Ollier disease (OD), acute myeloid leukemia (AML), and brain glioma (BG) are three apparently completely different neoplasms in terms of histopathology, clinic, natural history, and management, but they can affect the same patient. This study aimed to identify the common molecular pathways involved in the pathogenesis of all three diseases and discuss their current and potential role as therapeutic targets. A detailed and comprehensive systematic literature review according to PRISMA guidelines on OD patients harboring BG and/or AML was made. In addition, the unique case of a patient affected by all three considered diseases has been added to our case series. Demographic, pathological, treatment, and outcome data were analyzed and discussed, mainly focusing on the molecular findings. Twenty-eight studies reported thirty-three patients affected by OD and BG, and only one study reported one patient with OD and AML, while only our patient harbored all three pathologies. The IDH R132H mutation was the only genetic alteration shared by all three pathologies and was simultaneously detected in enchondromas and brain glioma in 100% (3/3) of OD patients with BG and also in the neoplastic blood cells of the single patient hosting all three diseases. The IDH1-R132H gene mutation is the etiopathogenetic common denominator among three apparently different tumors coexisting in the same patient. The adoption of mutant-specific IDH1 inhibitor molecules could represent a potential panacea for these conditions in the era of targeted therapies. Further studies with larger clinical series are needed to confirm our results and hypothesis.
奥利埃病、急性髓系白血病和脑胶质瘤在组织病理学、临床表现、自然病程及治疗管理方面看似截然不同的三种肿瘤，却可发生于同一患者。本研究旨在揭示这三种疾病发病机制中共同的分子通路，并探讨其作为治疗靶点的现状与潜力。我们依据PRISMA指南对同时罹患脑胶质瘤和/或急性髓系白血病的奥利埃病患者进行了全面系统的文献综述，并将一例同时患有三种疾病的独特病例纳入本病例系列。研究重点分析讨论了人口学特征、病理学数据、治疗方案及预后信息，尤其聚焦于分子生物学发现。文献检索显示：28项研究报道了33例奥利埃病合并脑胶质瘤患者，仅1项研究报道了1例奥利埃病合并急性髓系白血病患者，而同时罹患三种疾病的病例仅见本组报道。IDH R132H突变是三种疾病共有的唯一遗传学改变：在奥利埃病合并脑胶质瘤患者中，该突变同时见于内生软骨瘤和脑胶质瘤的比例达100%（3/3）；在同时患三种疾病的患者中，该突变亦存在于肿瘤性血细胞。IDH1-R132H基因突变是同一患者体内三种表型迥异肿瘤共同的病因学基础。在靶向治疗时代，采用突变特异性IDH1抑制剂分子可能成为治疗此类疾病的有效策略。未来需要更大规模的临床研究来验证本研究的结论与假说。
Ollier Disease, Acute Myeloid Leukemia, and Brain Glioma: IDH as the Common Denominator
肿瘤(癌症)患者之家