Intraocular Tumors: Fall 2024 Lecture Notes PDF

IN TRAOC U L AR TUMORS FA L L 2024 A N D R E A YA N G , O. D. 1 IN TRAOC U L AR TUMORS FA L L 2024 A N D R E A YA N G , O. D. 2 The Most Common Cancers (WHO, 2020) Breast...

IN TRAOC U L AR TUMORS FA L L 2024 A N D R E A YA N G , O. D. 1 IN TRAOC U L AR TUMORS FA L L 2024 A N D R E A YA N G , O. D. 2 The Most Common Cancers (WHO, 2020) Breast 2,260,000 Lung 2,210,000 Colorectum 1,930,000 Prostate 1,410,000 Skin (non-melanoma) 1,200,000 Stomach 1,090,000 Dr. Yang, 2024 3 Estimated New Cases in 2024 (ACS, USA) Breast 313,510 Prostate 299,010 Lung 234,580 Colorectum 152,810 Melamona of skin 100,640 NH-Lymphoma 80,620 Leukemia 62,770 Brain/nervous system 25,400 Eye and orbit 3,320 Dr. Yang, 2024 4 Estimated Deaths in 2024 (ACS, USA) Lung 125,070 Colorectum 53,010 Breast 42,78 0 Prostate 35,250 Leukemia 23,670 NH-Lymphoma 20,140 Brain/nervous system 18,760 Melanoma of skin 8,290 Eye and orbit 560 Dr. Yang, 2024 5 Learning Objectives Review basic oncology/tumor terminology Learn key features and differential diagnostic characteristics of the following: – Most common tumors of retina – Most common tumors of uvea – Most common tumors of optic nerve – Most common intraocular metastases – Intraocular lymphoma and leukemia Dr. Yang, 2024 -there is less emphasis on the management but be able to recognize the clinical features and refer them out to specialist for prompt care 6 Basic Oncology Terminology Benign tumors Malignant tumors (cancer) Do not invade other tissues Displays unregulated faster growth Grow slowly Usually destroys adjacent tissues Can be locally excised May invade local tissues only Patient generally survives May invade other tissues Benign ocular tumors can still decrease May metastasize via blood or by lymphatic vision drainage or by direct contact Can be fatal if not treated Dr. Yang, 2024 -benign doesn’t mean normal function 7 Basic Tumor Terminology Hamartoma C horistoma A benign, focal malformation Consists of microscopically normal cells/tissues Composed of tissue normally found at that site Found in abnormal location – eg: angiomas (hemangiomas, lymphangiomas) – eg: choroidal osteoma Dr. Yang, 2024 -hamartoma is a excessive normal tissue in normal environment so it grows at the same rate as its surrounding tissue but in a disorganized manner à most often pts are asymptomatic and diagnosis are made incidentally -choristoma is a collection of normal cells or tissues growing in abnormal area -bone tissue growing in choroid is a type of choristoma and is called choroidal osteoma 8 Basic Tumor Terminology Hemangioma Hematoma An abnormal buildup of blood vessels A localized collection of blood outside the in the skin or internal organs blood vessels Non-cancerous Usually in liquid form within the tissue – eg: ecchymosis Usually congenital Dr. Yang, 2024 -hemangioma is a type of hamartoma and is a non-cancerous growth that forms due to an abnormal collection of blood vessels à often found in skin, usually congenital, sometimes called birthmarks -hematoma is a collection outside the blood vessels ex being ecchymosis often called a bruise 9 Basic Tumor Terminology Lymphangioma Lymphoma A mass or tumor of lymph vessels A group of blood cell tumors from lymphocytes Usually a benign lesion Refers to just the cancerous ones Rare complications if impinging on – eg: Hodgkin’s lymphoma, Non-Hodgkin’s lymphoma critical organs Dr. Yang, 2024 -lymphangioma is another type of hematoma that’s a mass or tumor of lymph vessels -lymphoma is a group of WBC tumors that develop in the lymphocytes - 10 Tumors Arising From Different Cell Types Tumor types Cell types Examples Carcinoma Epithelial cells Lung, breast, colon Sarcoma Mesenchymal cells Rhabdomyosarcoma Leukemia/Lymphoma Hematopoietic cells Leukemia, lymphoma Blastoma Embryonic cells Retinoblastoma Melanoma Melanocytes Choroidal melanoma Osteoma Bone cells Choroidal osteoma Supportive tissue of brain Glioma Astrocytoma, Glioblastoma (eg. Astrocytes) Dr. Yang, 2024 11 Intraocular Tumors Retina Uveal track Optic nerve Metastasis Lymphoma and Leukemia Dr. Yang, 2024 12  § Retinoblastoma § Retinal astrocytoma Tumors of Retina § Retinal capillary hemangioma § Retinal cavernous hemangioma § RPE tumor Dr. Yang, 2024 -all are benign tumors except for retinoblastoma 13 Retinoblastoma Epidemiology – Most common primary intraocular malignancy of childhood – Present at birth – ~1 in 14,000~20,000 live births – Average age of diagnosis ~18 months – No racial, gender predisposition – ~1% of all deaths below 15 years of age Dr. Yang, 2024 14 Retinoblastoma Genetics – Retinoblastoma (RB1) gene mutation (recessive tumor suppressor gene) – Congenital (“hereditary”) form – Sporadic form RB1 gene mutation present at birth up to 30% of cases Up to 90% of cases AD inheritance if inherited from parents (~10% of cases) Often diagnosed within 2 years of life Often diagnosed within 1 year of life Unilateral Bilateral, multifocal Higher risk of other cancers in