarcoma
Case 9Case 9: Embryonal rhabdomyosarcoma: Embryonal rhabdomyosarcoma
Case 9Case 9: embryonal rhabdomyosarcoma: embryonal rhabdomyosarcoma
desmin myoD1 myogenin
Case #10Case #10
Case #10 (cont’d)Case #10 (cont’d)
Case #10 (cont’d)Case #10 (cont’d)
Case 10Case 10: cavernous hemangioma: cavernous hemangioma
Case 10Case 10: cavernous hemangioma: cavernous hemangioma