Fatal GNAQ‐mutated CNS melanoma in an adolescent with nevus of Ota. Issue 2 (9th January 2021)

• Record Type: Journal Article
• Authors: Blundell, Andrew R.; Moustafa, Danna; Samore, Wesley R.; Hawryluk, Elena B.
• Is Part Of: Pediatric dermatology. Volume 38:Issue 2(2021)
• Page Start: 497
• Page End: 499
• Publication Date: 2021-01-09
• Subjects: fuscoceruleus ophthalmomaxillaris -- GNAQ mutation -- leptomeningeal disease -- nevus of Ota -- ocular melanocytosis -- pediatric dermatology -- pediatric melanoma -- primary CNS melanoma; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.14501
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: Nevus of Ota is an uncommon benign mesodermal melanosis that involves the first and second divisions of the trigeminal nerve. Primary non‐cutaneous melanoma often involves distinct genetic mutations compared to cutaneous melanoma. In primary central nervous system (CNS) melanomas associated with nevus of Ota, somatic mutations most commonly occur at the Q209 and R183 residues of GNAQ and likely induce tumorigenesis through upregulation of the MAP kinase pathway. This case underscores the importance of elucidating neurologic symptoms early in patients with nevus of Ota, as a delayed presentation of CNS melanoma could portend a devastating outcome.