1. 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

2. Case #3

3. Case #3 (cont’d)

4. Case 3: Basal Cell Carcinoma
S F 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

5. Case 3: Basal Cell Carcinoma
BCC

6. Case #5

7. Case #5 (cont’d)

8. Case #5 (cont’d)

9. Case 5: capillary hemangioma
P mo 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

10. 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

11. Case #6

12. Case #6 (cont’d)

13. Case #6 (cont’d)

14. Case 6: vascular malformation, possibly arteriovenous
masson

15. Case 6: vascular malformation, possibly arteriovenous
masson

16. Case 6: vascular malformation, possibly arteriovenous
masson

17. Case #7

18. Case #7 (cont’d)

19. Case #7 (cont’d)

20. 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

21. Case #8

22. Case 8: Retinoblastoma
P unilateral
Retinoblastoma

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

24. Case 8: Retinoblastoma
P07-860
Retinoblastoma

25. 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

26. 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

27. Case #9

28. Case #9 (cont’d)

29. Case #9 (cont’d)

30. Case #9 (cont’d)

31. 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

32. Case 9: Embryonal rhabdomyosarcoma
P08-970
Embryonal rhabdomyosarcoma

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

34. Case #10

35. Case #10 (cont’d)

36. Case #10 (cont’d)

37. 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

38. 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