Haefliger Simon, Andrei Vanghelita, Baumhoer Daniel
Bone Tumour Reference Centre, Institute of Medical Genetics and Pathology, University Hospital Basel, University of Basel, Basel, Switzerland.
Front Oncol. 2022 Jul 7;12:954717. doi: 10.3389/fonc.2022.954717. eCollection 2022.
The craniofacial skeleton is a highly complex and specialized anatomic region containing and protecting the brain and sensory organs. Bone sarcomas arising here comprise a heterogeneous group of tumours, some of which differ in their biological behaviour compared to their peripheral counterparts. The reasons for this seem to lie, at least partially, in the embryonal development of the craniofacial bones. For reaching the correct diagnosis as the cornerstone of optimal personalised treatment planning, a multidisciplinary team of specialists, including pathologists, radiologists, oncologists, and head and neck surgeons needs to be involved. The most common tumours arising in the craniofacial bones are bone-forming tumours, cartilage-forming tumours, fibro-osseous lesions, giant cell-rich lesions, and notochordal tumours. While morphology remains the backbone for the diagnosis, the last decade has witnessed tremendous advances in the molecular characterization of tumours, and molecular testing is increasingly becoming a part of the diagnostic process. The integration of these new molecular markers into the diagnostic approach has undoubtedly increased the diagnostic accuracy and objectivity, and holds great promise to also identify new therapeutic targets for precision medicine in the future. Examples include in mesenchymal chondrosarcoma, mutations in chondrosarcoma and rearrangements in rhabdomyosarcoma. In this article, key clinical, histological and molecular features of malignant bone tumours arising in the craniofacial region are discussed, with a special focus on the differential diagnosis and prognostic considerations.
颅面骨骼是一个高度复杂且特殊的解剖区域，容纳并保护着大脑和感觉器官。发生于此的骨肉瘤是一组异质性肿瘤，其中一些与外周骨肉瘤相比，生物学行为有所不同。其原因似乎至少部分在于颅面骨的胚胎发育。为了做出正确诊断，作为优化个性化治疗方案的基石，需要一个多学科专家团队参与，包括病理学家、放射科医生、肿瘤学家以及头颈外科医生。颅面骨中最常见的肿瘤是骨形成性肿瘤、软骨形成性肿瘤、纤维骨病变、富含巨细胞的病变以及脊索瘤。虽然形态学仍是诊断的基础，但在过去十年中，肿瘤的分子特征研究取得了巨大进展，分子检测越来越成为诊断过程的一部分。将这些新的分子标志物整合到诊断方法中无疑提高了诊断的准确性和客观性，并且极有可能在未来为精准医学识别出新的治疗靶点。例如，间叶性软骨肉瘤中的 、软骨肉瘤中的 突变以及横纹肌肉瘤中的 重排。在本文中，将讨论颅面区域恶性骨肿瘤的关键临床、组织学和分子特征，特别关注鉴别诊断和预后因素。
