Skip to main content
. 2019 May;7(10):222. doi: 10.21037/atm.2019.04.46

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.