Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C1522083 (Osteosarcoma)
 2,200 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Osteosarcoma (OS) is a bone malignancy affecting children and adolescents. Retinoblastoma (RB) patients with germline RB1 mutations are susceptible to osteosarcoma in the second decade of their life. Several studies, particularly in mice, have revealed a role for RB1 in osteogenesis. Since, there is species specific difference attributed in retinoblastoma tumorigenesis between mice and human, we assumed, it is worthwhile exploring the role of RB1 in osteogenesis and thus onset of osteosarcoma. In this study, we analyzed the temporal gene expression of the osteogenic markers, tumor suppressor genes and hormone receptors associated with growth spurt during in vitro osteogenesis of mesenchymal stem cells derived from orbital adipose tissue of germline RB patients and compared it with those with wild type RB1 gene. Mesenchymal stem cells with the heterozygous RB1 mutation showed reduced expression of RB1 and other tumor suppressor genes and showed deregulation of osteogenic markers which could be an initial step for the onset of osteosarcoma.
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PMID:Heterozygous retinoblastoma gene mutation compromises in vitro osteogenesis of adipose mesenchymal stem cells - a temporal gene expression study. 3289 Apr 59

Osteosarcoma is the most common type of bone cancer. Osteosarcoma is commonly associated with TP53 inactivation (around 95% of cases) and RB1 inactivation (around 28% of cases). With the discovery of reprogramming factors to induce pluripotency even in terminally differentiated cells, induced pluripotent stem cells (iPSCs) have emerged as a promising disease model. iPSC-based disease modeling uniquely recapitulates disease phenotypes and can support discoveries into disease etiology and is used extensively today to study a variety of diseases, including cancers. This paper focuses on iPSC-based modeling of Li-Fraumeni syndrome (LFS), an autosomal dominant disorder commonly associated with TP53 mutation and high osteosarcoma incidence. As iPSCs are increasingly utilized as a platform for cancer modeling, the experimental approaches that we discuss here may serve as a guide for future studies.
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PMID:Modeling of osteosarcoma with induced pluripotent stem cells. 3302 33


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