Molecular and clinical risk factors for recurrence of skull base chordomas: gain on chromosome 2p, expression of brachyury, and lack of irradiation negatively correlate with patient prognosis

J Neuropathol Exp Neurol. 2013 Sep;72(9):816-23. doi: 10.1097/NEN.0b013e3182a065d0.

Abstract

Chordomas are invasive tumors that develop from notochordal remnants and frequently occur in the skull base. The T gene and its product (brachyury) have recently been suggested to play an important role in chordoma progression. To date, few studies have investigated the relationship between the molecular/genetic characteristics of chordoma and patient prognosis. We analyzed 37 skull base chordomas for chromosomal copy number aberrations using comparative genomic hybridization, brachyury expression by immunohistochemistry, and T gene copy number by fluorescence in situ hybridization. The results of these molecular analyses and clinical parameters were compared with the patients' clinical courses. Univariate analyses using the log-rank test demonstrated that losses on chromosome 1p and gains on 1q and 2p were negatively correlated with progression-free survival, as were factors such as female sex, partial tumor removal, lack of postoperative irradiation, and high MIB-1 index. Expression of brachyury and copy number gain of the T gene were also significantly associated with shorter progression-free survival. Multivariate analysis using the Cox hazards model showed that lack of irradiation, gain on chromosome 2p, and expression of brachyury were independently associated with a poor prognosis. Our results suggest that brachyury-negative chordomas arebiologically distinct from brachyury-positive chordomas and that T/brachyury might be an appropriate molecular therapeutic target for chordoma.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Child
  • Chordoma* / diagnosis
  • Chordoma* / genetics
  • Chordoma* / radiotherapy
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 2*
  • Comparative Genomic Hybridization
  • DNA Copy Number Variations / genetics
  • Disease-Free Survival
  • Female
  • Fetal Proteins / genetics
  • Fetal Proteins / metabolism*
  • Follow-Up Studies
  • Humans
  • Male
  • Middle Aged
  • Multivariate Analysis
  • Neoplasm Recurrence, Local / diagnosis*
  • Neoplasm Recurrence, Local / genetics
  • Prognosis
  • Proportional Hazards Models
  • Retrospective Studies
  • Risk Factors
  • Skull Base Neoplasms* / diagnosis
  • Skull Base Neoplasms* / genetics
  • Skull Base Neoplasms* / radiotherapy
  • T-Box Domain Proteins / genetics
  • T-Box Domain Proteins / metabolism*
  • Young Adult

Substances

  • Fetal Proteins
  • T-Box Domain Proteins
  • Brachyury protein