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Acta Neuropathologica

, Volume 133, Issue 2, pp 333–335 | Cite as

Copy number variations as potential diagnostic and prognostic markers for CNS melanocytic neoplasms in neurocutaneous melanosis

  • Adriana C. H. van Engen-van Grunsven
  • Katrin Rabold
  • Heidi V. N. Küsters-Vandevelde
  • Jos Rijntjes
  • Melika Djafarihamedani
  • Jayne Y. Hehir-Kwa
  • Benno Küsters
  • Michel A. A. P. Willemsen
  • Ineke van der Burgt
  • Pieter Wesseling
  • Willeke A. M. Blokx
  • Patricia J. T. A. Groenen
Correspondence
  • 290 Downloads

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 [4]. 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...

Keywords

Melanoma Copy Number Variation Cutaneous Melanoma Copy Number Loss Primary Cutaneous Melanoma 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgements

This work was supported by a research grant from the Koppie-Au foundation, Breda, The Netherlands.

Compliance with ethical standards

Conflict of interest

The authors state no conflict of interest.

Supplementary material

401_2016_1654_MOESM1_ESM.docx (35 kb)
Supplementary material 1 (DOCX 34 kb)

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Copyright information

© Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Adriana C. H. van Engen-van Grunsven
    • 1
  • Katrin Rabold
    • 1
  • Heidi V. N. Küsters-Vandevelde
    • 2
  • Jos Rijntjes
    • 1
  • Melika Djafarihamedani
    • 1
  • Jayne Y. Hehir-Kwa
    • 3
  • Benno Küsters
    • 1
    • 4
  • Michel A. A. P. Willemsen
    • 5
  • Ineke van der Burgt
    • 6
  • Pieter Wesseling
    • 7
    • 8
  • Willeke A. M. Blokx
    • 1
  • Patricia J. T. A. Groenen
    • 1
  1. 1.Department of PathologyRadboud University Medical CenterNijmegenThe Netherlands
  2. 2.Department of Pathology (C66)Canisius Wilhelmina HospitalNijmegenThe Netherlands
  3. 3.Department of Human Genetics, Donders Center for NeuroscienceRadboud University Medical CenterNijmegenThe Netherlands
  4. 4.Department of PathologyMaastricht University Medical CenterMaastrichtThe Netherlands
  5. 5.Department of Pediatric NeurologyRadboud University Medical CenterNijmegenThe Netherlands
  6. 6.Department of GeneticsRadboud University Medical CenterNijmegenThe Netherlands
  7. 7.Department of PathologyVU University Medical CenterAmsterdamThe Netherlands
  8. 8.Department of PathologyPrincess Máxima Center for Pediatric Oncology and University Medical Center UtrechtUtrechtThe Netherlands

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