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Background  The identification of fusion genes such as  SYT-SSX1/SSX2, PAX3-FOXO1, TPM3/TPM4-ALK  and  EWS-FLI1  in human sarcomas has provided important insight into the diagnosis and targeted therapy of sarcomas. No recurrent fusion has been reported in human osteosarcoma.    Methods  Transcriptome sequencing was used to characterize the gene fusions and mutations in 11 human osteosarcomas.    Results  Nine of 11 samples were found to harbor genetic inactivating alterations in the  TP53  pathway. Two recurrent fusion genes associated with the 12q locus,  LRP1-SNRNP25  and  KCNMB4-CCND3,  were identified and validated by RT-PCR, Sanger sequencing and fluorescence  in situ  hybridization, and were found to be osteosarcoma specific in a validation cohort of 240 other sarcomas. Expression of  LRP1-SNRNP25  fusion gene promoted SAOS-2 osteosarcoma cell migration and invasion. Expression of  KCNMB4-CCND3  fusion gene promoted SAOS-2 cell migration.    Conclusions  Our study represents the first whole transcriptome analysis of untreated human osteosarcoma. Our discovery of two osteosarcoma specific fusion genes associated with osteosarcoma cellular motility highlights the heterogeneity of osteosarcoma and provides opportunities for new treatment modalities.    Electronic supplementary material  The online version of this article (doi:10.1186/s13045-014-0076-2) contains supplementary material, which is available to authorized users.

Recurrent LRP1-SNRNP25 and KCNMB4-CCND3 fusion genes promote tumor cell motility in human osteosarcoma