Rapid identification of <i>IDH1</i> and <i>IDH2</i> mutations in acute myeloid leukaemia using high resolution melting curve analysis

Noordermeer, Sylvie M.; Tönnissen, Evelyn; Vissers, Inge; Heijden, A. van der; Locht, Louis T. van de; Deutz-Terlouw, P P; Marijt, Erik W.A.; Jansen, Joop H.; Reijden, Bert A. van der

doi:10.1111/j.1365-2141.2010.08423.x

Cited by 8 publications

(6 citation statements)

References 10 publications

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“…Patients were characterized for NPM1, CEBPA, IDH1, and IDH2 mutations, FLT3-internal tandem duplications (FLT3-ITD), tyrosine kinase domain mutations (FLT3-TKD [D835]), and MLL partial tandem duplications (MLL-PTD), as described previously. [14][15][16] An independent validation cohort of 196 younger (Ͻ 60 years) CN-AML patients was provided by the German-Austrian AML Study Group (AMLSG; trials AMLSG-HD98A [NCT00146120] 17 and AMLSG 07-04 [NCT00151242]). This patient group was characterized for the gene mutations previously mentioned, and for TET2, ASXL1, DNMT3A, RUNX1, and WT1 mutations.…”

Section: Patientsmentioning

confidence: 99%

High expression of lymphoid enhancer-binding factor-1 (LEF1) is a novel favorable prognostic factor in cytogenetically normal acute myeloid leukemia

Metzeler

Heilmeier

Edmaier

et al. 2012

Blood

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Lymphoid enhancer-binding factor-1 (LEF1) is a key transcription factor of Wnt signaling. We recently showed that aberrant LEF1 expression induces acute myeloid leukemia (AML) in mice, and found high LEF1 expression in a subset of cytogenetically normal AML (CN-AML) patients. Whether LEF1 expression associates with clinical and molecular patient characteristics and treatment outcomes remained unknown. We therefore studied LEF1 expression in 210 adults with CN-AML treated on German AML Cooperative Group trials using microarrays. High LEF1 expression (LEF1 high ) associated with significantly better relapse-free survival (RFS; P < .001), overall survival (OS; P < .001), and event-free survival (EFS; P < .001). In multivariable analyses adjusting for established prognosticators, LEF1 high status remained associated with prolonged RFS (P ‫؍‬ .007), OS (P ‫؍‬ .01), and EFS (P ‫؍‬ .003). In an independent validation cohort of 196 CN-AML patients provided by the German-Austrian AML Study Group, LEF1 high patients had significantly longer OS (P ‫؍‬ .02) and EFS (P ‫؍‬ .04). We validated the prognostic relevance of LEF1 expression by quantitative PCR, thereby providing a clinically applicable platform to incorporate this marker into future risk-stratification systems for CN-AML. Gene-expression profiling and immunophenotyping revealed upregulation of lymphopoiesis-related genes and lymphoid cell-surface antigens in LEF1 high patients. In summary, we provide evidence that high LEF1 expression is a novel favorable prognostic marker in

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Section: Patientsmentioning

confidence: 99%

High expression of lymphoid enhancer-binding factor-1 (LEF1) is a novel favorable prognostic factor in cytogenetically normal acute myeloid leukemia

Metzeler

Heilmeier

Edmaier

et al. 2012

Blood

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“…The most popular method is direct sequencing (Abbas et al, 2010;Andersson et al, 2011). In addition, single-strand conformation polymorphism-based assays (Kang et al, 2009;Zou et al, 2010) and real-time PCR with post-PCR fluorescence melting curve analysis assays (Lin et al, 2011;Noordermeer et al, 2011) were also used. The immunohistochemistry with the anti-IDH1 R132H antibody (Kato et al, 2009;Byers et al, 2012) allows the observation of IDH1 R132H-positive cells in the clinical samples and leads to diffused staining by the antibody in almost every single cell of IDH1 R132H-positive tumor.…”

Section: Discussionmentioning

confidence: 99%

Mutation Analysis of Isocitrate Dehydrogenase in Acute Lymphoblastic Leukemia

Zhang

Wei

Tang

et al. 2012

Genetic Testing and Molecular Biomarkers

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“…20 These researchers also identified IDH1 and IDH2 mutations with 100% sensitivity, and their assay also showed both a low frequency of false positive results and a similar analytic sensitivity (ϳ10%).…”

Section: A New Technique Makes the Recipe More Robustmentioning

confidence: 91%

“…Both the Dutch study 20 and the Patel et al 11 study (reported in the present issue of JMD) are important for multiple reasons. First, both studies outline a method to screen for two prognostically important mutations in AML.…”

Section: Ease and Applicability Make The Technique Widely Usefulmentioning

confidence: 92%