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Byers Eye Institute

VitreoRetinalSurgery, P.A.

University of Minnesota

Ophthalmology

Peter H. Tang, M.D., Ph.D.Clinical Instructor

Byers Eye InstituteStanford University School of Medicine

Genetic Testing for Choroidal Melanoma

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Financial Disclosures• Consultant: Google, InFocus Therapeutics

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CC: “eye freckle”

HPI: • 76 yo Caucasian female followed for 20+ year

for choroidal nevus OD• 5 year gap, returns for follow up• Denies any symptomatic changes to vision

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Visual Acuity: 20/20cc OU

Pupils: R&R, no APD OU

Tonometry: 13 mmHg OU

Anterior Exam: 1+ NSC OU

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For 20 years… (2012)

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5 years later…

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2012 20177

OCT2017

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Assessment/Plan:

Choroidal nevus, OD• Reactive RPE elevations with pigmentary

changes (prior CNV?)• Apical subretinal fluid probably due to RPE

dysfunction• Observe closely

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3 months later…

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2012 Summer 2017 Fall 2017

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Assessment/Plan:• Hemorrhagic PED vs nodular

breakthrough with active tumor• Observe closely

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Vitreous hemorrhage 1 month later

Visual Acuity: 20/200cc OD

Pupils: R&R, no APD OU

Tonometry: 14 mmHg OD13

1 Month Earlier Now

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DDx• Malignant transformation

of choroidal nevus• Breakthrough from

hemorrhagic PEDOptions1) Wait for VH to clear2) Pars plana vitrectomy3) PPV & biopsy of lesion4) Brachytherapy

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[Surgical Video]

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Choroidal melanoma• Surgical pathology confirmation• GEP: Low metastatic risk• Co-manage w/ Oncology• Proceed with brachytherapy

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Risks for Malignancy• Age• Tumor Size (diameter/height)• Ciliary Body Involvement• Genetic Testing

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Genetic Testing• Bap1, Sf3b1, Eif1ax, etc.• Chromosome 3 Status• Gene expression profiling (GEP)

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Gene Expression Profiling (GEP)• PCR analysis of 15 genes• Machine learning algorithm• Assigns metastatic risk:

Class 1A (low), 1B (med)Class 2 (high) – 50% by Yr 3

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Implications for GEP• Enroll in clinical trial?• Adjuvant therapy?• Observe Class 1A?• Collaborative Ocular

Oncology Group (COOG)22

Thank you!

Prithvi Mruthyunjaya, M.D., M.H.S.Director of Ocular Oncology

Vinit B. Mahajan, M.D., Ph.D.Omics Laboratory

Byers Eye Institute23