Work

Geno-35ngs-based Msk-impact Analysis Reveals Specific Genetic Alterations in Recurrent Glioblastoma

Year: 2015
Type: article
Study design: Case Report
Abstract: Tumor recurrence is a leading cause of cancer death, due to accumulated genomic alterations driving therapeutic resistance. Glioblastoma multiforme (GBM) is the most aggressive brain tumor with a high relapse rate. Identification of oncogenic driver mutations and development of effective targeted therapies are desired. To enable prediction of actionable somatic mutations in patients with finally GBM, we utilized Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT), a hybridization capture-based NGS targeted 341 key cancer genes in FFPE tumors, which is the first test in Japan. Paired analysis of primary and matched recurrence tumors in five glioma cases treated with radiotherapy and chemotherapy (cases with transition from grade II to IV, III to IV, and IV to IV) were subjected, and reproducibility of the detectable mutations was assessed using matched primary culture cells. Many somatic mutations and copy number alterations were reliably detected in primary and recurrent tumors concomitantly or exclusively. Here, we would like to discuss the significance of MSK-IMPACT analysis to guide decision of optimal molecular targeted therapy.
Language: English
Subfield: Genetics
Field: Medicine
Open Access status: bronze
OpenAlex ID: W2341001172
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