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Molecular Diagnostics of Acute Myeloblastic Leukemia

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Book cover Molecular Aspects of Hematologic Malignancies

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Abstract

Acute myeloblastic leukemia (AML) is a genetically heterogeneous disorder. In approximately 60 % of cases specific recurrent chromosomal aberrations can be identified by modern cytogenetic methods, which enable risk stratification. In these AML subgroups, molecular diagnostics serve as an additional tool to confirm and complement cytogenetic data. In the remaining 40 % of AML cases, with normal karyotype (NK), as well as in core binding factor leukemias (CBF-AMLs), molecular techniques enable the identification of intragenic aberrations and gene expression markers, which further differentiate prognosis of AML. In addition to molecular risk stratification established at the moment of diagnosis, minimal residual disease (MRD) assessment by means of highly sensitive real-time quantitative polymerase chain reaction (RQ-PCR) provides a basis for therapeutic decisions in the course of disease.

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Libura, M., Filip, A.A., Haus, O. (2012). Molecular Diagnostics of Acute Myeloblastic Leukemia. In: Witt, M., Dawidowska, M., Szczepanski, T. (eds) Molecular Aspects of Hematologic Malignancies. Principles and Practice. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-29467-9_24

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