Detection of IDH1 R132H Mutation in Acute Myeloid Leukemia by Mutation-specific Immunohistochemistry
Detection of IDH1 R132H Mutation in Acute Myeloid Leukemia by Mutation-specific Immunohistochemistry
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DOI：
10.1097/pai.0b013e31822c132e
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发表时间：
2012-01
影响因子：
1.6
通讯作者：
R. Byers;J. Hornick;E. Tholouli;J. Kutok;Scott J. Rodig
中科院分区：
文献类型：
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作者：
R. Byers;J. Hornick;E. Tholouli;J. Kutok;Scott J. Rodig
IDH1突变是存在的，但在急性髓系白血病(AML)中并不常见，尽管在胶质瘤中预后良好，但它们在AML中的临床意义尚不清楚。一些患者的IDH1基因突变与预后不良有关，而另一些患者则与预后无关。使这些分析复杂化的是，需要对白血病原始细胞中的IDH1进行测序，这在技术上具有挑战性，而且还不是常规的。突变特异性抗体能够对常规活检样本中的突变进行可靠、经济有效的检测。应用免疫组织化学方法对159例AML患者进行R132H突变特异性抗体检测，其中7例(4.4%)检测到R132H突变。阳性与中等风险细胞遗传学相关。我们的结果表明，R132H IDH1突变与AML的中等风险细胞遗传学之间存在关联，提示R132H IDH1突变可能与改善临床结局有关，并证明了使用突变特异性抗体对AML进行分型和亚型的可行性。
IDH1 mutations are present but are uncommon in acute myeloid leukemia (AML) and although prognostically favorable in gliomas their clinical significance in AML is unclear. Some have associated IDH1 mutations with inferior outcome, whereas others found no association with prognosis. Complicating these analyses is the need to sequence IDH1 from leukemic blasts, which is technically challenging and not yet routine. Mutation-specific antibodies enable robust, cost-effective detection of mutations in routine biopsy samples. Immunohistochemistry for the R132H mutation-specific antibody was performed in a tissue microarray containing 159 cases of AML, detecting the R132H mutation in 7 cases (4.4%). Positivity was associated with intermediate risk cytogenetics. Our results demonstrate an association between the R132H IDH1 mutation and intermediate risk cytogenetics in AML, suggesting that R132H IDH1 mutation may be associated with improved clinical outcome and demonstrate the feasibility of using mutation-specific antibodies to genotype and subclassify AML.