Revisiting the definition of glioma recurrence based on a phylogenetic investigation of primary and re-emerging tumor samples: a case report
Revisiting the definition of glioma recurrence based on a phylogenetic investigation of primary and re-emerging tumor samples: a case report
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基于原发性和重新出现的肿瘤样本的系统发育研究重新审视神经胶质瘤复发的定义：病例报告
DOI：
10.1007/s10014-022-00438-1
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发表时间：
2022
期刊：
影响因子：
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通讯作者：
Kishima H.
中科院分区：
文献类型：
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作者：
Umehara T;Arita H;Miya F;Achiha T;Shofuda T;Yoshioka E;Kanematsu D;Nakagawa T;Kinoshita M;Kagawa N;Fujimoto Y;Hashimoto N;Kiyokawa H;Morii E;Tsunoda T;Kanemura Y;Kishima H.
复发性肿瘤定义为源自原发性肿瘤的祖先克隆的重新出现的亚克隆。因此，它应区别于从其他克隆出现的新生肿瘤。在此，我们描述了一个例外的情况下，局部重新出现的胶质瘤没有分享原发肿瘤的遗传改变。虽然最初的肿瘤携带IDH 1和TERT基因突变以及1 p/19 q共缺失，但重新出现的肿瘤并不存在任何这些遗传异常。使用全基因组测序对肿瘤样本进行变异检测，发现原发肿瘤中的1696个突变在重新出现的肿瘤中消失，并且在重新出现的肿瘤中新检测到4591个突变。这些结果表明，初始和重新出现的肿瘤没有共享相同的克隆起源，虽然第二个肿瘤出现在邻近旧的手术腔5年后的初始手术。我们最后推测，重新出现的肿瘤可能是一个“新生胶质瘤”或“放射诱导的胶质母细胞瘤治疗后的弥漫性胶质瘤。”这个病例强调了对临床诊断为“复发性”胶质瘤病变进行分子再评估的重要性。
A recurrent tumor is defined as a re-emerging subclone originating from an ancestorial clone of the primary neoplasm. Hence, it should be distinguished from de novo tumor emerging from other clones. Herein, we describe an exceptional case in which the locally re-emerging glioma did not share genetic alterations of the primary tumor. While the initial tumor harbored mutations inIDH1andTERTgenes as well as 1p/19q codeletion, the re-emerging tumor did not present any of these genetic abnormalities. Variant calling for tumor samples using whole-genome sequencing revealed that 1696 mutations within the primary tumor faded in the re-emerging tumor, and that 4591 mutations were newly detected in the re-emerging tumor. These results suggested that the initial and re-emerging tumors did not share same clonal origins, although the second tumor appeared adjacent to the old surgical cavity 5 years after the initial surgery. We finally speculated that the re-emerging tumor could be a “de novo glioma” or “radiation-induced glioblastoma following treatment of a diffuse glioma.” This case highlights the importance of molecular re-evaluation of clinically diagnosed “recurrent” glioma lesions.