OCULAR PATHOLOGY CASE CONFERENCE Chirag Patel, M.D. (PGY-2) Hilary Nikols, M.D. (PGY-3) Mark Becher, M.D. Louise Mawn, M.D. October 20, 2008

Case #3

Case #3 (cont’d)

Case 3: Basal Cell Carcinoma S08-16580 63F fungating mass L eye; exenteration; involvement of L orbit Biopsy proven basal cell carcinoma: BCC Nodular infiltratice BCC; invasive into mm. SQ tissue and focally involving sclera and conjunctiva Most common tumor involving eyelids, especially lower More common in Caucasians with extensive sunlight exposure Palisading tumor cells at the periphery of tumor cell nests “rodent ulcer” gross appearance with rolled endges and ulcerated center

Case 3: Basal Cell Carcinoma BCC

Case #5

Case #5 (cont’d)

Case #5 (cont’d)

Case 5: capillary hemangioma P08-987 16mo F giant vascular lesion inferior orbit Capillary hemangioma: hemangioma of infancy With lymphangiomas are the most common vascular tumors of the orbit in children Poorly circumscribed and unencapsulated Composed of plexus of capillary caliber vessels Early lesions composed of predominately solid sheet of endothelial cells; vascular lesions become progressively ectatic as the lesion matures with enlarged capillary lumens Eyelid lesions look like strawberry red nevi; those confined to the orbit may be more subtle with proptosis and bluish skin discoloration

Case 5: capillary hemangioma Capillary hemangioma: hemangioma of infancy With lymphangiomas are the most common vascular tumors of the orbit in children Poorly circumscribed and unencapsulated Composed of plexus of capillary caliber vessels Eary lesions composed of predominately solid sheet of endothelial cells; vascular lesions become progressively ectatic as the lesion matures with enlarged capillary lumens Eyelid lesions look like strawberry red nevi; those confined to the prbit may be more subtle with proptosis and bluish skin discoloration

Case #6

Case #6 (cont’d)

Case #6 (cont’d)

Case 6: vascular malformation, possibly arteriovenous masson

Case 6: vascular malformation, possibly arteriovenous masson

Case 6: vascular malformation, possibly arteriovenous masson

Case #7

Case #7 (cont’d)

Case #7 (cont’d)

Case 7: dermoid P08-1741: 3 yo. Present since birth Most common orbital lesion in infants and children Entrapment of surface ectoderm in bony sutures during development Choristomatous lesions (benign congenital tumor composed of cellular elements and tissues not usually present at that site) usually located in the superotemporal quadrant Resemble epidermoid inclusion cysts, but also have epidermal appendages such as pilosebaceous units and sweat glands Cyst filled with keratin debris Lined by stratified squamous epithelium Epidermal appendages resemble skin Epidermoid cyst caused by obstruction of the duct of a pilosebaceous follicle. Lined by stratified squamous epithelium – epidermoid or retention cyst Dermoid cyst formed when embryonic ectodermal rests are displaced into the lid or orbit; presence of pilosebaceous follicles in the wall of dermoid cyst Usually slowly growing painless masses in upper lid

Case #8

Case 8: Retinoblastoma P07-860 unilateral Retinoblastoma

Case 8: Retinoblastoma P07-860 Retinoblastoma Most common malignant ocular tumor of childhood Originating from embryonal retinal cells; unilateral or bilateral Rare with 1/20 000 live births incidence; extremely rare in adults Leucocoria and strabismus

Case 8: Retinoblastoma P07-860 Retinoblastoma

Case 8: Retinoblastoma PAS P07-860 Retinoblastoma: most common intraocular tumor of childhood Rare; 250 cases annually in the US Mean age at diagnosis 18 months White pupillary reflex: leukocoria Flexner-Wintersteiner rosette = circle of cells limited internally by continuous membrane Homer-Wright: multilayered sircle of nuclei surrounding eosinophilic fibrillar material Fleurettes: circular/oval group of cells in which cytoplasmic processes have ultrastructural characteristics of inner segments of photoreceptors Tumor spreads along optic nerve

Case 8: Retinoblastoma Deletion of both RB1 tumor suppressor genes Hereditary form 40% Germ cell line mutation; loss of one gene at embryogenesis Usually presents bilaterally and early Risk of second malignancy Non-hereditary form 60% Somatic mutation at level of retinal cell Usually unilateral and presents later in childhood P07-860 Retinoblastoma: most common intraocular tumor of childhood Rare; 250 cases annually in the US Mean age at diagnosis 18 months White pupillary reflex: leukocoria

Case #9

Case #9 (cont’d)

Case #9 (cont’d)

Case #9 (cont’d)

Case 9: Embryonal rhabdomyosarcoma P08-970 Embryonal rhabdomyosarcoma Rhabdomyosarcoma most common mesenchymal soft tissue malignancy in childhood Approx 3% of all childhood malignancies 70% first decade; M:F 3:2 Rapidly growing irregular orbital mass leading to proptosis Pale tan mass extending from extraocular muscle Embryonal, alveolar and (adult) pleomorphic Pleomorphic with rhabdomyoblasts that closely resemble striated mm. fibers Embryonal = bizarrely shaped rhabdomyoblasts, scant cross-striations

Case 9: Embryonal rhabdomyosarcoma P08-970 Embryonal rhabdomyosarcoma

Case 9: embryonal rhabdomyosarcoma P08-970 Embryonal rhabdomyosarcoma Identlify myoglobin constituent within suspect tumor cells desmin myoD1 myogenin

Case #10

Case #10 (cont’d)

Case #10 (cont’d)

Case 10: cavernous hemangioma Most common vascular tumor in orbit of adults is cavernous hemangioma Benign slow-growing hamartomas which often are well-circumscribed within the orbit Red-purple with nodular surface on gross examination Usually uniform blood-filled spaces uniform in size separated by fibrous tissue

Case 10: cavernous hemangioma Most common vascular tumor in orbit of adults is cavernous hemangioma Benign slow-growing hamartomas which often are well-circumscribed within the orbit Red-purple with nodular surface on gross examination Usually uniform blood-filled spaces uniform in size separated by fibrous tissue