Department of Pathology, Rizzoli Orthopaedic Institute, Bologna, Italy.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Department of Clinical Sciences and Community Health, University of Milan, Endocrinology and Diabetology Unit, Milan, Italy.
Histopathology. 2017 Jul;71(1):134-142. doi: 10.1111/his.13201. Epub 2017 Apr 18.
Fibrocartilaginous mesenchymoma is a rare intraosseous lesion, with a total of 26 cases described in the literature. This study describes the clinical, radiological and histological features of eight new cases of fibrocartilaginous mesenchymoma collected at a single institution between 1982 and 2016. The presence of GNAS and IDH1/2 mutations and MDM2 amplification was explored to evaluate possible links between fibrocartilaginous mesenchymoma, fibrous dysplasia, de-differentiated chondrosarcoma and low-grade osteosarcoma.
Eight new cases of fibrocartilaginous mesenchymoma of bone identified in our archives, dating from 1982 to 2016, were reviewed. The diagnosis was not performed on the initial biopsy in any of these cases, due mainly to the absence of obvious cartilaginous differentiation. On imaging, the tumour contained cartilaginous calcifications and showed a very strong uptake of contrast medium after injection. Histologically, the tumour was characterized by spindle cell proliferation mimicking a low-grade spindle cell sarcoma, associated with epiphyseal growth-plate-like nodules of cartilage and bone production. Molecularly, no GNAS and IDH1/2 mutations or MDM2 amplification were found in the cases analysed. Only one case recurred 1 year following intralesional resection. None died of disease.
This very rare bone tumour has a typical radiological and histological pattern and a favourable survival outcome after treatment. Local recurrences can be prevented with complete surgery. Fibrocartilaginous mesenchymoma does not seem to be related genetically to fibrous dysplasia, low-grade osteosarcoma and de-differentiated chondrosarcoma.
纤维软骨性间叶瘤是一种罕见的骨内病变，文献中总共描述了 26 例。本研究描述了在单一机构 1982 年至 2016 年间收集的 8 例新纤维软骨性间叶瘤的临床、放射学和组织学特征。探索 GNAS 和 IDH1/2 突变以及 MDM2 扩增的存在，以评估纤维软骨性间叶瘤、纤维结构不良、去分化软骨肉瘤和低度骨肉瘤之间的可能联系。
我们在档案中回顾了 1982 年至 2016 年间诊断的 8 例新的骨纤维软骨性间叶瘤病例。在这些病例中，最初的活检并未进行该诊断，主要是因为缺乏明显的软骨分化。在影像学上，肿瘤含有软骨钙化，并在注射后显示出非常强烈的对比剂摄取。组织学上，肿瘤的特征是梭形细胞增殖，类似于低度梭形细胞肉瘤，伴有骺板样软骨结节和骨生成。分子上，在分析的病例中未发现 GNAS 和 IDH1/2 突变或 MDM2 扩增。只有 1 例在病灶内切除后 1 年复发。没有患者死于疾病。
这种非常罕见的骨肿瘤具有典型的放射学和组织学模式，治疗后具有良好的生存结果。完全手术可以预防局部复发。纤维软骨性间叶瘤在遗传学上似乎与纤维结构不良、低度骨肉瘤和去分化软骨肉瘤无关。
