• Journals
  • Discipline
  • Indexed
  • Institutions
  • About
JavaScript is disabled for your browser. Some features of this site may not work without it.
View Item 
  •   Home
  • Pontificia Universidad Católica de Chile
  • Ars Médica: Revista de Ciencias Médicas
  • View Item
  •   Home
  • Pontificia Universidad Católica de Chile
  • Ars Médica: Revista de Ciencias Médicas
  • View Item

Prognostic value of mutations in isocitrate dehydrogenase 1 (IDH1) and reverse telomerase transcriptase (TERT) in Argentine patients` gliomas: Valor pronóstico de mutaciones en Isocitrato dehidrogenasa1 (IDH1) y Telomerasa transcriptasa reversa (TERT) en gliomas de pacientes argentinos

Author
Funes, Pedro Tomás

Moggia, Daniela

Parma, Diana Lidia

Ferrer, Marcela

Giliberto, Florencia

Szijan, Irene

Full text
https://arsmedica.cl/index.php/MED/article/view/1768
10.11565/arsmed.v46i1.1768
Abstract
Background and aim: Gliomas are the most common primary brain tumors, and they are classified according to their histopathological and genetic features. Tumorigenesis depends on alterations in different genes. The aim of this study was to identify mutations in IDH1 and TERT genes in gliomas of Argentine patients and to correlate them with clinical features. Methods. DNA was isolated from 19 biopsies with different glioma grades matched with blood samples. IDH1 and TERT mutations were identified by PCR amplification and sequencing. Results. Six out of seven patients with low-grade glioma (grade II) harbor IDH1 mutations, mainly without tumor growth and an overall survival of more than 12 months. Eleven out of twelve patients with high-grade gliomas (grade III/IV) showed wild type IDH1, mainly with tumor growth and shorter survival than low-grade gliomas. Mutated TERT promoter was present in 5 out of 11 high-grade gliomas, showing the prevalence of polymorphic C allele, whereas, low-grade gliomas showed mutated TERT in 1 out of 5 gliomas and a predominance of T allele. TERT and IDH1 mutations were mutually exclusive in most gliomas. Conclusions: Our results show that genetic tests provided more accurate diagnosis than histopathological analysis. Evolution of gliomas can be predicted primarily by the mutational status of IDH1 and secondarily by other markers, such as TERT mutational status, and the patient´s age.
Metadata
Show full item record
Discipline
Artes, Arquitectura y UrbanismoCiencias Agrarias, Forestales y VeterinariasCiencias Exactas y NaturalesCiencias SocialesDerechoEconomía y AdministraciónFilosofía y HumanidadesIngenieríaMedicinaMultidisciplinarias
Institutions
Universidad de ChileUniversidad Católica de ChileUniversidad de Santiago de ChileUniversidad de ConcepciónUniversidad Austral de ChileUniversidad Católica de ValparaísoUniversidad del Bio BioUniversidad de ValparaísoUniversidad Católica del Nortemore

Browse

All of DSpaceCommunities & CollectionsBy Issue DateAuthorsTitlesSubjectsThis CollectionBy Issue DateAuthorsTitlesSubjects

My Account

LoginRegister
Dirección de Servicios de Información y Bibliotecas (SISIB) - Universidad de Chile
© 2019 Dspace - Modificado por SISIB