OTX1 and OTX2 Genes in Medulloblastoma

World Neurosurg. 2019 Jul:127:e58-e64. doi: 10.1016/j.wneu.2019.02.013. Epub 2019 Feb 21.


Objective: To study the prevalence of OTX1 and OTX2 gene expression in 60 medulloblastoma specimen samples and to establish correlations between gene expression and clinical and histopathological aspects.

Methods: We performed a retrospective analysis of 60 patients with a diagnosis of medulloblastoma at the Clinicas Hospital of the School of Medicine, University of São Paulo, and the Cancer Hospital of Barretos. We created a database of the 60 patients containing information on the gene expression of OTX1 and OTX2 (obtained using real-time polymerase chain reaction) and clinical and epidemiological data. Statistical tests were performed to verify potential correlations of clinicopathological data and follow-up aspects with gene expression.

Results: The OTX1 gene was expressed in 52% of the study population. Expression varied with age (higher in adults), location (predominantly by hemisphere), and histological type (desmoplastic). The OTX2 gene was expressed in 62% of the study population. Expression varied with age (higher in younger age groups), location (predominantly vermis), and histological type (classic and anaplastic). A statistical correlation between OTX2 gene expression and the development of leptomeningeal metastases was observed.

Conclusions: The relative expression of OTX1 and OTX2 was dependent on patient age, tumor location, and histological variant. In addition, OTX2 expression might be a predictive factor for leptomeningeal metastases of medulloblastoma. The OTX pathway should be consider as an important venue for medulloblastomas development.

Keywords: Classic; Desmoplastic; Medulloblastoma; OTX1 gene; OTX2 gene.

MeSH terms

  • Adolescent
  • Adult
  • Age Factors
  • Brazil
  • Cerebellar Neoplasms / epidemiology
  • Cerebellar Neoplasms / genetics*
  • Cerebellar Neoplasms / therapy
  • Child
  • Child, Preschool
  • Female
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Infant
  • Kaplan-Meier Estimate
  • Male
  • Medulloblastoma / epidemiology
  • Medulloblastoma / genetics*
  • Medulloblastoma / secondary
  • Medulloblastoma / therapy
  • Meningeal Neoplasms / secondary
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Otx Transcription Factors / genetics*
  • Real-Time Polymerase Chain Reaction
  • Retrospective Studies
  • Young Adult


  • Neoplasm Proteins
  • OTX1 protein, human
  • OTX2 protein, human
  • Otx Transcription Factors