Spinal Cord Astrocytoma
Conditions
Keywords
spinal cord astrocytoma; whole-exome sequencing;
Brief summary
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
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.
Interventions
DIAGNOSTIC_TESTwhole-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
Sponsors
Xuanwu Hospital, Beijing
Study design
Observational model
CASE_ONLY
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 80 Years
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| molecular profiling results | 1 month after the surgery | mutation identified via whole-exome sequencing will be recored. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| overall survival | 3 years after the diagnosis | 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 |
| progression free survival | 3 years after the diagnosis | 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 |
Countries
China
Contacts
Primary ContactFengzeng Jiang, M.D.
Outcome results
None listed