Neurocutaneous Melanocytosis and Leptomeningeal Melanoma

J Pediatr Hematol Oncol. 2021 Mar 1;43(2):e195-e197. doi: 10.1097/MPH.0000000000001680.

Abstract

Neurocutaneous melanocytosis (NCM) is a disorder characterized by multiple or large congenital nevi and excessive proliferation of melanocytes in the leptomeninges and brain parenchyma. The majority of NCM is a result of somatic mosaicism due to a single postzygotic mutation in codon 61 of NRAS. Patients with NCM are at high risk of developing leptomeningeal melanoma. The prognosis for leptomeningeal melanoma is poor with no known effective treatment options. We describe the clinical features, treatment, and outcome of 4 children with NCM and leptomeningeal melanoma and discuss the latest molecular findings and treatment options for this rare condition.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • GTP Phosphohydrolases / genetics*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Melanoma / drug therapy
  • Melanoma / etiology
  • Melanoma / pathology*
  • Melanosis / complications*
  • Melanosis / genetics
  • Melanosis / pathology
  • Membrane Proteins / genetics*
  • Meningeal Neoplasms / drug therapy
  • Meningeal Neoplasms / etiology
  • Meningeal Neoplasms / pathology*
  • Mutation
  • Neurocutaneous Syndromes / complications*
  • Neurocutaneous Syndromes / genetics
  • Neurocutaneous Syndromes / pathology
  • Prognosis
  • Retrospective Studies
  • Young Adult

Substances

  • Membrane Proteins
  • GTP Phosphohydrolases
  • NRAS protein, human