整合性的瀰漫性神經膠質瘤分類系統

10.6666/ClinMed.201912_84(6).0131

李宥徵；林士傑

神經膠質瘤（glioma） ； 分類（classification） ； 異檸檬酸脫氫酶（isocitrate dehydrogenase） ； 染色體1p/19q聯合缺失（1p/19q codeletion）

臨床醫學月刊

84卷6期（2019 / 12 / 27）

794 - 797

繁體中文

神經膠質瘤（glioma）為腦部最常見之原發性惡性腫瘤，近年研究發現到異檸檬酸脫氫酶（isocitrate dehydrogenase, IDH）基因之突變與染色體1p/19q聯合缺失（1p/19q codeletion）等基因變異不但與瀰漫性神經膠質瘤之生成機轉有關，同時也對疾病預後有相當重要的影響。本文介紹了上述的基因變異，以及將這些資訊與組織型態一起納入診斷依據所架構成的整合性分類系統。

1. Brat, DJ,VerhaaN, RG,Aldape, KD(2015).Comprehensive, integrative genomicanalysis of diffuse lower grade gliomas.N Engl J Med,372,2481-2498.
2. Dang, L,White, DW,Gross, S(2009).Cancer-associated IDH1 mutations produce 2-hydroxyglutarate.Nature,462,739-744.
3. Hartmann, C,Hentschel, B,Wick, W(2010).Patients with IDH1 wild type anaplastic astrocytomas exhibit worse prognosis than IDH1-mutated glioblastomas, andIDH1 mutation status accounts for the unfavorable prognostic effect of higher age: implications for classification fgliomas.Acta Neuropatho l,120,707-718.
4. Lin, AL,Liu, J,Evans, J(2014).Codeletions at 1p and 19q predict a lower risk of pseudoprogression in oligodendrogliomas and mixed oligoastrocytomas.Neuro Oncol,16,123-130.
5. Louis, DN,Ohgaki, H,Wiestler, OD(2016).WHO Classification of Tumours of the Central Nervous System.Lyon(France):IARC press.
6. Louis, DN,Perry, A,Burger, P(2014).International Society Of Neuropathology Haarlem consensus guidelines for nervous system tumor classification and grading.Brain Pathol,24,429-435.
7. Parsons, DW,Jones, S,Zhang, X(2008).An integrated genomic analysis of human glioblastoma multiforme.Science,321,1807-1812.
8. Sabha, N,Knobbe, CB,Maganti, M(2014).Analysis of IDH mutation, 1p/19q deletion, and PTEN loss delineates prognosis in clinical low-grade diffuse gliomas.Neuro Oncol,16,914-923.
9. Watanabe, T,Nobusawa, S,Kleihues, P(2009).IDH1 mutations are early events in the development of astrocytomas and oligodendrogliomas.Am J Pathol,174,1149-1153.
10. 衛生福利部國民健康署。105年癌症登記年報 2018/12/25。