Nanostring Expression profile of Fibrous Dysplasia/McCune-Albright Syndrome bone biopsies varies according to their histological appearance

Identifying the molecular networks that underlie FD lesions and histological variants thereof is key to understand the pathogenesis of the disease, to refine current diagnostic approaches and to develop efficacious therapies. In this study, we used the NanoString nCounter Analysis System to investigate the gene signature of a series of archival FFDPE FD lesions and to establish a correlation between the molecular and histopathological profiles of the tissue specimens. We analyzed the gene expression profile of a series of human FFDPE bone biopsies from 1 to 9 years by employing Nanostring technology. The analysis of the differentially regulated genes led to segregation of samples into two groups, which were well characterized by different histological appearance. The expression level from 770 genes were determined by NanoString technology on a small series of formalin-fixed, decalcified and paraffin-embedded (FFDPE) FD biopsies. Moreover a detailed histological review was performed in order to associate samples with pathological sub-groups.