Department of Pathology, Incheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Incheon, Republic of Korea.
Department of Pathology and Translational Genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
Cancer Genomics Proteomics. 2020 Nov-Dec;17(6):803-812. doi: 10.21873/cgp.20234.
BACKGROUND/AIM: Glioblastoma is the most malignant form of astrocytoma. The purpose of this study was to analyze the genetic characteristics of primary and recurrent glioblastomas using targeted sequencing and investigate the differences in mutational profiles between the locations of tumor recurrence.
Fourteen glioblastoma patients who developed local (n=10) or distal (n=4) recurrence were included in the study. Targeted sequencing analysis was performed using the primary (n=14) and corresponding recurrent (n=14) tumor tissue samples.
The local and distal recurrence groups showed different genetic evolutionary patterns. Most of the locally recurrent glioblastomas demonstrated concordant mutational profiles between the primary and recurrent tumors, suggesting a linear evolution. In contrast, all cases of distally recurrent glioblastomas showed changes in mutational profiles with newly acquired mutations when compared to the corresponding primary tumors, suggesting a branching evolution.
Locally and distally recurrent glioblastomas exhibit different evolutionary patterns.
背景/目的：胶质母细胞瘤是星形细胞瘤中最恶性的形式。本研究旨在通过靶向测序分析原发性和复发性胶质母细胞瘤的遗传特征，并探讨肿瘤复发部位之间突变谱的差异。
本研究纳入了 14 例发生局部（n=10）或远处（n=4）复发的胶质母细胞瘤患者。使用原发性（n=14）和相应的复发性（n=14）肿瘤组织样本进行靶向测序分析。
局部和远处复发组显示出不同的遗传进化模式。大多数局部复发性胶质母细胞瘤的原发性和复发性肿瘤之间显示出一致的突变谱，表明线性进化。相比之下，所有远处复发的胶质母细胞瘤与相应的原发性肿瘤相比，突变谱发生了变化，出现了新获得的突变，表明存在分支进化。
局部和远处复发的胶质母细胞瘤表现出不同的进化模式。
