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Clinical Utility of Microarray-Based Gene Expression Profiling in the Diagnosis and Subclassification of Leukemia: Report From the International Microarray Innovations in Leukemia Study Group

Open access
Haferlach, Torsten, Kohlmann, Alexander, Wieczorek, Lothar, Basso, Giuseppe, Kronnie, Geertruy Te, Béné, Marie-Christine, De Vos, John, Hernández, Jesus M., Hofmann, Wolf-Karsten, Mills, Ken I., Gilkes, Amanda, Chiaretti, Sabina, Shurtleff, Sheila A., Kipps, Thomas J., Rassenti, Laura Z., Yeoh, Allen E., Papenhausen, Peter R., Liu, Wei-min, Williams, P. Mickey, Foà, Robin·2010·Journal of Clinical Oncology

Abstract

Purpose: The Microarray Innovations in Leukemia study assessed the clinical utility of gene expression profiling as a single test to subtype leukemias into conventional categories of myeloid and lymphoid malignancies. Methods: The investigation was performed in 11 laboratories across three continents and included 3,334 patients. An exploratory retrospective stage I study was designed for biomarker discovery and generated whole-genome expression profiles from 2,143 patients with leukemias and myelodysplastic syndromes. The gene expression profiling–based diagnostic accuracy was further validated in a prospective second study stage of an independent cohort of 1,191 patients. Results: On the basis of 2,096 samples, the stage I study achieved 92.2% classification accuracy for all 18 distinct classes investigated (median specificity of 99.7%). In a second cohort of 1,152 prospectively collected patients, a classification scheme reached 95.6% median sensitivity and 99.8% median specificity for 14 standard subtypes of acute leukemia (eight acute lymphoblastic leukemia and six acute myeloid leukemia classes, n = 693). In 29 (57%) of 51 discrepant cases, the microarray results had outperformed routine diagnostic methods. Conclusion: Gene expression profiling is a robust technology for the diagnosis of hematologic malignancies with high accuracy. It may complement current diagnostic algorithms and could offer a reliable platform for patients who lack access to today's state-of-the-art diagnostic work-up. Our comprehensive gene expression data set will be submitted to the public domain to foster research focusing on the molecular understanding of leukemias.

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Metadata

Authors
Haferlach, T., Kohlmann, A., Wieczorek, L., Basso, G., Kronnie, G. T., Béné, M.-C., De Vos, J., Hernández, J. M., Hofmann, W.-K., Mills, K. I., Gilkes, A., Chiaretti, S., Shurtleff, S. A., Kipps, T. J., Rassenti, L. Z., Yeoh, A. E., Papenhausen, P. R., Liu, W.-M., Williams, P. M., & Foà, R.
Venue
Journal of Clinical Oncology
Published
2010-05-20
Volume
28
Issue
15
Pages
2529-2537
ISSN
  • 0732-183X (ISSN-L)
  • 1527-7755
OpenAlex
W1994041743
Cited by
654
References
36
FWCI
22.27
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: Clinical Utility of Microarray-Based Gene Expression Profiling in the Diagnosis and Subclassification of Leukemia: Report From the International Microarray Innovations in Leukemia Study Group. https://app.cochat.ai/papers/10.1200/jco.2009.23.4732
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Haferlach, T., Kohlmann, A., Wieczorek, L., Basso, G., Kronnie, G. T., Béné, M.-C., De Vos, J., Hernández, J. M., Hofmann, W.-K., Mills, K. I., Gilkes, A., Chiaretti, S., Shurtleff, S. A., Kipps, T. J., Rassenti, L. Z., Yeoh, A. E., Papenhausen, P. R., Liu, W.-M., Williams, P. M., & Foà, R. (2010). Clinical Utility of Microarray-Based Gene Expression Profiling in the Diagnosis and Subclassification of Leukemia: Report From the International Microarray Innovations in Leukemia Study Group. Journal of Clinical Oncology. https://doi.org/10.1200/jco.2009.23.4732

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.