PDF(Pubmed)
Abstract：
UNASSIGNED: Adult-type diffuse gliomas comprise IDH (isocitrate dehydrogenase)-mutant astrocytomas, IDH-mutant 1p/19q-codeleted oligodendrogliomas (ODG), and IDH-wild-type glioblastomas (GBM). GBM displays genome instability, which may result from 2 genetic events leading to massive chromosome alterations: Chromothripsis (CT) and whole-genome duplication (WGD). These events are scarcely described in IDH-mutant gliomas. The better prognosis of the latter may be related to their genome stability compared to GBM.
UNASSIGNED: Pangenomic profiles of 297 adult diffuse gliomas were analyzed at initial diagnosis using SNP arrays, including 192 GBM and 105 IDH-mutant gliomas (61 astrocytomas and 44 ODG). Tumor ploidy was assessed with Genome Alteration Print and CT events with CTLPScanner and through manual screening. Survival data were compared using the Kaplan-Meier method.
UNASSIGNED: At initial diagnosis, 37 GBM (18.7%) displayed CT versus 5 IDH-mutant gliomas (4.7%; P = .0008), the latter were all high-grade (grade 3 or 4) astrocytomas. WGD was detected at initial diagnosis in 18 GBM (9.3%) and 9 IDH-mutant gliomas (5 astrocytomas and 4 oligodendrogliomas, either low- or high-grade; 8.5%). Neither CT nor WGD was associated with overall survival in GBM or in IDH-mutant gliomas.
UNASSIGNED: CT is less frequent in IDH-mutant gliomas compared to GBM. The absence of CT in ODG and grade 2 astrocytomas might, in part, explain their genome stability and better prognosis, while CT might underlie aggressive biological behavior in some high-grade astrocytomas. WGD is a rare and early event occurring equally in IDH-mutant gliomas and GBM.
UNASSIGNED: Pangenomic profiles of 297 adult diffuse gliomas were analyzed at initial diagnosis using SNP arrays, including 192 GBM and 105 IDH-mutant gliomas (61 astrocytomas and 44 ODG). Tumor ploidy was assessed with Genome Alteration Print and CT events with CTLPScanner and through manual screening. Survival data were compared using the Kaplan-Meier method.
UNASSIGNED: At initial diagnosis, 37 GBM (18.7%) displayed CT versus 5 IDH-mutant gliomas (4.7%; P = .0008), the latter were all high-grade (grade 3 or 4) astrocytomas. WGD was detected at initial diagnosis in 18 GBM (9.3%) and 9 IDH-mutant gliomas (5 astrocytomas and 4 oligodendrogliomas, either low- or high-grade; 8.5%). Neither CT nor WGD was associated with overall survival in GBM or in IDH-mutant gliomas.
UNASSIGNED: CT is less frequent in IDH-mutant gliomas compared to GBM. The absence of CT in ODG and grade 2 astrocytomas might, in part, explain their genome stability and better prognosis, while CT might underlie aggressive biological behavior in some high-grade astrocytomas. WGD is a rare and early event occurring equally in IDH-mutant gliomas and GBM.
摘要：
■成人型弥漫性神经胶质瘤包括IDH（异柠檬酸脱氢酶）-突变型星形细胞瘤，IDH-突变型1p/19q-缺失少突胶质细胞瘤（ODG），和IDH-野生型胶质母细胞瘤(GBM)。GBM显示基因组不稳定，这可能是由2个导致大量染色体改变的遗传事件引起的：染色体增多症（CT）和全基因组复制（WGD）。这些事件在IDH突变型神经胶质瘤中几乎没有描述。与GBM相比，后者的更好预后可能与其基因组稳定性有关。
■在最初诊断时使用SNP阵列分析了297例成人弥漫性神经胶质瘤的Pangenomic概况，包括192个GBM和105个IDH突变型胶质瘤（61个星形细胞瘤和44个ODG）。使用基因组改变打印和使用CTLPScanner并通过手动筛选的CT事件评估肿瘤倍性。使用Kaplan-Meier方法比较生存数据。
■初次诊断时，37GBM（18.7%）显示CT与5IDH突变胶质瘤（4.7%；P=.0008），后者均为高级别(3级或4级)星形细胞瘤.在18GBM（9.3％）和9个IDH突变型神经胶质瘤（5个星形细胞瘤和4个少突神经胶质瘤，低档或高档；8.5%）。CT和WGD均与GBM或IDH突变型神经胶质瘤的总生存期无关。
■与GBM相比，IDH突变型神经胶质瘤中的CT频率较低。ODG和2级星形细胞瘤中没有CT，在某种程度上,解释它们的基因组稳定性和更好的预后，而CT可能是某些高级星形细胞瘤的侵袭性生物学行为的基础。WGD是在IDH突变型神经胶质瘤和GBM中同样发生的罕见且早期事件。
■在最初诊断时使用SNP阵列分析了297例成人弥漫性神经胶质瘤的Pangenomic概况，包括192个GBM和105个IDH突变型胶质瘤（61个星形细胞瘤和44个ODG）。使用基因组改变打印和使用CTLPScanner并通过手动筛选的CT事件评估肿瘤倍性。使用Kaplan-Meier方法比较生存数据。
■初次诊断时，37GBM（18.7%）显示CT与5IDH突变胶质瘤（4.7%；P=.0008），后者均为高级别(3级或4级)星形细胞瘤.在18GBM（9.3％）和9个IDH突变型神经胶质瘤（5个星形细胞瘤和4个少突神经胶质瘤，低档或高档；8.5%）。CT和WGD均与GBM或IDH突变型神经胶质瘤的总生存期无关。
■与GBM相比，IDH突变型神经胶质瘤中的CT频率较低。ODG和2级星形细胞瘤中没有CT，在某种程度上,解释它们的基因组稳定性和更好的预后，而CT可能是某些高级星形细胞瘤的侵袭性生物学行为的基础。WGD是在IDH突变型神经胶质瘤和GBM中同样发生的罕见且早期事件。
