Nanostring technology on Fibrous Dysplasia bone biopsies. A pilot study suggesting different histology-related molecular profiles release_4v7uh3ozofawhbmi3atne43lai

by Agnese Persichetti, Edoardo Milanetti, Biagio Palmisano, Annamaria di Filippo, Emanuela Spica, Samantha Donsante, Ilenia Coletta, Michele Dello Spedali Venti, Ernesto Ippolito, Alessandro Corsi, Mara Riminucci, Domenico Raimondo

Published in Bone Reports by Elsevier BV.

2021   Volume 16, p101156


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

Archived Files and Locations

application/pdf  3.7 MB
file_skypohrm5vczzbexjpg2mjasd4 (web) (webarchive)
Read Archived PDF
Preserved and Accessible
Type  article-journal
Stage   published
Date   2021-12-09
Language   en ?
Container Metadata
Open Access Publication
In Keepers Registry
ISSN-L:  2352-1872
Work Entity
access all versions, variants, and formats of this works (eg, pre-prints)
Catalog Record
Revision: 7c594f73-4bc3-4b1e-8f76-484db2d88919