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Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone

Baumhoer, D; Kovac, M; Sperveslage, J; Ameline, B; Strobl, A-C; Krause, A; Trautmann, M; ... Hartmann, W; + view all (2019) Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone. The Journal of Pathology 10.1002/path.5216. (In press).

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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.

Type: Article
Title: Activating mutations in the MAP-kinase pathway define non-ossifying fibroma of bone
Location: England
DOI: 10.1002/path.5216
Publisher version: https://doi.org/10.1002/path.5216
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: FGFR1, KRAS, NF1, Non-ossifying fibroma, bone tumour, massively parallel sequencing
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Medical Sciences > Cancer Institute > Research Department of Pathology
URI: https://discovery.ucl.ac.uk/id/eprint/10068097
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