the body Dr. Yang, 2024 -RB1 gene is recessive tumor suppressor gene that is both copies of RB1 gene must be mutated for tumor development -so normal RB1 gene keeps retinoblast from growing out of control -sporadic form is more common than congenital form 15 Retinoblastoma Clinical features – Initially, small, transparent – Elevated dome-shaped white or cream-colored retinal mass – Prominent retinal feeder, drainer blood vessels – Vitreous seeding, secondary retinal detachment – Leukocoria, strabismus – Worsening vision over weeks to months Dr. Yang, 2024 16 Retinoblastoma Dr. Yang, 2024 -bilateral is usually congenital 17 Retinoblastoma Diagnostic approaches – Clinical history – Slit lamp biomicroscopy – Ophthalmoscopy – Ultrasonography – Fluorescein angiography – MRI, (CT) – Fine needle aspiration biopsy (rarely indicated) Dr. Yang, 2024 -to diagnose retinoblastoma, a thorough retinal exam can be done under anesthesia with maximum dilated pupils and scleral indentation -CT scan can show calcium deposits in tumor better than MRI but is avoided due to radiation risk 18 Retinoblastoma Dr. Yang, 2024 -b scan shows mass in the vitreous -color photo shows large nodular white retinal mass -arterial phase shows feeding of retinal artery and venous phase shows more complete filling of the tumor and late phase shows intensive staining of the entire tumor 19 Retinoblastoma Pathology and growth patterns – Tumor of retinoblasts – Arises from neurosensory retina – Endophytic or exophytic growth – Diffuse infiltration Dr. Yang, 2024 -is a tumor that can metastasize - 20 Retinoblastoma Growth patterns – Initially intraretinal à neurosensory retina – Endophytic growth à refers to growth in the vitreous space – Exophytic growth à refers to growth in the subretinal space giving rise to retinal detachment – Mixed endophytic and exophytic growth à both patterns may coexists in the same tumor – Rare flat diffuse pink infiltrating pattern Dr. Yang, 2024 21 Retinoblastoma Early endophytic growth Dr. Yang, 2024 -difficult to recognize as retinoblastoma esp in a blonde fundus -notices how the bv in the area disappeared 22 Retinoblastoma Advancing endophytic growth – Tumor growth into the vitreous space Dr. Yang, 2024 -obscuring the view of the macula and optic nerve and vessels seem to be gone and the the vitreous cavity comes forward into the vitreous space 23 Retinoblastoma Exophytic growth – Tumor growth in the subretinal space giving rise to RD Dr. Yang, 2024 -can still appreciate the bv whereas in endophytic the vessels disappear -this pic shows multilobulated white mass with overlying retinal detachment 24 Retinoblastoma Diffuse infiltrating retinoblastoma – ~1% of cases – Usually unilateral, non-familial – Somewhat older children – No detectable mass but sheet-like dissemination – Opacified thickened retina – Simulates inflammatory disease – High incidence of misdiagnosis – Usually requires enucleation Dr. Yang, 2024 -rare! -no detectable mass -grows more slowly -often misdiagnosed and tend to be diagnosed at an older age 25 Retinoblastoma Far-advanced cases – Secondary angle closure glaucoma – Optic nerve and orbital extension – Massive extraocular extension – Intracranial extension – Distant metastasis (bone, bone marrow, liver) Dr. Yang, 2024 26 Retinoblastoma The Reese-Ellsworth classification system – To predict the prognosis after treatment with external beam radiation The International Classification of Retinoblastoma – To predict outcomes for eyes with intraocular retinoblastoma after treatment with chemotherapy and focal laser treatment Dr. Yang, 2024 -most retinoblastomas in the early 1950s were managed with radiation but long term follow up had developed non-ocular secondary cancers that was attributed to the effect of external beam radiation so then the treatment modality was shifted to chemotherapy 27 Retinoblastoma International Classification of Retinoblastoma Group A Tumor size ≤ 3 mm (“very low risk”) Confined to the retina but not near the optic disc or fovea Group B All other tumors still confined to the retina (“low risk”) Group C Tumor starts in the retina but has spread locally to produce fluid under the retina or small (“moderate risk”) tumor seeds in the vitreous Group D Tumor has spread throughout the retina and eyeball, but not to the lens (“high risk”) Group E Tumor reaches the lens or pupil (“very high risk”) May cause glaucoma, may infiltrate the wall of the eyeball Dr. Yang, 2024 -don’t have to memorize 28 Retinoblastoma Extraocular Retinoblastoma Staging Stage 0 Tumor is still intraocular Stage 1 Eye enucleated: there is some microscopic spread to the optic nerve Stage 2 Eye enucleated: tumor was found at the cut edge of the optic nerve or infiltrating the sclera Stage 3 Tumor spread outside the eye to the orbit or nearby lymph nodes Stage 4a Tumor spread distantly (bone marrow, lymph nodes, bone, liver) Stage 4b Tumor spread distantly (including the spinal fluid or brain) Dr. Yang, 2024 -don’t have to memorize 29