Osteogenic tumors
2022-04-07 Paola Dal Cin, PhD , Judith VMG Bovée Affiliation1.Brigham and Women's Hospital , Harvard Medical School, Boston , MA (USA)
2.Leiden University Medical Center, Leiden, The Netherlands
Classification
Definition
Bone-forming (osteogenic) neoplasms are characterized by the formation of osteoid or mature bone directly by the tumor cells. Osteosarcoma is the most common malignant mesenchymal bone tumor, most prevalent in teenagers and young adults. Histological variants may pose diagnostic dilemmas and can be missed or confused with other lesions. 1
| Osteogenic tumors | Genetic marker(s) |
|---|---|
| Osteoma | No specific genetic findings so far |
| Osteoid osteoma | FOS (14q24.3) and , rarely, FOSB (19q13.3) rearrangements. 1-3 |
| Osteoblastoma (OB) | FOS fused with ANKH, CEMIP, MYO1B, IGR and RUNX2; and FOSB rearranged with PPP1R10. 1,3,4 Recurrent 22q deletion activating Wnt/Beta-Catenin signaling pathway 5. Single case with t(1;2;14)(q42;q13;q24).6 |
| Low grade central osteosarcoma (LGCO) | Amplification of 12q13-q15 region, including MDM2 and CDK4.7,8 |
| Osteosarcoma | Complex karyotype with many amplifications, deletions and random translocations, with very few recurrent alterations. Chromosomal instability either by chromothripsis, 9 or by kataegis mechanisms. 10,11 The most common being alterations in genes involved in maintaining genomic stability, as TP53 , RB1 , ATRX and homologous recombination, DNA repair pathway or hormonal signalling (IGF and ER signalling). 3,12-14 Certain hereditary syndromes predispose to osteosarcoma. 3,15 |
| Parosteal osteosarcoma | One or more supernumerary ring chromosome, mainly, as the sole chromosome aberration, containing amplification of 12q13-q15 region, 16,17 including MDM2 and CDK4.7,18 |
| Periosteal osteosarcoma | Complex chromosomal alterations and TP53 point mutations , similar to high-grade osteosarcomas 14,19 |
| High -grade surface osteosarcoma | No specific genetic findings so far |
| Secondary osteosarcoma | Radiation-associated osteosarcoma show different signature than sporadic osteosarcomma, with losses more frequent than gains chromosome regions.20 |
Article Bibliography
| Reference Number | Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|---|
| 1 | 29858576 | 2018 | Recurrent rearrangements of FOS and FOSB define osteoblastoma. | Fittall MW et al |
| 2 | 30582658 | 2019 | An update of molecular pathology of bone tumors. Lessons learned from investigating samples by next generation sequencing. | Baumhoer D et al |
| 3 | 31741049 | 2020 | What's new in bone forming tumours of the skeleton? | Franceschini N et al |
| 4 | 32108038 | 2020 | FOS-ANKH and FOS-RUNX2 Fusion Genes in Osteoblastoma. | Panagopoulos I et al |
| 5 | 24236197 | 2013 | Recurrent chromosome 22 deletions in osteoblastoma affect inhibitors of the Wnt/beta-catenin signaling pathway. | Nord KH et al |
| 6 | 19963118 | 2009 | Osteoblastoma characterized by a three-way translocation: report of a case and review of the literature. | Giannico G et al |
| 7 | 21336260 | 2011 | MDM2 and CDK4 immunohistochemistry is a valuable tool in the differential diagnosis of low-grade osteosarcomas and other primary fibro-osseous lesions of the bone. | Dujardin F et al |
| 8 | 30001240 | 2018 | Consistent Amplification of FRS2 and MDM2 in Low-grade Osteosarcoma: A Genetic Study of 22 Cases With Clinicopathologic Analysis. | He X et al |
| 9 | 32767232 | 2020 | Genomics and the Immune Landscape of Osteosarcoma. | Wu CC et al |
| 10 | 25319867 | 2014 | Translational biology of osteosarcoma. | Kansara M et al |
| 11 | 32767231 | 2020 | Genomic Complexity of Osteosarcoma and Its Implication for Preclinical and Clinical Targeted Therapies. | Schott C et al |
| 12 | 26632267 | 2015 | Exome sequencing of osteosarcoma reveals mutation signatures reminiscent of BRCA deficiency. | Kovac M et al |
| 13 | 27760307 | 2017 | Molecular genetics of osteosarcoma. | Rickel K et al |
| 14 | 28643781 | 2017 | Recurrent mutation of IGF signalling genes and distinct patterns of genomic rearrangement in osteosarcoma. | Behjati S et al |
| 15 | 29668499 | 2018 | Tumor Syndromes Predisposing to Osteosarcoma. | Hameed M et al |
| 16 | 10393837 | 1999 | Hibernomas are characterized by homozygous deletions in the multiple endocrine neoplasia type I region. Metaphase fluorescence in situ hybridization reveals complex rearrangements not detected by conventional cytogenetics. | Gisselsson D et al |
| 17 | 16730325 | 2006 | Elucidating the mechanisms of coupled electron transfer and catalytic reactions by protein film voltammetry. | Hirst J et al |
| 18 | 20196171 | 2010 | Characterization of the 12q15 MDM2 and 12q13-14 CDK4 amplicons and clinical correlations in osteosarcoma. | Mejia-Guerrero S et al |
| 19 | 12402305 | 2002 | Genetic imbalances revealed by comparative genomic hybridization in osteosarcomas. | Ozaki T et al |
| 20 | 27615322 | 2016 | Mutational signatures of ionizing radiation in second malignancies. | Behjati S et al |
Citation
Paola Dal Cin, PhD ; Judith VMG Bovée
Osteogenic tumors
Atlas Genet Cytogenet Oncol Haematol. 2022-04-07
Online version: http://atlasgeneticsoncology.org/solid-tumor/208967/osteogenic-tumors
