Project Update - June 2014

As part of this project, the researchers also investigated the molecular characteristics and clinical significance of the other major amplification event on chromosome 13 – involving either the PAX3-FOXO1 or PAX7-FOXO1 fusion gene.

The published references for these two studies are:

Reichek JL, Duan F, Smith LM, Gustafson DM, O’ Connor RS, Zhang C, Dunlevy MJ, Gastier-Foster JM, Barr FG: Genomic and clinical analysis of amplification of the 13q31 chromosomal region in alveolar rhabdomyosarcoma: a report from the Children’s Oncology Group, Clin Cancer Res 17:1463-1473, 2011.

Duan F, Smith LM, Gustafson DM, Zhang C, Dunlevy MJ, Gastier-Foster JM, Barr FG: Genomic and clinical analysis of fusion gene amplification in alveolar rhabdomyosarcoma: a report from the Children’s Oncology Group, Genes Chrom Cancer, 51:662-74, 2012.

These molecular findings have been recently confirmed in a large next generation sequencing study conducted by the Children's Oncology Group:

Shern JF, Chen L, Chmielecki J, Wei JS, Patidar R, Rosenberg M, Ambrogio L, Auclair D, Wang J, Song YK, Tolman C, Hurd L, Liao H, Zhang S, Bogen D, Brohl A, Sindiri S, Catchpoole D, Badgett T, Getz G, Mora J, Anderson J, Skapek SX, Barr FG, Meyerson M, Hawkins DS, Khan J: Comprehensive genomic analysis of rhabdomyosarcoma reveals a landscape of alterations affecting a common genetic axis in fusion-positive and fusion-negative tumors. Cancer Discov, 4:216-31, 2014.