Absence of IDH1-R132H mutation predicts rapid progression of nonenhancing diffuse glioma in older adults

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• 作者：Adriana Olar ; MD^a ; ^{aolar@tmhs.org} ; Aditya Raghunathan ; MD ; MPH^a ; Constance T. Albarracin ; MD ; PhD^b ; Kenneth D. Aldape ; MD^b ; Daniel P. Cahill III ; MD ; PhD^c ; Suzanne Z. Powell ; MD^a ; J. Clay Goodman ; MD^d ; Gregory N. Fuller ; MD ; PhD^b
• 关键词：Nonenhancing ; Glioma ; IDH1-R132H ; Older adults ; Prognosis
• 刊名：Annals of Diagnostic Pathology
• 出版年：2012
• 期刊代码：15_10929134
• 类别：med
• 出版时间：June, 2012
• 卷：16
• 期：3
• 页码：161-170
• 文件大小：1656 K

摘要

Advanced age and contrast enhancement portend a poor prognosis in diffuse glioma (DG). Diffuse glioma may present as nonenhancing tumors that rapidly progress in weeks to months to a pattern of ring enhancement, characteristic of glioblastoma (GBM). Mutations involving isocitrate dehydrogenase 1 (IDH1) have recently emerged as important diagnostic and prognostic markers in DG. R132H is the most common mutation, expressed in more than 80%of DG and secondary GBM but in less than 10%of primary GBM. Adults older than 50 years with nonenhancing, rapidly progressing DG were identified. A comparison group comprised randomly selected, age-matched patients with nonenhancing, nonprogressing DG. Isocitrate dehydrogenase 1 status was evaluated using anti-IDH1-R132H antibodies (Dianova, Hamburg, Germany). The results were correlated with the clinical outcomes. We identified 4 patients who presented with nonenhancing DG that rapidly progressed to ring-enhancing lesions that were subsequently diagnosed on surgical resection as GBM. This group showed absent IDH1-R132H expression, which is characteristic of primary GBM. The comparison group of 5 patients presented with nonenhancing, nonprogressing DG, and all 5 tumors showed IDH1-R132H expression. In conclusion, negative IDH1-R132H mutation status in nonenhancing DG of older adults is a poor prognostic factor associated with rapid progression to ring-enhancing GBM. The shorter interval of progression and negative IDH1-R132H mutation status suggest a similar molecular pathway as seen in primary GBM.