Primary melanocytic tumors of the central nervous system: A review with focus on molecular aspects

Heidi V.N. Küsters-Vandevelde, Benno Küsters, Adriana C.H. Van Engen-Van Grunsven, Patricia J.T.A. Groenen, Pieter Wesseling, Willeke A.M. Blokx

Onderzoeksoutput: Bijdrage aan tijdschriftArtikel recenserenpeer review

84 Citaten (Scopus)

Samenvatting

Primary melanocytic tumors of the central nervous system (CNS) represent a spectrum of rare tumors. They can be benign or malignant and occur in adults as well as in children, the latter often in the context of neurocutaneous melanosis. Until recently, the genetic alterations in these tumors were largely unknown. This is in contrast with cutaneous and uveal melanomas, which are known to harbor distinct oncogenic mutations that can be used as targets for treatment with small-molecule inhibitors in the advanced setting. Recently, novel insights in the molecular alterations underlying primary melanocytic tumors of the CNS were obtained, including different oncogenic mutations in tumors in adult patients (especially GNAQ, GNA11) vs. children (especially NRAS). In this review, the focus is on molecular characteristics of primary melanocytic tumors of the CNS. We summarize what is known about their genetic alterations and discuss implications for pathogenesis and differential diagnosis with other pigmented tumors in or around the CNS. Finally, new therapeutic options with targeted therapy are discussed.

Originele taal-2Engels
Pagina's (van-tot)209-226
Aantal pagina's18
TijdschriftBrain Pathology
Volume25
Nummer van het tijdschrift2
DOI's
StatusGepubliceerd - 1 mrt. 2015
Extern gepubliceerdJa

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