Molecular Biomarkers of Brain and Spinal Cord Astrocytomas

Abstract

Spinal cord astrocytomas are rare diseases of the central nervous system. The localization of these tumors and their infiltrative growth complicate their surgical resection, increase the risk of postoperative complications, and require more careful use of radio- and chemotherapy. The information on the genetic mutations associated with the onset and development of astrocytomas provides a more accurate neoplasm diagnosis and classification. In some cases, it also allows one to determine the optimal methods for treating the neoplasm, as well as to predict the treatment outcomes and the risks of relapse. To date, a number of molecular markers that are associated with brain astrocytomas and possess prognostic value have been identified and described. Due to the significantly lower incidence of spinal cord astrocytomas, the data on similar markers are much more sparse and are presented with a lesser degree of systematization. However, due to the retrospective studies of clinical material that have been actively conducted abroad in recent years, the formation of statistically significant genetic landscapes for various types of tumors, including intradural spinal cord tumors, has begun. In this regard, the purpose of this review is to analyze and systematize the information on the most significant genetic mutations associated with various types of astrocytomas, as well as discuss the prospects for using the corresponding molecular markers for diagnostic and prognostic purposes.

Keywords: diagnosis; glioblastoma; mechanisms of neoplastic transformation; molecular markers; mutations; prognostic value; spinal cord astrocytoma.

Fig. 1

Types of spinal cord tumors: extradural extramedullary (A), intradural extramedullary (B), and intradural intramedullary (C) tumors. 1 – vertebral body, 2 – tumor, 3 – dura mater, and 4 – spinal cord

Fig. 2

incidence of intradural intramedullary primary spinal cord tumors in children under the age of 19 years (n = 1,238) and adult patients (n = 14,822) according to the U.S. Central Brain Tumor Registry (CBTRUS) data report for 2007–2011. The data are presented according to [15] (with modifications)

Fig. 3

Simplified scheme of the signaling pathways associated with the pathogenesis of glial tumors and the impact of the mutations associated with astrocytomas. The data are presented according to [99], with modifications

Fig. 4

The most common genetic changes associated with the development of astrocytomas of various degrees of malignancy. The data are adapted from [100], with modifications