PDF(Pubmed)
Abstract：
BACKGROUND: Multiple osteochondromas is genetic disorder characterized by the formation of multiple benign cartilage-capped bone tumors, named osteochondromas, during skeletal development. The most feared complication is the secondary peripheral chondrosarcoma, a malignant cartilaginous neoplasm that arises from the chondroid cap of pre-existent osteochondromas. We conducted a retrospective cohort study on patients diagnosed and followed up from 1960 to 2019 to describe the clinical and pathological features of individuals affected by peripheral chondrosarcoma in multiple osteochondromas, to evaluate follow up information and individual outcome and to compare the results with literature. Data, including age, gender, site, histological grade, cartilage cap thickness, surgical treatments, surgical margins, genotype mutational status as well as treatment details were captured from the hospital electronic health records and from Registry of Multiple Osteochondromas. In addition, a complete histological review of all hematoxylin and eosin (H&E)-stained sections has been performed by expert pathologists.
RESULTS: One hundred five of the screened cases were included in the present study. The age at diagnosis of SPC ranges from 13 to 63, with median age at diagnosis of 34 years. The site most frequently affected by malignant degeneration was the pelvis (46 patients, 44%) with higher incidence in male patients (32 males vs.14 females). The second one was lower limbs (including femur, fibula, or tibia), identified in 35 patients. Histological information - available for 103 patients - showed: 59 patients with grade 1; 40 patients had a grade 2 and 4 patients had a grade 3. The most common surgical treatment was the complete resection, followed by debulking, amputation and partial resection. Most of cases did not have recurrence of the disease. Outcome in disease-free survival highlights that a worse course of the disease was associated with histological grade 2 or 3, and partial resection surgery. In most of analyzed cases (94%) a pathogenic variant was identified.
CONCLUSIONS: In conclusion, the present study gives an overview of the secondary peripheral chondrosarcomas, confirming that this disease represents an impacting complication for multiple osteochondromas patients and suggests that malignant transformation can occur also in younger patient, in a not irrelevant number of cases.
RESULTS: One hundred five of the screened cases were included in the present study. The age at diagnosis of SPC ranges from 13 to 63, with median age at diagnosis of 34 years. The site most frequently affected by malignant degeneration was the pelvis (46 patients, 44%) with higher incidence in male patients (32 males vs.14 females). The second one was lower limbs (including femur, fibula, or tibia), identified in 35 patients. Histological information - available for 103 patients - showed: 59 patients with grade 1; 40 patients had a grade 2 and 4 patients had a grade 3. The most common surgical treatment was the complete resection, followed by debulking, amputation and partial resection. Most of cases did not have recurrence of the disease. Outcome in disease-free survival highlights that a worse course of the disease was associated with histological grade 2 or 3, and partial resection surgery. In most of analyzed cases (94%) a pathogenic variant was identified.
CONCLUSIONS: In conclusion, the present study gives an overview of the secondary peripheral chondrosarcomas, confirming that this disease represents an impacting complication for multiple osteochondromas patients and suggests that malignant transformation can occur also in younger patient, in a not irrelevant number of cases.
摘要：
背景：多发性骨软骨瘤是一种遗传性疾病，其特征是形成多个良性软骨覆盖的骨肿瘤，骨软骨瘤,在骨骼发育过程中。最可怕的并发症是继发性外周软骨肉瘤，由先前存在的骨软骨瘤的软骨帽引起的恶性软骨瘤。我们对1960年至2019年诊断和随访的患者进行了一项回顾性队列研究，以描述多发性骨软骨瘤受周围软骨肉瘤影响的个体的临床和病理特征。评估随访信息和个体结局，并将结果与文献进行比较。数据,包括年龄,性别,site,组织学分级,软骨帽厚度，手术治疗,手术切缘,我们从医院电子健康记录和多发性骨软骨瘤登记处获取了基因型突变状态和治疗细节.此外,病理学家对所有苏木精和伊红(H&E)染色切片进行了完整的组织学检查.
结果：本研究纳入了105例筛查病例。诊断SPC的年龄范围为13至63岁，诊断时的中位年龄为34岁。最常受到恶性变性影响的部位是骨盆（46例，44%)，男性患者发病率较高(男性32例，女性14例)。第二个是下肢（包括股骨，腓骨,或胫骨)，在35名患者中确定。组织学信息-可用于103名患者-显示：59名患者为1级;40名患者为2级，4名患者为3级。最常见的手术治疗是完全切除，接着是剔除，截肢和部分切除。大多数病例没有复发。无病生存的结果突出表明，病程较差与组织学2级或3级以及部分切除手术有关。在大多数分析病例（94％）中，发现了致病变异。
结论：结论：本研究概述了继发性外周软骨肉瘤，确认这种疾病代表了多个骨软骨瘤患者的影响并发症，并表明恶性转化也可能发生在年轻患者中，在一些并非无关紧要的案件中。
结果：本研究纳入了105例筛查病例。诊断SPC的年龄范围为13至63岁，诊断时的中位年龄为34岁。最常受到恶性变性影响的部位是骨盆（46例，44%)，男性患者发病率较高(男性32例，女性14例)。第二个是下肢（包括股骨，腓骨,或胫骨)，在35名患者中确定。组织学信息-可用于103名患者-显示：59名患者为1级;40名患者为2级，4名患者为3级。最常见的手术治疗是完全切除，接着是剔除，截肢和部分切除。大多数病例没有复发。无病生存的结果突出表明，病程较差与组织学2级或3级以及部分切除手术有关。在大多数分析病例（94％）中，发现了致病变异。
结论：结论：本研究概述了继发性外周软骨肉瘤，确认这种疾病代表了多个骨软骨瘤患者的影响并发症，并表明恶性转化也可能发生在年轻患者中，在一些并非无关紧要的案件中。
