RT info:eu-repo/semantics/article
T1 Desmoplastic infantile astrocytoma with atypicalphenotype, PTEN homozygous deletion and BRAF V600E mutation.
A1 Megías Vericat, Javier
A1 San-Miguel, Teresa
A1 Sánchez, Mirian
A1 Navarro Cerveró, Lara
A1 Monleón, Daniel
A1 Calabuig‑Fariñas, Silvia
A1 Morales, José Manuel
A1 Muñoz-Hidalgo, Lisandra
A1 Roldán, Pedro
A1 Cerdá-Nicolás, Miguel J.
A1 López-Ginés, Concha
K1 Desmoplastic infantile astrocytoma
K1 PTEN
K1 BRAF V600E
K1 Atypical
AB Desmoplastic infantile astrocytoma (DIA) is rare, cystic and solid tumor of infants usually found in superficial cerebral hemispheres. Although DIA is usually benign, uncommon cases bearing malignant histological and aggressive clinical features have been described in the literature. We report a newborn patient who was diagnosed with a DIA and died postresection. Pathologic examination revealed that the main part of the tumor had benign features, but the internal region showed areas with a more aggressive appearance, with higher‑proliferative cells, anaplastic GFAP positive cells with cellular polymorphism, necrosis foci, vascular hyperplasia with endothelial proliferation and microtrombosis. Genetic study, performed in both regions of the tumor, showed a BRAF V600E mutation and a homozygous deletion in PTEN, without changes in other relevant genes like EGFR, CDKN2A, TP53, NFKBIA, CDK4, MDM2 and PDGFRA. Although PTEN homozygous deletions are described in gliomas, the present case constitutes the first report of a PTEN mutation in a DIA, and this genetic feature may be related to the malignant behavior of a usually benign tumor. These genetic findings may point at the need of further and deeper genetic characterization of DIAs, in order to better understand the biology of this tumor and to obtain new prognostic approaches, a better clinical management and targeted therapies, especially in malignant cases of DIA.
SN 2051-5960
YR 2022
FD 2022
LK http://riull.ull.es/xmlui/handle/915/36174
UL http://riull.ull.es/xmlui/handle/915/36174
LA en
DS Repositorio institucional de la Universidad de La Laguna
RD 03-jun-2024