Table 1. Mutations associated with intramedullary spinal cord tumors (IMSCTs).
Tumor | Gene | Locus | Grade | Molecular finding |
---|---|---|---|---|
Ependymoma | HOXB5 | 17q21.3 | I–II | Increased expression in spinal versus intracranial ependymoma |
PLA2G5 | 1p35 | I–II | ||
ITIH2 | 10p15 | I–II | ||
CDKN2A | – | I–II | ||
NF2 | 22q12 | II–III | Characteristic of spinal ependymoma; absent intracranial ependymoma | |
– | 6q | I | Associated with spinal subependymoma | |
Astrocytoma | BRAF | 7q34 | I–II | BRAF-KIAA1549 fusion and other somatic mutations identified in low-grade spinal astrocytoma |
CDKN2A | 9q21 | I | Deletions in 2/10 spinal pilocytic astrocytoma | |
H3F3A | 17q25 | III–IV | Mutation that discriminates grade III–IV spinal astrocytoma from grade I–II tumors | |
Hemangioblastomas | VHL | 3p25.3 | – | Recent WES studies find VHL mutations in sporadic, as well as familial, spinal hemangioblastomas |
WES, whole exome sequencing; VHL, von Hippel-Landau.