OBJECTIVE To analyze the results of annual screening using whole-body magnetic resonance imaging (WBMRI) in patients with multiple hereditary exostoses (MHE) and enchondromatosis (EC), and estimate the risk for transformation to chondrosarcoma (CS) in these disorders. MATERIALS AND METHODS A total of 62 patients (57 with MHE and five with EC) screened during a mean follow-up period of 4.6 years (range, 1-10 years) using 253 WBMRIs (median four WBMRIs per patient, range, 1-10) were analyzed retrospectively. The time of WBMRIs was compared with dates for diagnosed CSs. A supplementary literature review was performed focusing on the risk of malignant transformation. RESULTS Ten patients had CS before being enrolled in the screening program, nine with MHE and one with EC. Three asymptomatic CSs were detected by screening; one in a patient with EC and two in patients with MHE, one of whom had CS previously. During the screening period, there was no occurrence of CS not detected by WBMRI in the study group. Histopathologically, the CSs were predominantly grade 1 and were, except for in two patients, located at the truncus, proximal femur, and shoulder girdle. Based on the current material and literature review, the risk of CS seems to be in the range of 2-3.7% for MHE and up to 50% for EC patients. CONCLUSIONS MRI may be used as a screening method detecting malignant transformation in MHE and EC patients, but the efficacy has to be confirmed in long-term follow-up studies including cost analysis.

中文翻译：

---

全身MRI评估多发性遗传性骨赘和内生软骨病的恶性转化：审核结果​​和文献复习。

目的分析全身性磁共振成像（WBMRI）对多发性遗传性外生性（MHE）和内生软骨病（EC）患者的年度筛查结果，并评估这些疾病转化为软骨肉瘤（CS）的风险。材料与方法采用253例WBMRI（平均每例4例WBMRI），在4.6年（范围1-10年）的平均随访期间，共筛查了62例患者（57例MHE和5例EC）。 10）进行回顾性分析。WBMRIs的时间与诊断为CS的日期进行了比较。进行了针对恶性转化风险的补充文献综述。结果参加筛查程序之前，有10例患者患有CS，其中9例患有MHE，1例患有EC。通过筛查发现了3例无症状CS。1例EC患者，2例MHE患者，其中1例曾患有CS。在筛选期间，在研究组中没有发生WBMRI未检测到的CS。在组织病理学上，CSs主要为1级，除两名患者外，CSs位于小腿，股骨近端和肩带。根据目前的材料和文献回顾，对于MHE，CS的患病风险似乎在2-3.7％范围内，对于EC患者则高达50％。结论MRI可以作为MHE和EC患者恶性转化的筛查方法，但其有效性必须在包括成本分析在内的长期随访研究中得到证实。在组织病理学上，CSs主要为1级，除两名患者外，CSs位于小腿，股骨近端和肩带。根据目前的材料和文献回顾，对于MHE，CS的患病风险似乎在2-3.7％范围内，对于EC患者则高达50％。结论MRI可以作为MHE和EC患者恶性转化的筛查方法，但其有效性必须在包括成本分析在内的长期随访研究中得到证实。在组织病理学上，CSs主要为1级，除两名患者外，CSs位于小腿，股骨近端和肩带。根据当前的材料和文献回顾，对于MHE，CS的患病风险似乎在2-3.7％范围内，对于EC患者则高达50％。结论MRI可以作为MHE和EC患者恶性转化的筛查方法，但其有效性必须在包括成本分析在内的长期随访研究中得到证实。