Idioma:

Congenital uveal melanoma?

Singh, Arun D., MD ; Schoenfield, Lynn A., MD ; Bastian, Boris C., MD ; Aziz, Hassan A., MD ; Marino, Meghan J., MS ; Biscotti, Charles V., MD

Survey of ophthalmology, 2016-01, Vol.61 (1), p.59-64 [Periódico revisado por pares]

United States: Elsevier Inc

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Título:
Congenital uveal melanoma?
Autor: Singh, Arun D., MD ; Schoenfield, Lynn A., MD ; Bastian, Boris C., MD ; Aziz, Hassan A., MD ; Marino, Meghan J., MS ; Biscotti, Charles V., MD
Assuntos: Biopsy, Fine-Needle ; buphthalmos ; Cautery ; Choroid Neoplasms - congenital ; Choroid Neoplasms - pathology ; Choroid Neoplasms - surgery ; Ciliary Body - pathology ; congenital uveal tumor ; Cryotherapy ; Eye Enucleation ; Female ; Humans ; hyperchromic heterochromia ; Infant ; Iris Neoplasms - congenital ; Iris Neoplasms - pathology ; Iris Neoplasms - surgery ; melanocytoma ; Melanoma - congenital ; Melanoma - pathology ; Melanoma - surgery ; Neoplasm Invasiveness ; Ophthalmology ; Orbital Implants ; Scleral Diseases - pathology ; uveal melanoma ; Uveal Neoplasms - congenital ; Uveal Neoplasms - pathology ; Uveal Neoplasms - surgery
É parte de: Survey of ophthalmology, 2016-01, Vol.61 (1), p.59-64
Notas: ObjectType-Case Study-3
SourceType-Scholarly Journals-1
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ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
Descrição: Abstract 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.
Editor: United States: Elsevier Inc
Idioma: Inglês

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Congenital uveal melanoma?

Singh, Arun D., MD ; Schoenfield, Lynn A., MD ; Bastian, Boris C., MD ; Aziz, Hassan A., MD ; Marino, Meghan J., MS ; Biscotti, Charles V., MD

United States: Elsevier Inc

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