Department of Rheumatology, National Reference Center for Rare Bone Disease in Adults, Lariboisière Hospital, APHP.Nord, France; Inserm U1132, BIOSCAR, F-75010 Paris, Université Paris Cité, Paris, France.
Department of Rheumatology, National Reference Center for Rare Bone Disease in Adults, Lariboisière Hospital, APHP.Nord, France; Inserm U1132, BIOSCAR, F-75010 Paris, Université Paris Cité, Paris, France.
Bone. 2024 Nov;188:117221. doi: 10.1016/j.bone.2024.117221. Epub 2024 Aug 2.
Ollier Disease (OD) and Maffucci syndrome (MS) is a rare bone disorder that affects the growth and development of the bones, with an estimated prevalence of 1 in 100,000 people. It is associated with somatic mosaicism of isocitrate dehydrogenase-1 (IDH1) or 2 (IDH2) pathogenic variants. Ivosidenib is indicated for the treatment of acute myeloid leukemia and locally advanced or metastatic cholangiocarcinoma and is currently investigated in low-grade glioma with a susceptible isocitrate dehydrogenase-1 (IDH1) pathogenic variant, but its effects in patients with OD or MS are unknown. We here report the first case of a patient with MS who was treated with Ivosidenib for recurrent IDH-1 mutated glioma. Besides the stabilization of the tumor size, the patient observed significant improvement in his enchondromas that became stiffer, with reduced pain, and significant modification of the mineralization of the enchondromas observed on X-rays. This first case report provides hope for the medical management of patients suffering because of OD or MS. Future clinical research is urgently needed to evaluate long-term benefit risk profile of IDH inhibitors in these rare diseases.
奥利耶病（OD）和马富西综合征（MS）是一种罕见的骨骼疾病，影响骨骼的生长和发育，估计患病率为每 10 万人中有 1 人。它与异柠檬酸脱氢酶 1（IDH1）或 2（IDH2）致病性变异的体细胞镶嵌有关。依维莫司用于治疗急性髓系白血病、局部晚期或转移性胆管癌，目前正在研究具有易感异柠檬酸脱氢酶 1（IDH1）致病性变异的低级别胶质瘤，但其在 OD 或 MS 患者中的作用尚不清楚。我们在此报告首例接受依维莫司治疗复发性 IDH-1 突变型神经胶质瘤的 MS 患者。除了肿瘤大小稳定外，患者还观察到软骨瘤明显改善，软骨瘤变硬，疼痛减轻，X 光片上观察到的软骨瘤矿化明显改变。首例病例报告为 OD 或 MS 患者的治疗提供了希望。迫切需要开展未来的临床研究，以评估 IDH 抑制剂在这些罕见疾病中的长期获益风险特征。
