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Updated: Apr 19, 2026
Laser Microdissection-Based Protocol for the LC-MS/MS Analysis of the Proteomic Profile of Neuromelanin Granules
Published on: December 16, 2021
Primary melanocytic tumors of the central nervous system: a review with focus on molecular aspects
Heidi V N Küsters-Vandevelde1, Benno Küsters, Adriana C H van Engen-van Grunsven
1Department of Pathology, Canisius Wilhelmina Hospital, P.O. Box 9015, 6500 GS, Nijmegen.
Abstract:
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.
Insights
Primary melanocytic tumors of the central nervous system (CNS) have distinct genetic alterations. Adult CNS tumors show GNAQ/GNA11 mutations, while pediatric tumors often have NRAS mutations, guiding targeted therapies.
Area of Science:
- Neuro-oncology
- Molecular Pathology
- Genetics
Background:
- Primary melanocytic tumors of the central nervous system (CNS) are rare, encompassing benign and malignant neoplasms.
- Genetic alterations in CNS melanocytic tumors were largely unknown, unlike cutaneous and uveal melanomas.
- Neurocutaneous melanosis is a condition associated with pediatric CNS melanocytic tumors.
Purpose of the Study:
- To review the molecular characteristics of primary melanocytic tumors of the CNS.
- To summarize known genetic alterations in these tumors.
- To discuss implications for pathogenesis, differential diagnosis, and targeted therapy.
Main Methods:
- Literature review focusing on molecular alterations in primary CNS melanocytic tumors.
- Analysis of genetic mutations identified in adult versus pediatric cases.
- Discussion of diagnostic and therapeutic implications based on molecular findings.
Main Results:
- Distinct oncogenic mutations characterize CNS melanocytic tumors in different age groups.
- Adult tumors frequently harbor GNAQ and GNA11 mutations.
- Pediatric tumors, particularly those associated with neurocutaneous melanosis, often exhibit NRAS mutations.
Conclusions:
- Molecular profiling reveals key differences in CNS melanocytic tumors between adults and children.
- Understanding these genetic alterations is crucial for accurate diagnosis and developing targeted therapeutic strategies.
- Targeted therapies hold promise for treating advanced primary CNS melanocytic tumors based on identified mutations.
