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- W2140262022 abstract "Neuroblastoma is known to exhibit wide ranges of clinical behavior, from spontaneous regression to highly resistant to chemotherapy. Previously, we have established the risk classification system based on the copy number profiles of the tumor determined by array CGH analysis. The two most major subclasses with aggressive phenotype are P1a (with partial chromosomal gains/losses, MYCN amplification, 1p loss and 17q gain, but no 11q loss) and P3s (with partial chromosomal gains/losses, 11q loss and 17q gain, but no 1p loss nor MYCN amplification), whose 8-year survival rates were 33% and 31%, respectively, in our database. On the other hand, Ss subgroup, categorized as few chromosomal gains/losses, showed favorable prognosis (8-year survival rate was 82%). To determine and compare the spectrum of genetic alterations in each tumor subtype, we have so far conducted whole-exome sequencing of 101 cases (P1a:17, P3s:44, Ss:20, others including metastasized or relapsed:20). On average, P1a and P3s subgroups had approximately 14 and 19 somatic alterations in coding genes, respectively, while Ss had very few alterations with only 1.2. Few recurrent non-silent mutations were found in all subgroups, however, pathway analysis by David with KEGG database indicated that a part of these novel somatic mutations were concentrated in cancer-related signaling pathways, such as those of MAPK (14 genes, adjusted p Citation Format: Miki Ohira, Yuanyuan Li, Yong Zhou, Xiangchun Li, Zhibo Gao, Kenji Tatsuno, Shuichi Tsutsumi, Shogo Yamamoto, Yohko Nakamura, Takehiko Kamijo, Hiroyuki Aburatani, Akira Nakagawara. Whole exome sequencing of 101 neuroblastomas with distinct genomic subgroups identified significantly mutated pathways in aggressive tumor subtypes. [abstract]. In: Proceedings of the AACR Special Conference on Pediatric Cancer at the Crossroads: Translating Discovery into Improved Outcomes; Nov 3-6, 2013; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2013;74(20 Suppl):Abstract nr B38." @default.
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- W2140262022 date "2014-10-09" @default.
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- W2140262022 title "Abstract B38: Whole exome sequencing of 101 neuroblastomas with distinct genomic subgroups identified significantly mutated pathways in aggressive tumor subtypes" @default.
- W2140262022 doi "https://doi.org/10.1158/1538-7445.pedcan-b38" @default.
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