Iris and Ciliary Body Melanocytomas Are Defined by Solitary GNAQ Mutation Without Additional Oncogenic Alterations

To analyze the genetic features of melanocytomas and melanomas of the anterior uvea and assess the value of molecular testing for diagnosis and prognostication. Retrospective case-control study. Patients with melanocytoma (n = 16) and melanoma (n = 19) of the anterior uvea. Targeted next-generation...

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Veröffentlicht in:	Ophthalmology (Rochester, Minn.) Minn.), 2022-12, Vol.129 (12), p.1429-1439
Hauptverfasser:	Solomon, David A., Ramani, Biswarathan, Eiger-Moscovich, Maya, Milman, Tatyana, Uludag, Gunay, Crawford, J. Brooks, Phan, Isabella, Char, Devron H., Shields, Carol L., Eagle, Ralph C., Bastian, Boris C., Bloomer, Michele M., Pekmezci, Melike
Format:	Artikel
Sprache:	eng
Schlagworte:	Case-Control Studies Ciliary body Ciliary Body - pathology DNA Mutational Analysis GTP-Binding Protein alpha Subunits - genetics GTP-Binding Protein alpha Subunits - metabolism GTP-Binding Protein alpha Subunits, Gq-G11 - genetics GTP-Binding Protein alpha Subunits, Gq-G11 - metabolism Humans Iris Iris - pathology Melanocytoma Melanoma Melanoma - pathology Molecular Mutation Nevus, Pigmented - pathology Retrospective Studies Skin Neoplasms - pathology Uveal Neoplasms - diagnosis Uveal Neoplasms - genetics Uveal Neoplasms - pathology
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