Table 3.

Genomic alterations in fibro-osseous lesions

Disease	Genomic lesions
Adult osteitis deformans	Sequestosome 1 gene (SQSTM1), a scaffold protein in the NFkappaB pathway; Inactivating mutations in TNFRSF11B, which encodes osteoprotegerin (a decoy receptor for RANK ligand)
Childhood Paget disease (idiopathic hyper-Phosphatasemia	Insertion mutations in TNFRSF11A, a receptor activator of nuclear factor (NF)kappaB (RANK)-a critical regulator of osteoclast function
Hereditary inclusion body myopathy, Paget’s disease and fronto-temporal dementia	Mutation in Valosin-containing protein (VCP), targeting the inhibitor of NFkappaB for degradation by the proteasome
Familial expansile osteolysis/expansile skeletal Hyperphosphatasia	Tandem duplications in TNFRSF11A
Fibrous dysplasia, McCune Albright syndrome	Mutations of the Gsalpha gene (GNAS), the alpha-subunit of the stimulatory G protein
Hyperparathyroidism associated ossifying fibroma	Mutations in tumor suppressor gene HRPT2
Psammomatoid Ossifying Fibroma	Chromosomal breakpoints t(X;2)(q26;q33); interstitial insertion of bands 2q24.2q33 into Xq26