Markevičiūtė Vėtra, Markevičiūtė Medeinė Šilenė, Stravinskas Mindaugas
Department of Orthopaedics and Traumatology, Lithuanian University of Health Sciences, Kauno klinikos, Kaunas, Lithuania.
Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Acta Med Litu. 2021;28(1):181-188. doi: 10.15388/Amed.2021.28.1.8. Epub 2021 Feb 19.
Ollier disease is the most common nonhereditary type of enchondromatosis. Enchondromas are common, usually benign intraosseous cartilaginous tumors that form near the growth plate cartilage predominantly unilaterally in the metaphyses and diaphyses of tubular bones. They usually affect the long bones of the hand, the humerus, and the tibia, followed by flat bones, such as the pelvis. The estimated prevalence of Ollier disease is 1 in 100,000 and while it is linked with somatic heterozygous mutations in IDH1 or IDH2 genes, exact etiology is unknown. The risk of malignant transformation towards chondrosarcoma is up to 30-35% and it is clinically suspected when pain and a rapid increase in the size of the lesions is seen.
We report two clinical cases of patients diagnosed with Ollier disease. In both cases transformation to chondrosarcoma was observed.
Ollier disease is a rare disorder, defined by the presence of multiple enchondromas and an asymmetric distribution of the cartilage lesions that can be extremely variable in terms of size, location, age, gender. Constant monitoring of patients is important due to the high risk of malignancy. Because the disease is very rare and the manifestations vary widely, each patient's case must be evaluated, and the treatment strategy adopted individually.
Ollier病是最常见的非遗传性内生软骨瘤病类型。内生软骨瘤很常见，通常是良性的骨内软骨肿瘤，主要在管状骨干骺端和骨干的生长板软骨附近单侧形成。它们通常影响手部的长骨、肱骨和胫骨，其次是扁平骨，如骨盆。Ollier病的估计患病率为十万分之一，虽然它与IDH1或IDH2基因的体细胞杂合突变有关，但其确切病因尚不清楚。向软骨肉瘤恶性转化的风险高达30%-35%，当出现疼痛和病变大小迅速增加时临床上会怀疑有恶变。
我们报告了两例被诊断为Ollier病的临床病例。在这两个病例中均观察到向软骨肉瘤的转化。
Ollier病是一种罕见的疾病，其特征是存在多个内生软骨瘤以及软骨病变的不对称分布，其大小、位置、年龄、性别差异极大。由于恶性风险高，对患者进行持续监测很重要。由于该疾病非常罕见且表现差异很大，必须对每个患者的病例进行评估，并单独采用治疗策略。
