ArticleModern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc2015
GNAS mutations are not detected in parosteal and low-grade central osteosarcomas.
Article in Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 60 citations in OpenAlex.
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- Osteosarcoma Arising in Fibrous Dysplasia of the Long Bone: Characteristic Images and Molecular Profiles.Diagnostics (Basel, Switzerland) · 2022Article
- Update of Key Clinical, Histological and Molecular Features of Malignant Bone Tumours Arising in the Craniofacial Skeleton.Frontiers in oncology · 2022Review
- Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.Molecular genetics & genomic medicine · 2022Article
- Modeling plasticity and dysplasia of pancreatic ductal organoids derived from human pluripotent stem cells.Cell stem cell · 2021Article
- Systematic target actionability reviews of preclinical proof-of-concept papers to match targeted drugs to paediatric cancers.European journal of cancer (Oxford, England : 1990) · 2020Review
- [Molecular pathology in the diagnosis of bone tumors: current concepts].Der Pathologe · 2020Review
- [Osteoid-forming bone tumors : Morphology and current translational cell biology].Der Pathologe · 2020Review
- What's new in bone forming tumours of the skeleton?Virchows Archiv : an international journal of pathology · 2020Review
- Expression of miR‑542‑3p in osteosarcoma with miRNA microarray data, and its potential signaling pathways.Molecular medicine reports · 2019Article
- Low-Grade Surface Osteosarcoma of the Temporal Bone in Paediatric Patients: A Case Report and Literature Review.Clinical medicine insights. Pediatrics · 2019Article
- Fibrous dysplasia: an unusual case of a very aggressive form with costo-vertebral joint destruction and invasion of the contralateral D7 vertebral body.Skeletal radiology · 2018Article
- The curious case of Gαs gain-of-function in neoplasia.BMC cancer · 2018Article
- [Pathogenesis and genetics of osteosarcoma : Current concepts and developments].Der Pathologe · 2018Review
- [The activating GNAS mutation : A survey of fibrous dysplasia, its associated syndromes, and other skeletal and extraskeletal lesions].Der Pathologe · 2018Review
Corrections and comments
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Authors and funding
13 authors at 5 institutions in 3 countries.
Funding
Abstract
Parosteal osteosarcoma, low-grade central osteosarcoma, and fibrous dysplasia share similar histological features that may pose a diagnostic challenge. The detection of GNAS mutations in primary bone tumors has been useful in clinical practice for diagnosing fibrous dysplasia. However, the recent report of GNAS mutations being detected in a significant proportion of parosteal osteosarcoma challenges the specificity of this mutation. As the number of cases reported in this study was small we set out to determine if these results could be reproduced. We studied 97 formalin-fixed paraffin-embedded low-grade osteosarcomas from 90 patients including 62 parosteal osteosarcomas, of which MDM2 amplification was detected in 79%, 11 periosteal osteosarcomas and 24 low-grade central osteosarcoma samples. The mutational status of GNAS was analyzed in codons p.R201, p.Q227, and other less common GNAS alterations by bidirectional Sanger sequencing and/or next generation sequencing using the Life Technologies Ion Torrent platform. GNAS mutations were not detected in any of the low-grade osteosarcomas from which informative DNA was extracted. Our findings therefore support prior observations that GNAS mutations are highly specific for fibrous dysplasia and occur rarely, if ever, in parosteal and other low-grade osteosarcomas.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.