The genetic basis of intradural spinal tumors and its impact on clinical treatment

Neurosurg Focus. 2015 Aug;39(2):E3. doi: 10.3171/2015.5.FOCUS15143.


Genetic alterations in the cells of intradural spinal tumors can have a significant impact on the treatment options, counseling, and prognosis for patients. Although surgery is the primary therapy for most intradural tumors, radiochemothera-peutic modalities and targeted interventions play an ever-evolving role in treating aggressive cancers and in addressing cancer recurrence in long-term survivors. Recent studies have helped delineate specific genetic and molecular differences between intradural spinal tumors and their intracranial counterparts and have also identified significant variation in therapeutic effects on these tumors. This review discusses the genetic and molecular alterations in the most common intradural spinal tumors in both adult and pediatrie patients, including nerve sheath tumors (that is, neurofibroma and schwannoma), meningioma, ependymoma, astrocytoma (that is, low-grade glioma, anaplastic astrocytoma, and glioblastoma), hemangioblastoma, and medulloblastoma. It also examines the genetics of metastatic tumors to the spinal cord, arising either from the CNS or from systemic sources. Importantly, the impact of this knowledge on therapeutic options and its application to clinical practice are discussed.

Keywords: ALK = anaplastic lymphoma kinase; BRAF = B-Raf proto-oncogene, serine/threonine kinase; EGFR = epidermal growth factor receptor; GBM = glioblastoma; HIF1α = hypoxia-inducible factor 1α; ISCM = intramedullary spinal cord metastasis; MAPK = mitogen-activated protein kinase; MMP-9 = matrix metalloproteinase 9; NF = neurofibromin; NST = nerve sheath tumor; PDGF = platelet-derived growth factor; PI3K = phosphoinositide 3-kinase; PKB = protein kinase B; PTEN = phosphatase and tensin homolog; SHH = sonic hedgehog; SMARCE1 = SWI/SNF-related matrix-associated actin-dependent regulator of chromatin E1; VEGF = vascular endothelial growth factor; VHL = von Hippel-Lindau; astrocytoma; ependymoma; genetics; hemangioblastoma; mTOR = mechanistic target of rapamycin; molecular biology; neurofibroma; p53 = the protein p53; spinal tumor.

Publication types

  • Review

MeSH terms

  • Adult
  • Age Factors
  • Astrocytoma / genetics
  • Child
  • Ependymoma / genetics
  • Hemangioblastoma / genetics
  • Humans
  • Medulloblastoma / genetics
  • Meningioma / genetics
  • Neoplasm Grading
  • Neoplasm Metastasis / genetics*
  • Nerve Sheath Neoplasms / genetics
  • Practice Guidelines as Topic*
  • Prognosis
  • Proto-Oncogene Mas
  • Spinal Cord / metabolism*
  • Spinal Cord / pathology
  • Spinal Cord Neoplasms / classification
  • Spinal Cord Neoplasms / genetics*
  • Spinal Cord Neoplasms / secondary
  • Spinal Cord Neoplasms / therapy