Bone Tumour Reference Centre, Institute of Pathology, University Hospital Basel and University of Basel, Basel, Switzerland.
Gerhard-Domagk-Institute of Pathology, University Hospital Münster, Münster, Germany.
J Pathol. 2019 May;248(1):116-122. doi: 10.1002/path.5216. Epub 2019 Jan 24.
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.
非骨化性纤维瘤（NOF）偶尔会导致病理性骨折，被认为是生长骨骼中最常见的良性和自限性病变。通过 DNA 测序，我们在 59 例非骨化性纤维瘤患者（81.4%）中发现了 48 例存在热点 KRAS、FGFR1 和 NF1 突变，等位基因频率范围为 0.04 至 0.61。我们的研究结果将非骨化性纤维瘤定义为一种由遗传驱动的肿瘤，在大多数情况下是由激活的 MAP 激酶信号通路引起的。有趣的是，这种驱动力要么随着时间的推移而减弱，要么至少不足以阻止自主消退和解决。除了有助于更好地理解非骨化性纤维瘤的分子发病机制外，这项研究还将另一种良性病变添加到了由 KRAS 和 MAP 激酶信号通路驱动的肿瘤谱中。版权所有 © 2018 英国和爱尔兰病理学会。由 John Wiley & Sons，Ltd. 出版
