Pathological and Molecular Diagnosis of Uveal Melanoma

Autor: Mihai Adrian Păsărică, Paul Filip Curcă, Christiana Diana Maria Dragosloveanu, Alexandru Călin Grigorescu, Cosmin Ionuț Nisipașu
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Diagnostics, Vol 14, Iss 9, p 958 (2024)
Druh dokumentu: article
ISSN: 2075-4418
DOI: 10.3390/diagnostics14090958
Popis: (1) Background: Uveal melanoma (UM) is a common malignant intraocular tumor that presents with significant genetic differences to cutaneous melanoma and has a high genetic burden in terms of prognosis. (2) Methods: A systematic literature search of several repositories on uveal melanoma diagnosis, prognosis, molecular analysis, and treatment was conducted. (3) Results: Recent genetic understanding of oncogene-initiation mutations in GNAQ, GNA11, PLCB4, and CYSLTR2 and secondary progression drivers of BAP1 inactivation and SF3B1 and EIF1AX mutations offers an appealing explanation to the high prognostic impact of adding genetic profiling to clinical UM classification. Genetic information could help better explain peculiarities in uveal melanoma, such as the low long-term survival despite effective primary tumor treatment, the overwhelming propensity to metastasize to the liver, and possibly therapeutic behaviors. (4) Conclusions: Understanding of uveal melanoma has improved step-by-step from histopathology to clinical classification to more recent genetic understanding of oncogenic initiation and progression.
Databáze: Directory of Open Access Journals
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