Molecular Profiling of Medulloblastoma
Medulloblastoma is the most common central nervous system cancer among children between the ages of 0 and 4 years (CBTRUS 2012). Medulloblastoma is the most common type of a set of brain cancers known as primitive or embryonal. Together with the other embryonal and primitive type brain tumors, annual incidence in the United States is approximately 430 in children aged 0-14 and 660 overall (CBTRUS 2012). Mortality data are not available, but the percentage of medulloblastoma and other primitive and embryonal tumor patients alive 10 years after diagnosis is over 55% (CBTRUS 2012).
Treatment of medulloblastoma involves surgical resection of the tumor, usually followed by radiation therapy. In children, radiation therapy is accompanied by risk of adverse effects, including effects on growth and neurocognitive development (NCI 2012). Chemotherapy and targeted therapeutics are being explored as ways to treat advanced, recurrent, or surgically non-resectable tumors, as well as to avoid the adverse effects of radiation therapy. At this time, Hedgehog pathway inhibitors are a primary focus of drug development.
The most commonly mutated genes in medulloblastoma are TP53 (100% of 8 samples tested), PTCH1 (16% of 125 samples tested), and CTNNB1 (6% of 366 samples tested; COSMIC). Due to a lack of data, the frequency of SMO mutations is not known.
Suggested Citation: Rudin, C. 2014. Molecular Profiling of Medulloblastoma. My Cancer Genome https://www.padiracinnovation.org/content/disease/medulloblastoma/ (Updated October 20).
Last Updated: October 20, 2014