A Children's Oncology Group and TARGET Initiative Exploring the Genetic Landscape of Wilms Tumor

Genome-wide sequencing, mRNA and miRNA expression, DNA copy number and methylation analyses were performed on 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors. In addition to genes previously implicated in Wilms tumors (WT1, CTNNB1, FAM123B, DROSHA, DGCR8, XPO5, DICER1, SIX1, SI...

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Detalles Bibliográficos
Autores principales: Gadd, Samantha, Huff, Vicki, Walz, Amy L., Ooms, Ariadne H.A.G., Armstrong, Amy E., Gerhard, Daniela S., Smith, Malcolm A., Guidry Auvil, Jaime M., Meerzaman, Daoud, Chen, Qing-Rong, Hsu, Chih Hao, Yan, Chunhua, Nguyen, Cu, Hu, Ying, Hermida, Leandro C., Davidsen, Tanja, Gesuwan, Patee, Ma, Yussanne, Zong, Zusheng, Mungall, Andrew J., Moore, Richard A., Marra, Marco A., Dome, Jeffrey S., Mullighan, Charles G., Ma, Jing, Wheeler, David A., Hampton, Oliver A., Ross, Nicole, Gastier-Foster, Julie M., Arold, Stefan T., Perlman, Elizabeth J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5712232/
https://www.ncbi.nlm.nih.gov/pubmed/28825729
http://dx.doi.org/10.1038/ng.3940
Descripción
Sumario:Genome-wide sequencing, mRNA and miRNA expression, DNA copy number and methylation analyses were performed on 117 Wilms tumors, followed by targeted sequencing of 651 Wilms tumors. In addition to genes previously implicated in Wilms tumors (WT1, CTNNB1, FAM123B, DROSHA, DGCR8, XPO5, DICER1, SIX1, SIX2, MLLT1, MYCN, and TP53), mutations were identified in genes not previously recognized as recurrently involved in Wilms tumors, the most frequent being BCOR, BCORL1, NONO, MAX, COL6A3, ASXL1, MAP3K4, and ARID1A. DNA copy number changes resulted in recurrent 1q gain, MYCN amplification, LIN28B gain, and let-7a loss. Unexpected germline variants involved PALB2 and CHEK2. Integrated analyses support two major classes of genetic changes that preserve the progenitor state and/or interrupt normal development.

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