Congenital uveal melanoma?
A 3-month-old infant with a white mother and Asian father presented with discoloration and prominence of the left eye since birth. Examination revealed a normal right eye. The left eye had hyperchromic heterochromia and an enlarged cornea (diameter, 13.0 mm) with intraocular pressure of 26 mm Hg. There were multiple areas of subconjunctival nodular pigmentation that extended posteriorly into the superior fornix. Fundus examination showed a large ciliochoroidal pigmented mass extending from 10:30 to 3:00 o'clock position involving the superior half of the choroid and adjacent ciliary body. The eye was enucleated, confirming the diagnosis of diffuse uveal melanoma with extraocular extension. Systemic surveillance (hepatic panel and ultrasonography of the liver) performed every 6 months for 5 years was has been negative for metastases. The tumor was investigated intensively for the panel of genes (BAP1, BRAF, NRAS12, NRAS61, GNAQ, Kit 9,11,13,17,18) implicated in pathogenesis of blue nevus, cutaneous melanoma, and mucosal melanomas with negative results. Moreover, germline BAP1 mutation could not be identified. This case possibly represents as yet unidentified uveal melanocytic proliferation rather than a true variant of uveal melanoma.
Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland, Ohio, USA. Electronic address: singha@ccf.org.
Arun D
AD
Singh
Department of Pathology, Wexner Medical Center, Ohio State University, Columbus, Ohio, USA.
Lynn A
LA
Schoenfield
Department of Dermatology, Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA; Department of Pathology, Helen Diller Family Comprehensive Cancer Center, University of California San Francisco, San Francisco, California, USA.
Boris C
BC
Bastian
Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland, Ohio, USA.
Hassan A
HA
Aziz
Department of Ophthalmic Oncology, Cole Eye Institute, Cleveland, Ohio, USA.
Meghan J
MJ
Marino
Anatomic Pathology, Cleveland Clinic, Cleveland, Ohio, USA.
Charles V
CV
Biscotti
D044963:Biopsy, Fine-Needle; D002425:Cautery; D002830:Choroid Neoplasms / Q000151:congenital / Q000473:pathology / Q000601:surgery; D002924:Ciliary Body / Q000473:pathology; D017679:Cryotherapy; D015353:Eye Enucleation; D005260:Female; D006801:Humans; D007223:Infant; D015811:Iris Neoplasms / Q000151:congenital / Q000473:pathology / Q000601:surgery; D008545:Melanoma / Q000151:congenital* / Q000473:pathology* / Q000601:surgery; D009361:Neoplasm Invasiveness; D020273:Orbital Implants; D015422:Scleral Diseases / Q000473:pathology; D014604:Uveal Neoplasms / Q000151:congenital* / Q000473:pathology* / Q000601:surgery; D000098943:Uveal Melanoma
buphthalmos; congenital uveal tumor; hyperchromic heterochromia; melanocytoma; uveal melanoma