Neurospine.  2022 Jun;19(2):262-271. 10.14245/ns.2244168.084.

Recent Molecular and Genetic Findings in Intramedullary Spinal Cord Tumors

Affiliations
  • 1Department of Neurosurgery, Nagoya University School of Medicine, Nagoya, Japan
  • 2Department of Neurosurgery, National Hospital Organization Nagoya Medical Center, Nagoya, Japan
  • 3Department of Neurosurgery, Aichi Cancer Center Hospital, Nagoya, Japan
  • 4Department of Neurosurgery, Inazawa Municipal Hospital, Aichi, Japan

Abstract

The study of genetic alterations and molecular biology in central nervous system (CNS) tumors has improved the accuracy of estimations of patient prognosis and tumor categorization. Therefore, the updated 2021 World Health Organization (WHO) classification includes various diagnostic genes, molecules, and pathways for diagnosis, as well as histological findings. These findings are expected both to have diagnostic applications and to facilitate new targeted therapies that target tumor-specific genetic changes and molecular biology. Intramedullary spinal cord tumors (IMSCTs) are rare CNS tumors that are difficult to treat because they occur in eloquent areas. Although the genetic underpinnings of IMSCTs remain unclear compared to their intracranial counterparts, the genetic characteristics of these tumors are gradually being revealed. Here, we describe the major changes in the new 2021 WHO classification and review the major types of IMSCTs, with an emphasis on their clinical features and genetic alterations.

Keyword

Intramedullary spinal cord tumor; Astrocytoma; Ependymoma; Hemangioblastoma; Genomics; Genetics
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