Nanostring technology on Fibrous Dysplasia bone biopsies. A pilot study suggesting different histology-related molecular profiles

• DOI: 10.1016/j.bonr.2021.101156
• Publication Date: 2021-12-09T17:48:46Z
• Authors: Agnese Persichetti; Edoardo Milanetti; Biagio Palmisano; Annamaria di Filippo; Emanuela Spica; Samantha Donsante; Ilenia Coletta; Michele Dello Spe...; Ernesto Ippolito; Alessandro Corsi; Mara Riminucci; Domenico Raimondo
• Keywords: Histology; Pathogenesis

Identifying the molecular networks that underlie Fibrous Dysplasia (FD) is key to understand pathogenesis of disease, refine current diagnostic approaches and develop efficacious therapies. In this study, we used NanoString nCounter Analysis System investigate gene signature a series nine Formalin Fixed Decalcified Paraffin-Embedded (FFDPE) bone biopsies from seven FD patients. We analyzed expression level 770 genes. Unsupervised clustering analysis demonstrated partitioning into two clusters with distinct patterns expression. Differentially expressed genes included growth factors, components Wnt signaling system, interleukins some their cognate receptors, ephrin ligands, matrix metalloproteinases, neurotrophins encoding cAMP-dependent protein kinase. Interestingly, tissue samples obtained same skeletal site one patient year apart failed segregate in cluster. Retrospective histological review revealed different microscopic aspects groups. The results our pilot study suggest genetic heterogeneous varies according histology and, likely, age lesion. addition, they show Nanostring technology valuable tool for translational studies on archival FFDPE material other rare diseases.