PDF(Pubmed)
Abstract：
Paget disease of bone is a metabolic disorder with a strong genetic component, characterised by pronounced disorganised bone remodelling. Complications of this disease include an increased risk of developing bone neoplasms. Here, we describe the case of a 60-year-old Italian patient with Paget disease of bone, presenting with an osteoclast-rich tumour. Our analysis of this entity, based on the clinical, morphological and genetic data (whole exome sequencing), suggests that osteoclast-rich lesions in Paget disease of bone are genetically distinct from classical giant cell tumour of bone. We discuss the importance of differentiating these osteoclast-rich lesions.
摘要：
骨Paget病是一种代谢紊乱，具有很强的遗传成分，以明显的骨骼重塑为特征。这种疾病的并发症包括发生骨肿瘤的风险增加。这里,我们描述了一个60岁的意大利佩吉特骨病患者的案例，表现为富含破骨细胞的肿瘤。我们对这个实体的分析，根据临床，形态学和遗传数据（全外显子组测序），提示Paget病中富含破骨细胞的病变在遗传上与经典的骨巨细胞瘤不同。我们讨论了区分这些富含破骨细胞的病变的重要性。
