Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis
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Neurocutaneous melanosis (NCM) is a very rare congenital syndrome characterized by large or multiple congenital melanocytic nevi (CMN) of the skin and central nervous system (CNS) melanotic/melanocytic lesions. The latter range from intraparenchymal melanin deposits to benign or malignant proliferations of melanocytic cells in the leptomeninges that may be localized (melanocytoma/melanoma) or diffuse (melanocytosis/melanomatosis) [3, 7]. Once NCM patients develop neurological symptoms, prognosis is usually poor, especially for CNS melanoma, but also symptomatic (and histologically confirmed ‘benign’) melanocytosis often has a poor prognosis . As such, histological features of CNS melanocytic tumours (CNS-MTs) do not correlate very well with clinical outcome in NCM patients, and at present, molecular features that might aid in this are lacking.
In contrast to cutaneous lesions in NCM, it is unknown whether CNS-MTs harbor copy number variations (CNVs) with diagnostic and/or prognostic...
KeywordsMelanoma Copy Number Variation Cutaneous Melanoma Copy Number Loss Primary Cutaneous Melanoma
This work was supported by a research grant from the Koppie-Au foundation, Breda, The Netherlands.
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Conflict of interest
The authors state no conflict of interest.
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