ArticleMolecular genetics & genomic medicine2022
Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 15 citations in OpenAlex.
- Malignant Transformation of Musculoskeletal Lesions with Imaging-Pathology Correlation-Part 1: Bone Lesions.Diagnostics (Basel, Switzerland) · 2025Review
- Skull Base Osteosarcoma: An Analysis of 9 Cases and Literature Review.Head and neck pathology · 2025Review
- Osteosarcoma Arising in Noonan Syndrome/RASopathy Complex: First Case Report.Head and neck pathology · 2025Article
- Malignant sarcomatous transformation of calvarial fibrous dysplasia: illustrative case.Journal of neurosurgery. Case lessons · 2024Article
- Undifferentiated sarcoma arising from fibrous dysplasia in a young adult.Orthopadie (Heidelberg, Germany) · 2024Article
- DNA Mutational and Copy Number Variation Profiling of Primary Craniofacial Osteosarcomas by Next-Generation Sequencing.Head and neck pathology · 2024Article
- Article
- Fibrous Dysplasia of the Jaw: Advances in Imaging and Treatment.Journal of clinical medicine · 2023Article
- Osteosarcoma Arising in Fibrous Dysplasia of the Long Bone: Characteristic Images and Molecular Profiles.Diagnostics (Basel, Switzerland) · 2022Article
- Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.Molecular genetics & genomic medicine · 2022Article
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Authors and funding
7 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundMalignant transformation of fibrous dysplasia (FD) is very rare and little is known about this occurrence.
methodsWe present the detailed clinical course of three cases of osteosarcoma arising from FD of the jaws and explore the genetic aberrations by Sanger sequencing, whole-exome sequencing (WES) and immunohistochemistry (IHC). A literature review of important topics related to this occurrence was also performed.
resultsIt was observed that patients with secondary sarcoma from FD showed a wide range of ages, with most during the third decade. Female and males were equally affected. Craniofacial bones and femurs were the most affected sites. High-risk factors for this occurrence included polyostotic FD, McCune-Albright syndrome and excess growth hormone. Notably, a potential relationship between thyroid hormones and sarcoma development was suggested in one patient, who began to show malignant features after hypothyroidism correction. Sanger sequencing revealed GNAS mutations of FD retained in all malignant tissues. Additionally, abnormal TP53 was demonstrated in all three cases by WES and IHC. WES also revealed two other driver mutations, ROS1 and CHD8, and large amounts of somatic copy number alterations (CNAs) where various oncogenes and tumour suppressors are located.
conclusionThis study demonstrated and reviewed the clinical features and risk factors for a rare occurrence, secondary sarcoma from FD, and provided important new knowledge about its genetics.
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