Melanocytic tumors

Roth, Patrick; Yanez, Loreto; Mao, Ying; Ligon, Keith

doi:10.1093/med/9780198869702.003.0018

Abstract

Primary central nervous system (CNS) melanocytic tumors are a group of different neoplasms that are believed to arise from leptomeningeal melanocytes. Melanocytosis and melanomatosis are diffuse lesions that are mainly characterized by their distinctive growth pattern, without forming solid tumoral masses. In contrast to melanocytosis, which is a benign lesion, melanomatosis is a malignant tumor. Melanocytomas are solid tumors that present as a mass. They can be classified as benign or intermediate, depending on their histological characteristics. Malignant solid tumors are classified as primary meningeal melanoma. In contrast to classical melanoma, BRAF and NRAS mutations are rare in primary melanocytic tumors of the CNS. However, mutations in the GNAQ or GNA11 genes are found in more than half of these tumors. Melanocytic CNS tumors are mostly found in the posterior fossa and in the spinal cord. The clinical presentation is heterogeneous and may include symptoms attributed to hydrocephalus such as headache and nausea. Solid tumor masses may cause various focal neurological deficits. Treatment options are not well established. Surgery is typically required to allow for a histological and molecular diagnosis and may be helpful to remove solid masses such as melanocytoma or primary meningeal melanoma. Radiotherapy has been used, either alone or in addition to surgery. Systemic pharmacotherapy may be used on an individual basis and depending on the molecular characteristics of the tumor.

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