Watanabe Gen, Fujii Yu, Hanaoka Yoshiki, Tanaka Miyuki, Iwaya Mai, Horiuchi Tetsuyoshi
Department of Neurosurgery, Shinshu University School of Medicine.
Department of Pediatrics, Shinshu University School of Medicine.
Rinsho Shinkeigaku. 2024 Jul 27;64(7):474-479. doi: 10.5692/clinicalneurol.cn-001955. Epub 2024 Jun 20.
A 21-year-old man who was diagnosed with Ollier disease at the age of 1 year developed incidental multiple gliomas at the age of 15 years. Subsequently, the multiple gliomas enlarged and the patient underwent three surgical removals. Genetic analysis revealed the IDH1 p.R132C mutation in the gliomas, and histopathology showed malignant transformation. Despite multimodality treatment, the gliomas could not be controlled, and the patient died at the age of 23 years. Ollier disease is a rare disease with IDH1/2 mutations and is often associated with gliomas. However, there are very few reports on genetic analysis of IDH1/2 mutations and long-term follow-up in Ollier disease-related gliomas. Genetic analysis of IDH mutations may contribute to the elucidation of its pathogenesis. The cross-departmental collaboration is required for long-term follow-up of Ollier disease-related gliomas.
一名1岁时被诊断为Ollier病的21岁男性在15岁时意外发生了多发性胶质瘤。随后，多发性胶质瘤增大，患者接受了三次手术切除。基因分析显示胶质瘤中存在异柠檬酸脱氢酶1（IDH1）的p.R132C突变，组织病理学显示发生了恶性转化。尽管进行了多模式治疗，但胶质瘤仍无法得到控制，患者于23岁时死亡。Ollier病是一种罕见的伴有IDH1/2突变的疾病，常与胶质瘤相关。然而，关于Ollier病相关胶质瘤中IDH1/2突变的基因分析及长期随访的报道非常少。IDH突变的基因分析可能有助于阐明其发病机制。对Ollier病相关胶质瘤进行长期随访需要跨部门协作。
