Byung-Rae Cho, Young Suk Lee, Dong-Sup Chung, Wan-Soo Yoon
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引用次数: 0
Abstract
Multicentric gliomas are rare clinical entities, and cases exhibiting distinct histological lineages despite sharing a common molecular origin are exceptionally scarce. We report a unique case of synchronous multicentric gliomas in the bilateral frontal lobes of a 59-yearold female that shared an ancestral IDH1-R132H mutation but diverged into distinct molecular trajectories. According to the 2021 World Health Organization (WHO) classification, the left frontal tumor was diagnosed as a central nervous system (CNS) WHO grade 3 oligodendroglioma characterized by 1p/19q co-deletion and CDKN2A mutation, while the right frontal tumor was identified as a CNS WHO grade 3 astrocytoma harboring ATRX and TP53 mutations. This case provides compelling evidence for the stem cell origin theory, suggesting that a common progenitor undergoes independent clonal evolution in different anatomical locations through disparate secondary genetic alterations. Our findings underscore that multicentric lesions cannot be assumed to be molecularly identical, necessitating comprehensive and individual molecular evaluation of each discrete lesion to ensure accurate prognostic stratification and the formulation of personalized therapeutic strategies in the era of integrated diagnostics.
多中心胶质瘤是罕见的临床实体,尽管具有共同的分子起源,但表现出不同组织学谱系的病例非常罕见。我们报告了一例59岁女性双侧额叶同步多中心胶质瘤的独特病例,该患者具有相同的祖先IDH1-R132H突变,但分化成不同的分子轨迹。根据世界卫生组织(WHO) 2021年的分类,左侧额叶肿瘤诊断为以1p/19q共缺失和CDKN2A突变为特征的中枢神经系统(CNS) WHO 3级少突胶质细胞瘤,右侧额叶肿瘤诊断为中枢神经系统(CNS) WHO 3级星形细胞瘤,伴有ATRX和TP53突变。这个案例为干细胞起源理论提供了强有力的证据,表明一个共同的祖细胞通过不同的次生遗传改变在不同的解剖位置经历了独立的克隆进化。我们的研究结果强调,不能假设多中心病变在分子上是相同的,需要对每个离散病变进行全面和单独的分子评估,以确保准确的预后分层,并在综合诊断时代制定个性化的治疗策略。
期刊介绍:
The Journal of Korean Neurosurgical Society (J Korean Neurosurg Soc) is the official journal of the Korean Neurosurgical Society, and published bimonthly (1st day of January, March, May, July, September, and November). It launched in October 31, 1972 with Volume 1 and Number 1. J Korean Neurosurg Soc aims to allow neurosurgeons from around the world to enrich their knowledge of patient management, education, and clinical or experimental research, and hence their professionalism. This journal publishes Laboratory Investigations, Clinical Articles, Review Articles, Case Reports, Technical Notes, and Letters to the Editor. Our field of interest involves clinical neurosurgery (cerebrovascular disease, neuro-oncology, skull base neurosurgery, spine, pediatric neurosurgery, functional neurosurgery, epilepsy, neuro-trauma, and peripheral nerve disease) and laboratory work in neuroscience.