Chordoma ; Skull base ; Tumorigenesis ; Genetics ; Cytogenetics
Abstract
Chordomas are rare, low-to-intermediate grade malignant tumors arising from notochordal
remnants in the midline skeletal axis. They account for <1% of central nervous system tumors
and <5% of all primary malignant bone tumors. It is characterized by slow growth, local
recurrence, and low metastasis rates. An increasing variety of techniques is now available to
detect genetic alterations in chordomas, herein, we review the current knowledge of the
genetic alterations in the skull base chordomas. The distribution of copy number changes is
composed by two approaches; the low-resolution banding karyotyping and high-resolution
whole genome CGH approach. The mapping of candidate genes in chordoma genesis
awaits the application of high resolution targeted approaches. Chromosome 1p36.13 and
7q33 represent a candidate region for a chordoma gene. In gene expression study, many
genes, such as HER2/neu, epidermal growth factor receptor, c-Met, platelet-derived growth
factor receptor A and B, KIT receptors, E-cadherin, neural cell adhesion molecule,
progesterone receptor B, estrogen receptor alpha, transforming growth factor alpha and
basic fibroblast growth factor, fibronectin, and Cathepsin K, are differentially expressed and
act a potential therapeutic target