Document Detail

Analysis of giant cell tumour of bone cells for Noonan syndrome/cherubism-related mutations.
MedLine Citation:
PMID:  22725657     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Giant cell tumour of bone (GCTB) is an osteolytic tumour which contains numerous osteoclast-like giant cells and a proliferation of mononuclear stromal cells (MSC). Giant cell-rich osteolytic lesions can also develop in the jaw bones in Noonan syndrome, a cherubism-like developmental abnormality that is transmitted in an autosomal dominant fashion, often because of mutation in the PTPN11 or BRAF genes.
METHODS: We screened GCTBs for mutations in PTPN11 and BRAF to determine whether GCTBs develop through alterations of genes involved in Noonan syndrome. MSC were isolated from 10 GCTBs.
RESULTS: Chromosome banding analysis of these cells revealed telomeric associations (tas) in 7 of the 10 cases. Thus, the cultured cells expressed a cytogenetic abnormality typically found in short-term cultures from GCTBs. Sequencing of DNA extracted from the seven GCTB-derived MSC cultures displaying tas did not identify any mutation in PTPN11 or in exons 9-15 of BRAF.
CONCLUSION: Our findings indicate that the molecular pathways involved in GCTB development are different from those causing Noonan syndrome. The method for isolating and culturing GCTB stromal cells described in this study generated a population of MSC that contained tas, indicating that it is useful for obtaining stromal cells from GCTB and other giant cell-rich lesions, such as giant cell reparative granuloma, for genetic and other studies.
Linda Moskovszky; Bernadine Idowu; Richard Taylor; Fredrik Mertens; Nicholas Athanasou; Adrienne Flanagan
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Publication Detail:
Type:  Journal Article     Date:  2012-06-22
Journal Detail:
Title:  Journal of oral pathology & medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology     Volume:  42     ISSN:  1600-0714     ISO Abbreviation:  J. Oral Pathol. Med.     Publication Date:  2013 Jan 
Date Detail:
Created Date:  2013-01-04     Completed Date:  2013-06-10     Revised Date:  2014-07-31    
Medline Journal Info:
Nlm Unique ID:  8911934     Medline TA:  J Oral Pathol Med     Country:  Denmark    
Other Details:
Languages:  eng     Pagination:  95-8     Citation Subset:  D; IM    
Copyright Information:
© 2012 John Wiley & Sons A/S.
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MeSH Terms
Cell Culture Techniques
Cells, Cultured
Cherubism / genetics*
Chromosome Banding
Giant Cell Tumor of Bone / genetics*
Giant Cells / pathology
Leukocytes, Mononuclear / pathology
Noonan Syndrome / genetics*
Protein Tyrosine Phosphatase, Non-Receptor Type 11 / genetics*
Proto-Oncogene Proteins B-raf / genetics*
Stromal Cells / pathology
Telomere / pathology*
Reg. No./Substance:
EC protein, human; EC Proteins B-raf; EC protein, human; EC Tyrosine Phosphatase, Non-Receptor Type 11

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