3 documents found, page 1 of 1
The prognostic impact of TERT promoter mutations in glioblastomas is modified b...
Batista, Rui; Cruvinel-Carloni, Adriana; Vinagre, João; Peixoto, Joana; Catarino, Telmo A.; Campanella, Nathalia Cristina; Menezes, WederHuman hotspot TERT promoter (TERTp) mutations have been reported in a wide range of tumours. Several studies have shown that TERTp mutations are associated with clinicopathological features; in some instances, TERTp mutations were considered as biomarkers of poor prognosis. The rs2853669 SNP, located in the TERT promoter region, was reported to modulate the increased TERT expression levels induced by the recurr...
KIAA1549: BRAF gene fusion and FGFR1 hotspot mutations are prognostic factors i...
Becker, Aline Paixão; Scapulatempo-Neto, Cristovam; Carloni, Adriana C.; Paulino, Alessandra; Sheren, Jamie; Aisner, Dara L.; Musselwhite, EvelynUp to 20% of patients with pilocytic astrocytoma (PA) experience a poor outcome. BRAF alterations and Fibroblast growth factor receptor 1 (FGFR1) point mutations are key molecular alterations in Pas, but their clinical implications are not established. We aimed to determine the frequency and prognostic role of these alterations in a cohort of 69 patients with PAs. We assessed KIAA1549:BRAF fusion by fluorescenc...
Expression of methylthioadenosine phosphorylase (MTAP) in pilocytic astrocytomas
Becker, Aline Paixão; Scapulatempo-Neto, Cristovam; Menezes, Weder P.; Clara, Carlos; Machado, Hélio R.; Oliveira, Ricardo S.; Neder, LucianoBACKGROUND/OBJECTIVES Pilocytic astrocytomas (PAs) are the most frequent astrocytomas in children and adolescents. Methilthioadenosine phosphorylase(MTAP) is a tumor-suppressor gene, the loss of expression of which is associated with a poor prognosis and better response to specific chemotherapy in leukemia and non-small-cell lung cancer. The expression of MTAP in brain tumors remains largely unknown and its bio...