Maloney Nolan, Linos Konstantinos
Department of Pathology and Laboratory Medicine, Dartmouth-Hitchcock Medical Center, Lebanon, NH, USA.
Clin Pathol. 2019 Jul 3;12:2632010X19861109. doi: 10.1177/2632010X19861109. eCollection 2019 Jan-Dec.
Fibrous dysplasia is a benign, mass-forming disease of bone composed of abnormal fibrous and osseous elements that can be accompanied by endocrine dysfunction, skin pigmentation, and intramuscular myxomas. It is usually encountered as a solitary lesion in the tibia or femur but can develop in any bone and can be unifocal or multifocal. Difficulty arises when a solitary lesion is identified in an uncommon site or when there are prominent secondary changes, such as aneurysmal bone cyst (ABC). Molecular studies are available as an adjunct to histomorphology to aid distinction from other entities. mutations, present in greater than 70% of fibrous dysplasia cases, help in the distinction from primary ABC and low-grade osteosarcoma, which exhibit different molecular abnormalities. We report a case of monostotic fibrous dysplasia in a lumbar vertebral body with secondary change consisting of the solid variant of ABC.
骨纤维异常增殖症是一种由异常纤维和骨成分组成的良性、形成肿块的骨疾病,可伴有内分泌功能障碍、皮肤色素沉着和肌内黏液瘤。它通常表现为胫骨或股骨的孤立性病变,但可发生于任何骨骼,可为单灶性或多灶性。当在不常见部位发现孤立性病变或存在明显的继发性改变(如动脉瘤样骨囊肿[ABC])时,诊断会出现困难。分子研究可作为组织形态学的辅助手段,以帮助与其他实体病变相鉴别。超过70%的骨纤维异常增殖症病例存在的突变,有助于与原发性ABC和低级别骨肉瘤相区分,后两者表现出不同的分子异常。我们报告一例腰椎椎体单发性骨纤维异常增殖症,伴有由ABC实性变体组成的继发性改变。