Abele, Michael and Forchhammer, Stephan and Eigentler, Thomas K. and Popescu, Aryana and Maschke, Linda and Lohse, Judith and Lehrnbecher, Thomas and Behnisch, Wolfgang and Groll, Andreas H. and Jakob, Marcus and Bernbeck, Benedikt and Brecht, Ines B. and Schneider, Dominik T. (2024) Melanoma of the central nervous system based on neurocutaneous melanocytosis in childhood: A rare but fatal condition. PEDIATRIC BLOOD & CANCER, 71 (4). ISSN 1545-5009, 1545-5017
Full text not available from this repository. (Request a copy)Abstract
BackgroundMelanomas of the central nervous system (CNS) based on neurocutaneous melanocytosis (NCM) are exceptionally rare in childhood and have been described only sporadically. Rapidly progressive disease may represent a major challenge for treating physicians, especially given the limited knowledge about this condition. This analysis aimed to increase knowledge about the occurrence and treatment of these malignancies.ProcedureData on diagnosis, treatment, and outcome of patients aged 0-18 years with CNS melanoma based on NCM recorded in the German Registry for Rare Pediatric Tumors (STEP registry) were analyzed. Additionally, published case reports on this condition were analyzed.ResultsIn STEP, five patients with leptomeningeal melanoma based on NCM were identified, with a median age at melanoma diagnosis of 3.7 years. Various multimodal treatments were performed: (partial) resection (n = 4), irradiation (n = 2), trametinib (n = 3), different cytostatics (n = 2), and anti-GD2 immunotherapy (n = 1). All patients died between 0.3 and 0.8 years after diagnosis. Including published case reports, 27 patients were identified with a median age of 2.8 years at melanoma diagnosis (range: 0.2-16.6). Fourteen of 16 cases with reported data had a NRAS alteration (88%), particularly NRAS p.Q61K (85%). In the expanded cohort, no patient survived longer than 1 year after diagnosis despite multimodal therapy (including trametinib; n = 9), with a median survival of 0.4 years (range 0.1-0.9).ConclusionsCNS melanomas based on NCM in childhood are aggressive malignancies without curative treatment to date. Therapeutic approaches must be individualized. Genetic tumor sequencing is essential to improve understanding of tumorigenesis and potentially identify new therapeutic targets.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | NEVI; MUTATIONS; TUMORS; ABNORMALITIES; ASSOCIATION; CHILDREN; molecular genetics; pediatric oncology; rare tumors; tumor biology |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Kinder- und Jugendmedizin |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 14 Jan 2026 13:58 |
| Last Modified: | 14 Jan 2026 13:58 |
| URI: | https://pred.uni-regensburg.de/id/eprint/65359 |
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