Bone Abstracts

Introduction: Paget’s disease of bone (PDB) has an autosomal-dominant mode of inheritance in one-third of cases. The germinal SQSTM1/P392L mutation is the most frequent mutation, present in 40% of patients with a familial form of PDB, and 8% of unrelated patients. Fibrous dysplasia (FD) is a rare bone disorder, mono or polyostotic, caused by post-zygotic mutations in GNAS gene, for which a PCR-clamping method was developed to ease their detection and avo...

Aims: Using an extensive bioinformatic approach we identified integrin α5 subunit as a novel potential target to treat bone dissemination from breast cancer. Aim of this study is to confirm the value of this target.Methods: Integrin α5 mRNA expression levels were quantified by qRT-PCR, using radically resected primary tumors of 427 breast cancer patients. α5 expression at protein level by IHC on primary tumor was correlated, in an addition...

Breast cancer cells that escape primary tumors disseminate to bone with high affinity at late-stage disease. Circulating breast tumor cells that invade the bone marrow (BM) express sets of deregulated genes and/or microRNAs (miRNAs) that facilitate their bone tropism and enhance engraftment of disseminated tumor cell (DTC) in BM which may subsequently induce osteolytic lesions. MiRNA transcriptomic profiling of the human breast cancer DTC cell line, BC-M1, and of the osteotrop...