Genomic Landscape of Intramedullary Astrocytoma

Study Overview
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Brief Summary
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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

Detailed Description
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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.

Official Title
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Genomic Landscape of Intramedullary Astrocytoma

Conditions
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Spinal Cord Astrocytoma

Intervention / Treatment
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* Diagnostic Test: whole-exome sequencing


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: patients that histologically diagnosed as primary spinal cord astrocytoma Exclusion Criteria: patients with spinal cord tumors rather than astrocytoma metastatic astrocytoma tumor sample can not be obtained

Ages Eligible for Study
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Maximum Age: 80 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Intervention/Treatment |
| --- |
|Diagnostic Test: whole-exome sequencing|Fresh frozen or formalin-fixed, paraffin-embedded samples were obtained from patients following resection along with matching peripheral blood samples. whole-exome sequencing will be performed to identify mutations in tumor tissue and matching blood|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| molecular profiling results | mutation identified via whole-exome sequencing will be recored. | 1 month after the surgery | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| overall survival | overall survival of patients with spinal cord astrocytoma will be recorded;defined as the duration from the date of diagnosis to the date of final follow-up or death | 3 years after the diagnosis | 
| progression free survival | progression free survival of patients with spinal cord astrocytoma will be recorded;was defined as the duration from the date of diagnosis to the date of tumor progression or death | 3 years after the diagnosis | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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spinal cord astrocytoma; whole-exome sequencing;