Genomic Landscape of Intramedullary Astrocytoma

Overview

intramedullary astrocytoma is a rare and devastating spinal cord glioma. while the management of intracranial astrocytoma includes gross total resection, radiotherapy and chemotherapy, spinal cord astrocytoma is very difficult to be totally removed due to its infiltrative nature and unclear plane of dissection; Moreover, the use radiotherapy and chemotherapy for spinal cord astrocytoma is controversial. Therefore, the treatment for spinal cord astrocytoma is very limited as compared to its intracranial counterpart. Inadequate understanding of spinal cord astrocytoma mainly contribute to limited treatment, while the molecular profiling of intracranial astrocytoma is relatively well understood. Hence, we performed whole-exome sequencing of intramedullary astrocytoma aiming to identify the pathophysiological mechanisms underlying spinal cord astrocytoma

Intramedullary tumor only account for 2-4% of central nervous tumor. Of which, ependymoma and astrocytoma represent the most common intramedullary tumor. Although intramedullary astrocytoma is rare, it can cause significant mortality and morbidity. Different from its intracranial counterpart which can receive gross total resection and standard adjuvant treatment, intramedullary astrocytoma always cannot be removed completed due to its infiltrative nature and, additionally, radiotherapy and chemotherapy is controversial. Therefore, the treatment for this tumor is very limited. While the genetic profiling of intracranial astrocytoma is relatively well understood and standard treatment strategy has been developed, genetic alteration of intramedullary astrocytoma is less well understood. Identification of the molecular profiling can lead to well understanding of the pathophysiological mechanisms underlying intramedullary astrocytoma and more effective therapeutic strategy in future. Hence, we performed this study aiming to investigate the genetic profiling of intramedullary. All patients with intramedullary astrocytoma underwent surgery in our institution will be enrolled. Tumor tissue and matching blood will be obtained after the surgery. Whole-exome sequencing was performed on DNA extracted from these specimens. Moreover, demographic information, progress-free survival and overall survival will be evaluated in 3 year of follow-up after the initial diagnosis.