Histopathology and Genetic Biomarkers of Choroidal Melanoma

Author:

Broggi GiuseppeORCID,Russo AndreaORCID,Reibaldi MicheleORCID,Russo Daniela,Varricchio Silvia,Bonfiglio Vincenza,Spatola CorradoORCID,Barbagallo CristinaORCID,Foti Pietro Valerio,Avitabile Teresio,Longo Antonio,Caltabiano RosarioORCID

Abstract

Choroidal melanoma (CM), despite its rarity, is the most frequent intraocular malignancy. Over time, several histological variants of CM have been distinguished, including spindle A and B cell, fascicular, epithelioid and necrotic type. However, they have been progressively abandoned as having no prognostic value and currently, the American Joint Committee of Cancer (AJCC) classification identifies three CM cell types: spindle, epithelioid and mixed cell type. Other rare histological variants of CM include: (i) diffuse melanoma; (ii) clear cell; and (iii) balloon cell melanoma. Immunohistochemically, CMs are stained with Human Melanoma Black 45 (HMB45) antigen, S-100 protein, Melan-A (also known as melanoma antigen recognized by T cells 1/MART-1), melanocyte inducing transcription factor (MITF), tyrosinase, vimentin, and Sex determining region Y-Box 10 (SOX10). Several genetic and histopathological prognostic factors of CM have been reported in the literature, including epithelioid cell type, TNM staging, extraocular extension, monosomy 3 and 6p gain and loss of BAP-1 gene. The aim of this review was to summarize the histopathological, immunohistochemical and genetic features of CM, establishing “the state of the art” and providing colleagues with practical tools to promptly deal with patients affected by this rare malignant neoplasm.

Publisher

MDPI AG

Subject

Fluid Flow and Transfer Processes,Computer Science Applications,Process Chemistry and Technology,General Engineering,Instrumentation,General Materials Science

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