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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
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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| whole-exome sequencing | Diagnostic Test | 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 |
| Measure | Description | Time Frame |
|---|---|---|
| molecular profiling results | mutation identified via whole-exome sequencing will be recored. | 1 month after the surgery |
| 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 |
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Inclusion Criteria:
Exclusion Criteria:
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patients who was histologically diagnosed as primary spinal cord astrocytoma or was suspected of primary spinal cord astrocytoma will be enrolled. But patiens who was suspected of primary spinal cord astrocytoma preoperatively but was confirmed as tumor rather than astrocytoma postoperatively via histology will be excluded.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Fengzeng Jiang, M.D. | Contact | +8613552067268 | fengzengjiang@hotmail.com |
| Name | Affiliation | Role |
|---|---|---|
| Fengzeng Jian | Xuanwu Hospital, Capitial Medical University | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Xuanwu Hospital, China International Neuroscience Institute, Capital Medical University | Recruiting | Beijing | 100053 | China |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 31565645 | Background | Ogunlade J, Wiginton JG 4th, Elia C, Odell T, Rao SC. Primary Spinal Astrocytomas: A Literature Review. Cureus. 2019 Jul 26;11(7):e5247. doi: 10.7759/cureus.5247. | |
| 29118226 | Background | Nabors LB, Portnow J, Ammirati M, Baehring J, Brem H, Butowski N, Fenstermaker RA, Forsyth P, Hattangadi-Gluth J, Holdhoff M, Howard S, Junck L, Kaley T, Kumthekar P, Loeffler JS, Moots PL, Mrugala MM, Nagpal S, Pandey M, Parney I, Peters K, Puduvalli VK, Ragsdale J, Rockhill J, Rogers L, Rusthoven C, Shonka N, Shrieve DC, Sills AK, Swinnen LJ, Tsien C, Weiss S, Wen PY, Willmarth N, Bergman MA, Engh A. NCCN Guidelines Insights: Central Nervous System Cancers, Version 1.2017. J Natl Compr Canc Netw. 2017 Nov;15(11):1331-1345. doi: 10.6004/jnccn.2017.0166. |
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| ID | Term |
|---|---|
| D059472 | Exome |
| ID | Term |
|---|---|
| D016678 | Genome |
| D040342 | Genetic Structures |
| D055614 | Genetic Phenomena |
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tumor resected and matched blood
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 |
| 23433793 | Background | Guss ZD, Moningi S, Jallo GI, Cohen KJ, Wharam MD, Terezakis SA. Management of pediatric spinal cord astrocytomas: outcomes with adjuvant radiation. Int J Radiat Oncol Biol Phys. 2013 Apr 1;85(5):1307-11. doi: 10.1016/j.ijrobp.2012.11.022. Epub 2013 Feb 20. |
| 20526650 | Background | Kim WH, Yoon SH, Kim CY, Kim KJ, Lee MM, Choe G, Kim IA, Kim JH, Kim YJ, Kim HJ. Temozolomide for malignant primary spinal cord glioma: an experience of six cases and a literature review. J Neurooncol. 2011 Jan;101(2):247-54. doi: 10.1007/s11060-010-0249-y. Epub 2010 Jun 5. |
| 16448901 | Background | Chi JH, Cachola K, Parsa AT. Genetics and molecular biology of intramedullary spinal cord tumors. Neurosurg Clin N Am. 2006 Jan;17(1):1-5. doi: 10.1016/j.nec.2005.10.002. No abstract available. |
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| 26142051 | Result | Liu A, Sankey EW, Bettegowda C, Burger PC, Jallo GI, Groves ML. Poor prognosis despite aggressive treatment in adults with intramedullary spinal cord glioblastoma. J Clin Neurosci. 2015 Oct;22(10):1628-31. doi: 10.1016/j.jocn.2015.05.008. Epub 2015 Jun 30. |
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| 23322747 | Result | Fakhreddine MH, Mahajan A, Penas-Prado M, Weinberg J, McCutcheon IE, Puduvalli V, Brown PD. Treatment, prognostic factors, and outcomes in spinal cord astrocytomas. Neuro Oncol. 2013 Apr;15(4):406-12. doi: 10.1093/neuonc/nos309. Epub 2013 Jan 14. |
| 30460627 | Result | Moinuddin FM, Alvi MA, Kerezoudis P, Wahood W, Meyer J, Lachance DH, Bydon M. Variation in management of spinal gliobastoma multiforme: results from a national cancer registry. J Neurooncol. 2019 Jan;141(2):441-447. doi: 10.1007/s11060-018-03054-2. Epub 2018 Nov 20. |
| 26443345 | Result | Shows J, Marshall C, Perry A, Kleinschmidt-DeMasters BK. Genetics of Glioblastomas in Rare Anatomical Locations: Spinal Cord and Optic Nerve. Brain Pathol. 2016 Jan;26(1):120-3. doi: 10.1111/bpa.12327. No abstract available. |
| 31822682 | Result | Zhang M, Iyer RR, Azad TD, Wang Q, Garzon-Muvdi T, Wang J, Liu A, Burger P, Eberhart C, Rodriguez FJ, Sciubba DM, Wolinsky JP, Gokaslan Z, Groves ML, Jallo GI, Bettegowda C. Genomic Landscape of Intramedullary Spinal Cord Gliomas. Sci Rep. 2019 Dec 10;9(1):18722. doi: 10.1038/s41598-019-54286-9. |
| 26487540 | Result | Shankar GM, Lelic N, Gill CM, Thorner AR, Van Hummelen P, Wisoff JH, Loeffler JS, Brastianos PK, Shin JH, Borges LF, Butler WE, Zagzag D, Brody RI, Duhaime AC, Taylor MD, Hawkins CE, Louis DN, Cahill DP, Curry WT, Meyerson M. BRAF alteration status and the histone H3F3A gene K27M mutation segregate spinal cord astrocytoma histology. Acta Neuropathol. 2016 Jan;131(1):147-50. doi: 10.1007/s00401-015-1492-2. No abstract available. |