What's new in bone forming tumours of the skeleton?


  • 影响因子：2.52
  • DOI：10.1007/s00428-019-02683-w
  • 作者列表："Franceschini N","Lam SW","Cleton-Jansen AM","Bovée JVMG
  • 发表时间：2020-01-01

:Bone tumours are difficult to diagnose and treat, as they are rare and over 60 different subtypes are recognised. The emergence of next-generation sequencing has partly elucidated the molecular mechanisms behind these tumours, including the group of bone forming tumours (osteoma, osteoid osteoma, osteoblastoma and osteosarcoma). Increased knowledge on the molecular mechanism could help to identify novel diagnostic markers and/or treatment options. Osteoid osteoma and osteoblastoma are bone forming tumours without malignant potential that have overlapping morphology. They were recently shown to carry FOS and-to a lesser extent-FOSB rearrangements suggesting that these tumours are closely related. The presence of these rearrangements could help discriminate these entities from other lesions with woven bone deposition. Osteosarcoma is a malignant bone forming tumour for which different histological subtypes are recognised. High-grade osteosarcoma is the prototype of a complex karyotype tumour, and extensive research exploring its molecular background has identified phenomena like chromothripsis and kataegis and some recurrent alterations. Due to lack of specificity, this has not led to a valuable novel diagnostic marker so far. Nevertheless, these studies have also pointed towards potential targetable drivers of which the therapeutic merit remains to be further explored.


: 骨肿瘤很难诊断和治疗，因为它们很罕见，超过 60 种不同的亚型被识别。新一代测序的出现部分阐明了这些肿瘤背后的分子机制，包括骨形成肿瘤组 (骨瘤、骨样骨瘤、骨母细胞瘤和骨肉瘤)。增加对分子机制的了解有助于确定新的诊断标志物和/或治疗方案。骨样骨瘤和骨母细胞瘤是形态重叠的无恶性潜能的骨形成性肿瘤。它们最近被证明携带FOS和-在较小程度上-FOSB重排，表明这些肿瘤密切相关。这些重排的存在有助于区分这些实体与其他有编织骨沉积的病变。骨肉瘤是一种恶性骨形成肿瘤，不同的组织学亚型是公认的。高级别骨肉瘤是复杂核型肿瘤的原型，探索其分子背景的广泛研究已经确定了像色斑和kataegis等现象和一些复发性改变。由于缺乏特异性，迄今为止这还没有导致一个有价值的新型诊断标志物。尽管如此，这些研究也指出了潜在的可靶向驱动因素，其治疗价值仍有待进一步探讨。





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