Genetically engineered mouse models and human osteosarcomaReport as inadecuate

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Clinical Sarcoma Research

, 2:19

Epidemiology of sarcomas


Osteosarcoma is the most common form of bone cancer. Pivotal insight into the genes involved in human osteosarcoma has been provided by the study of rare familial cancer predisposition syndromes. Three kindreds stand out as predisposing to the development of osteosarcoma: Li-Fraumeni syndrome, familial retinoblastoma and RecQ helicase disorders, which include Rothmund-Thomson Syndrome in particular. These disorders have highlighted the important roles of P53 and RB respectively, in the development of osteosarcoma. The association of OS with RECQL4 mutations is apparent but the relevance of this to OS is uncertain as mutations in RECQL4 are not found in sporadic OS. Application of the knowledge or mutations of P53 and RB in familial and sporadic OS has enabled the development of tractable, highly penetrant murine models of OS. These models share many of the cardinal features associated with human osteosarcoma including, importantly, a high incidence of spontaneous metastasis. The recent development of these models has been a significant advance for efforts to improve our understanding of the genetics of human OS and, more critically, to provide a high-throughput genetically modifiable platform for preclinical evaluation of new therapeutics.

KeywordsOsteosarcoma p53 Rb Mouse models AbbreviationsBLMBloom

LFSLi-Fraumeni Syndrome

L-MTP-PELiposomal Muramyl-Tripeptide Phosphatidyl Ethanolamine



PD-STSPoorly differentiated soft tissue sarcoma


shRNAShort hairpin RNA

siRNASmall interfering RNA


SV40Simian Virus 40

RNAiRNA interference

TagT antigen

TercTelomerase RNA Component


Electronic supplementary materialThe online version of this article doi:10.1186-2045-3329-2-19 contains supplementary material, which is available to authorized users.

Alvin JM Ng, Anthony J Mutsaers contributed equally to this work.

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Author: Alvin JM Ng - Anthony J Mutsaers - Emma K Baker - Carl R Walkley


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