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- Document type:
- Journal Article
- Author(s):
- Baumhoer, Daniel; Kovac, Michal; Sperveslage, Jan; Ameline, Baptiste; Strobl, Anna-Christina; Krause, Arthur; Trautmann, Marcel; Wardelmann, Eva; Nathrath, Michaela; Höller, Sylvia; Hardes, Jendrik; Gosheger, Georg; Krieg, Andreas H; Vieth, Volker; Tirabosco, Roberto; Amary, Fernanda; Flanagan, Adrienne M; Hartmann, Wolfgang
- Title:
- Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone.
- Abstract:
- Non-ossifying fibroma (NOF), which occasionally results in pathologic fracture, is considered the most common benign and self-limiting lesion of the growing skeleton. By DNA sequencing we have identified hotspot KRAS, FGFR1 and NF1 mutations in 48 of 59 patients (81.4%) with NOF, at allele frequencies ranging from 0.04 to 0.61. Our findings define NOF as a genetically driven neoplasm caused in most cases by activated MAP-kinase signalling. Interestingly, this driving force either diminishes over time or at least is not sufficient to prevent autonomous regression and resolution. Beyond its contribution to a better understanding of the molecular pathogenesis of NOF, this study adds another benign lesion to the spectrum of KRAS- and MAP-kinase signalling-driven tumours. Copyright © 2018 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
- Journal title abbreviation:
- J Pathol
- Year:
- 2019
- Journal volume:
- 248
- Journal issue:
- 1
- Pages contribution:
- 116-122
- Fulltext / DOI:
- doi:10.1002/path.5216
- Pubmed ID:
- http://view.ncbi.nlm.nih.gov/pubmed/30549028
- Print-ISSN:
- 0022-3417
- TUM Institution:
- Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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