Fibro-osseous tumors and dysplasias
2025-11-24 Paola Dal Cin, PhD Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
Keywords
GNAS mutations; MDM2 and RASL1 co-amplification;SATB2 rearrangementClassification
Definition
| Bone and cartilage tumors | Genetic markers |
|---|---|
| Fibro-osseous tumors and dysplasias | |
| Cemento-osseous dysplasia (COD) | They are the most common fibro-osseous lesion in the jaws ,developing exclusively in the tooth-bearing areas of the gnathic bones. Pathogenic hotspot mutations involving the RAS-MAPK signalling pathway were detected e.g., BRAF, HRAS, KRAS, NRAS, and FGFR3 mutations. 1 |
| Segmental odontomaxillary dysplasia (SOD) | A non-hereditary, unilateral developmental anomaly, typically manifests in early childhood, with a male predominance and associated with PIK3CA or ACTB mutations.2,3 |
| Fibrous dysplasia (FD) | GNAS mutations at codon 201 , most commonly p.(Arg201His) or p.(Arg201Cys), resulting in the constitutive activation of Wnt/b-catenin signaling pathway can be identified in FD cases and are not present in other fibro-osseous lesions.4 They can occurr sporadically or in association with McCune-Albright syndrome OMIM:174800, Jeffe-Lichenstein syndrome OMIM:246550 or Mazabraud syndrome,5 |
| Juvenile trabecular ossifying fibroma (JTOF) | To date JTOF represents a heterogeneous group of tumors at the genetic level: 1) Recurrent MDM2 and RASL1 amplification were reported ,6 but not reportes by others, 7 2) subset of cases shows CDC73 mutations and recurrent gene copy number gain/amplification of TBX3,FOS, FOSB and COL1A1,8 and a single JTOF case of with SATB2::EXOC6B fusion , probably from a pericentric inversion from between EXOC6B ad 2p13.1 and SATB2 at 2q 33.1, with concurrent deletion of exons in both genes. 9 |
| Psammomatoid ossifying fibroma (PsOF) | Psammomatoid ossifying fibroma (PsOF), also known as juvenile PsOF, is associated with SATB2 rearrangement at 2q33.1,10 with SATB2::AL513487 fusion,associated with t(X;2)(q26;q33) seen by karyotyping . 11 A single case with both PsOF and secondary ABC like changes exhibited a frameshift SETD2 somatic mutation at 3p21.31. 12 |
| Familial gigantiform cementoma | Familial gigantiform cementoma can be inherited in an autosomal dominant fashion and is also described in rare generalized skeleton syndromes like gnathodiaphyseal dysplasia (GDD) OMIM:166260, carrying ANO5 mutation. 13 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 36707318 | 2023 | Cemento-osseous dysplasia is caused by RAS-MAPK activation. | Haefliger S et al |
| 2 | 32500425 | 2021 | Segmental Ipsilateral Odontognathic Dysplasia (Mandibular Involvement in Segmental Odontomaxillary Dysplasia?) and Identification of PIK3CA Somatic Variant in Lesional Mandibular Gingival Tissue. | Gibson TM et al |
| 3 | 39776378 | 2025 | Segmental Odontomaxillary Dysplasia: Unusual Tumoral Lesion. | de Lima Castro FLA et al |
| 4 | 30376190 | 2019 | Fibrous dysplasia of the jaws: Integrating molecular pathogenesis with clinical, radiological, and histopathological features. | Pereira TDSF et al |
| 5 | 35974890 | 2022 | Mazabraud's Syndrome. | Adrien M et al |
| 6 | 24925056 | 2015 | Chromosome 12 long arm rearrangement covering MDM2 and RASAL1 is associated with aggressive craniofacial juvenile ossifying fibroma and extracranial psammomatoid fibro-osseous lesions. | Tabareau-Delalande F et al |
| 7 | 3554665 | 1987 | Immunogenicity of the non-MHC-encoded endothelial antigen Eag-1 in various tissues of the rat. | Blankert JJ et al |
| 8 | 36928741 | 2023 | Genomic Profiling of the Craniofacial Ossifying Fibroma by Next-Generation Sequencing. | Bahceci DH et al |
| 9 | 38890784 | 2024 | SATB2-rearrangement in a case of juvenile trabecular ossifying fibroma, expanding the spectrum of SATB2-rearranged neoplasia. | Perret R et al |
| 10 | 36788065 | 2023 | Psammomatoid Ossifying Fibroma Is Defined by SATB2 Rearrangement. | Cleven AHG et al |
| 11 | 8625058 | 1995 | Nonrandom chromosome breakpoints at Xq26 and 2q33 characterize cemento-ossifying fibromas of the orbit. | Sawyer JR et al |
| 12 | 34657606 | 2021 | First presentation of a frameshift mutation in the SETD2 gene of a juvenile psammomatoid ossifying fibroma (JPOF) associated with an aneurysmal bone cyst. | Toferer A et al |
| 13 | 27216912 | 2016 | Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies. | Andreeva TV et al |
Citation
Paola Dal Cin, PhD
Fibro-osseous tumors and dysplasias
Atlas Genet Cytogenet Oncol Haematol. 2025-11-24
Online version: http://atlasgeneticsoncology.org/solid-tumor/209347/fibro-osseous-tumors-and-dysplasias
