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Primary leptomeningeal melanoma: the prognostic significance of its genetic signature and embryological origin
  1. Ali Buckland1,
  2. Celia Green2,
  3. Lay Kun Kho3,4 and
  4. David Prentice5
  1. 1Neurology, Sir Charles Gairdner Hospital, Nedlands, Western Australia, Australia
  2. 2PathWest Laboratory Medicine, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia
  3. 3Neurology, Royal Perth Hospital, Perth, Western Australia, Australia
  4. 4Medicine, St John of God Health Care, Midland, Western Australia, Australia
  5. 5Perron Institute, Queen Elizabeth II Medical Centre, Nedlands, Western Australia, Australia
  1. Correspondence to Dr Ali Buckland; ali.buckland{at}health.wa.gov.au

Abstract

Primary leptomeningeal melanomas are rare, comprising less than one percent of all brain tumours. They are aggressive and radioresistant tumours, with a poor prognosis. The mainstay of treatment is complete surgical resection and chemotherapy with limited success. Distinguishing a primary leptomeningeal melanoma from the more common metastatic disease can be difficult, and often requires the use of ancillary molecular testing. Primary central nervous system melanomas, including uveal melanomas, frequently exhibit mutations in GNAQ and GNA11, rare in the cutaneous and mucosal counterparts.

A case of a primary leptomeningeal melanoma of the cerebellopontine angle is described. Molecular studies identified a GNA11 p.Q209L and a KIT p.M541L missense variant, with losses of chromosomes 1p and 3p demonstrated with cytogenetic studies. Complete surgical resection was not possible and leptomeningeal metastatic disease rapidly ensued despite immunotherapy. Further understanding of the molecular signature may translate to improved diagnosis, prognostication and development of targeted therapies.

  • neurooncology
  • neuro genetics
  • pathology

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Footnotes

  • Contributors All listed authors have appropriately contributed to the design, drafting, review and final approval of this manuscript: Conception: DP and LKK. Data review: AB, CG, LKK and DP. Data interpretation: AB, CG, LKK and DP. Drafting article: AB and DP. Initial reviews: AB and DP. Subsequent reviews: AB, CG, LKK and DP. Critical revision: AB, CG, LKK and DP. Final approval: AB, CG, LKK and DP.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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