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Brain Tumor Pathology

, Volume 35, Issue 4, pp 217–223 | Cite as

NRASQ61K mutated diffuse leptomeningeal melanomatosis in an adult patient with a brief review of the so-called “forme fruste” of neurocutaneous melanosis

  • Ilaria Girolami
  • Luca Cima
  • Claudio Ghimenton
  • Marina Zannoni
  • Aldo Mombello
  • Giulio Riva
  • Vito Cirielli
  • Gabriele Corradi
  • Alberto Vogrig
  • Gioia Di Stefano
  • Luca Novelli
  • Marco Gessi
  • Albino Eccher
Case Report
  • 81 Downloads

Abstract

Primary melanocytic tumors of central nervous system represent rare tumors arising from melanocytes of the leptomeninges. These neoplasms include focal forms like melanocytoma and primary malignant melanoma and diffuse forms like leptomeningeal melanocytosis and primary leptomeningeal melanomatosis. The clinical diagnosis remains challenging, with clinical and radiologic features overlapping with other more common diseases. Here we present a case of a 38 years old male with primary diffuse leptomeningeal melanomatosis with presence of a NRASQ61K mutation without features of neurocutaneous melanosis.

Keywords

Meningeal neoplasms Primary melanocytic tumors Melanomatosis Autopsy NRAS 

Notes

Author contributions

IG: study design; data collection; data interpretation; manuscript preparation; literature search; review and approval of the final manuscript. LC: study design; data collection; data interpretation; manuscript preparation; review and approval of the final manuscript. CG: data collection; data interpretation; review and approval of the final manuscript. MZ: review and approval of the final manuscript. AM: data collection; data interpretation; review and approval of the final manuscript. GR: review and approval of the final manuscript. VC: review and approval of the final manuscript. GC: data collection, data interpretation, review and approval of the final manuscript. AV: review and approval of the final manuscript. GDS: language editing, review and approval of final manuscript. LN: review and approval of the final manuscript. MG: data interpretation, manuscript preparation, review and approval of the final manuscript. AE: data interpretation; review and approval of the final manuscript.

Funding

Internal Funding, Department of Pathology and Diagnostics, University and Hospital Trust of Verona (AM, FUR 2016).

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interests.

Ethical standards

This study was approved by the institutional review board of the University of Verona in accordance with the ethical standards of the 1964 Declaration of Helsinki and its later amendments.

Informed consent

Informed consent was acquired from the family of the patient in order to perform autopsy and subsequent investigations.

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Copyright information

© The Japan Society of Brain Tumor Pathology 2018

Authors and Affiliations

  • Ilaria Girolami
    • 1
  • Luca Cima
    • 1
  • Claudio Ghimenton
    • 1
  • Marina Zannoni
    • 1
  • Aldo Mombello
    • 1
  • Giulio Riva
    • 1
  • Vito Cirielli
    • 2
  • Gabriele Corradi
    • 1
  • Alberto Vogrig
    • 3
  • Gioia Di Stefano
    • 4
  • Luca Novelli
    • 4
  • Marco Gessi
    • 5
  • Albino Eccher
    • 1
  1. 1.Pathology Unit, Department of Pathology and DiagnosticsUniversity and Hospital Trust of VeronaVeronaItaly
  2. 2.Legal Medicine and Forensic Pathology Unit, Department of Pathology and DiagnosticsUniversity and Hospital Trust of VeronaVeronaItaly
  3. 3.Department of NeurosciencesSanta Maria della Misericordia University HospitalUdineItaly
  4. 4.Institute of Histopathology and Molecular DiagnosisCareggi HospitalFlorenceItaly
  5. 5.Histopathology DivisionCatholic University Medical SchoolRomeItaly

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