Genomics | Medical Genetics | Sarcomas | Methods for Diagnostic & Therapeutic Studies
Genome-wide association analysis of formalin fixed paraffin embedded pulmonary metastatic tumor samples of osteosarcoma patients
Zelha Nil*, Yesim Aydin-Son, Mukerrem Safali, Fikret Arpaci, Ufuk Gunduz
*Corresponding author: Zelha Nil
Department of Biological Sciences, Middle East Technical University, Ankara, Turkey
F1000Posters 2012, 3: 291 (poster) [English]
Poster [641.66 KB]
Presented at
7th International Symposium on Health Informatics and Bioinformatics 2012,
19 - 22 Apr 2012, 49
Osteosarcoma (OS) is the primary malignant tumor of bone, with an incidence rate of 19% among all cancer types. The vast majority of patients have pulmonary metastases at diagnosis, and about half develop lung disease later, which leads to poor prognosis and increased death rate. It is therefore essential to investigate molecular markers responsible for pulmonary metastasis of osteosarcoma.
In this research, a genome wide association study (GWAS) using formalin fixed paraffin embedded (FFPE) samples from lung tissue of 9 patients with pulmonary metastatic OS was performed.
Among 358 associated SNPs, rs6499861, rs10884554 and rs12154602 were found to be associated with metastatic OS most significantly. Moreover, second wave analysis of GWAS results provided the significant genes and pathways associated with metastatic OS, including genes related to metabolic and skeletal development pathways. The present study also demonstrates a feasible approach in using archival FFPE samples for GWAS.
The results obtained in this study could help researchers to build new hypothesis and conduct studies on metastatic OS. Identification of the associated SNPs might be promising in investigation of potential diagnostic and prognostic markers in metastatic OS.
No relevant competing interests disclosed.
Gulhane Military Medical Academy, AR2010/10
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