Molecular variants and mutations in medulloblastoma.
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Medulloblastoma is the commonest malignant brain tumor in children. Treatment with surgery, irradiation, and chemotherapy has improved outcomes in recent years, but patients are frequently left with devastating neurocognitive and other sequelae following such therapy. While the prognosis has traditionally been based on conventional histopathology and clinical staging (based on age, extent of resection, and presence or absence of metastasis), it has become apparent in recent years that the inherent biology of the tumor plays a significant part in predicting survival and sometimes supersedes clinical or pathologic risk factors. The advent of deep sequencing gene technology has provided invaluable clues to the molecular makeup of this tumor and allowed neuro-oncologists to understand that medulloblastoma is an amalgamation of several distinct disease entities with unique clinical associations and behavior. This review is a concise summary of the pathology, genetic syndromes, recent advances in molecular subgrouping, and the associated gene mutations and copy number variations in medulloblastoma. The association of molecular alterations with patient prognosis is also discussed, but it should be remembered that further validation is required in prospective clinical trials utilizing uniform treatment approaches.
Published Version (Please cite this version)10.2147/PGPM.S38698
Publication InfoGururangan, Sridharan; & Schroeder, Kristin M (2014). Molecular variants and mutations in medulloblastoma. Pharmgenomics Pers Med, 7. pp. 43-51. 10.2147/PGPM.S38698. Retrieved from https://hdl.handle.net/10161/15103.
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Professor of Pediatrics
Dr. Gururangan is the Director of the Pediatric Neuro-Oncology program at the Preston Robert Tisch Brain Tumor Center. His current research interest focuses on finding novel chemotherapeutic strategies for the treatment of children and young adults with central nervous system tumors. Since beginning his tenure at the Brain Tumor Center at Duke, he has written seven clinical protocols. These protocols have incorporated some of the important laboratory findings obtained from the laboratory of Dr.
This author no longer has a Scholars@Duke profile, so the information shown here reflects their Duke status at the time this item was deposited.
Assistant Professor of Pediatrics
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