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

Abstract

<jats:p>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.</jats:p>

Genetics of Glioblastomas in Rare Anatomical Locations: Spinal Cord and Optic Nerve

“…Given the paucity of data on genetic features in GBMs from these rare sites, as noted by Karsy et al , tumors were assessed by immunohistochemistry for IDH1 R132H cytoplasmic expression (1:20 [manufacturer's recommended dilution], Histo Bio Tech/Dianova, Miami Beach, FL, USA), nuclear p53 expression (1:200, Dako Corp., Carpinteria, CA, USA), retention or loss of nuclear ATRX (1:200, alpha thalassemia/mental retardation syndrome X‐linked) immunostaining (using the recommended Sigma‐Aldrich antibody, St. Louis, MO, USA, and Ventana benchmark processing ), and H3.F3A K27 (1:500, Millipore, Temecula, CA, USA). Scoring was subjective for IHC.…”

Knockdown of collagen α‑1(III) inhibits glioma cell proliferation and migration and is regulated by miR128‑3p

“…In addition, according to the World Health Organization (WHO) glioma grading criteria, gliomas can be classified as low-grade (WHO I-II) and high-grade (WHO III-IV) according to their degree of malignancy (2). Despite considerable advances in surgical resection (or a biopsy if surgery cannot be performed), radiotherapy and chemotherapy, the prognosis for glioma has not significantly improved (2,3). Median survival time of patients with glioblastoma multiforme, the most common and malignant type of glioma, is only 14.6 months, and the 5-year survival rate is less than 10% (4)(5)(6).…”

Thoracic Spinal Cord Glioblastoma Mimicking Epidural Abscess: Case Report and Literature Review

“…Temozolomide for SG shows only a modest but statistically insignificant survival benefit in retrospective analysis [ 9 ]. Certain gene mutations seen in intracranial glioblastoma such as p16, PTEN, BRAF, p53 and H3F3A have been correlated to the development of SG [ 10 ]. Future studies will be required to determine if isocitrate dehydrogenase (IDH) mutations or methylation of the O6-methylguanine–DNA methyltransferase (MGMT) gene make adjuvant therapies, such as chemotherapy and radiation, more efficacious in SG as they do in intracranial glioma.…”