RT info:eu-repo/semantics/article
T1 BRAF V600E mutation in two distinct meningeal  melanocytomas associated with a nevus of Ota
A1 Muñoz Hidalgo, Lisandra
A1 López Ginés, Concha
A1 Navarro Cerveró, Lara
A1 Callaghan, Robert C.
A1 San Miguel, Teresa
A1 Gil Benso, Rosario
A1 Quilis, Vicent
A1 Botella, Laura
A1 González Darder, José Manuel
A1 Cerdá Nicolás, Miguel J.
K1 BRAF V600E Mutationin
K1 Meningeal Melanocytomas
K1 Nevus of Ota
AB Meningeal melanocytomas are rare tumors of the CNS that develop from melanocytes that are present in leptomeninges, with differing pigmented appearance. They generally occur in the posterior fossa and the spinal cord. This lesion may manifest at any age, but most patients are in the fifth decade of life.1,2 Occasionally, these tumors appear in a complex neurocutaneous grouping with other melanocytic lesions. The nevus of Ota (oculodermal melanocytosis) is a blue hyperpigmented dermal lesion that affects the trigeminal dermatome. The association of a meningeal melanocytoma with an ipsilateral nevus of Ota is extremely rare; to our knowledge, only eight cases have been reported in the literature to date.3,4 In these cases, the melanocytomas were located in the supratentorial area.We present a patient with neurocutaneous melanosis showing a highly pigmented meningeal melanocytoma and a less pigmented meningeal melanocytoma in association with a meningeal melanocytosis and a congenital nevus of Ota. We have analyzed the histopathologic and molecular characteristics of these lesions. To our knowledge, this is the first report of melanocytomas with mutations in BRAF, PTEN, and NF2, genes that are involved in the melanomagenesis process.
YR 2014
FD 2014
LK http://riull.ull.es/xmlui/handle/915/36184
UL http://riull.ull.es/xmlui/handle/915/36184
LA en
DS Repositorio institucional de la Universidad de La Laguna
RD 10-may-2024