RT info:eu-repo/semantics/article
T1 Identification of a novel BRCA1 alteration in recurrent melanocytoma resulting in an increased proliferation
A1 San-Miguel, Teresa
A1 Navarro Cerveró, Lara
A1 Sánchez-Sendra, Beatriz
A1 Megías Vericat, Javier
A1 Muñoz-Hidalgo, Lisandra
A1 Santonja-López, Nuria
A1 López-Ginés, Concha
A1 Cerdá-Nicolás, Miguel J.
K1 BRCA1
K1 GNAQ
K1 GSTP1
K1 Melanocytoma
K1 Meningioma
K1 MLPA
K1 Uveal melanoma
AB Primary meningeal melanocytomas are rare tumors of the central nervous system. Although they are considered benign neoplasms, some reports describe recurrent rates up to 45%. Little is known about their genetic and epigenetic landscape because of their infrequency. Even less has been described about markers with prognostic value. Here we describe a patient who developed a primary meningeal melanocytoma, suffered 3 recurrences in a period of 6 years and died of the tumor. The genetic and epigenetic changes explored confirmed GNAQ mutation as an initiating event. We found an epigenetic alteration of GSTP1, a feature that has recently been described in meningiomas, from the beginning of the disease. In addition, there was loss of heterozygosity in BRCA1 beginning in the second recurrence that was linked to an increase in the proliferation index; this suggested a progression pathway similar to the one described in uveal melanomas. These findings underscore the necessity of further research focused on these tumors.
SN 0022-3069
YR 2020
FD 2020
LK http://riull.ull.es/xmlui/handle/915/36189
UL http://riull.ull.es/xmlui/handle/915/36189
LA en
DS Repositorio institucional de la Universidad de La Laguna
RD 15-may-2024