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Current findings for recurring mutations in acute myeloid leukemia

By Shinichiro Takahashi


The development of acute myeloid leukemia (AML) is a multistep process that requires at least two genetic abnormalities for the development of the disease. The identification of genetic mutations in AML has greatly advanced our understanding of leukemogenesis. Recently, the use of novel technologies, such as massively parallel DNA sequencing or high-resolution single-nucleotide polymorphism arrays, has allowed the identification of several novel recurrent gene mutations in AML. The aim of this review is to summarize the current findings for the identification of these gene mutations (Dnmt, TET2, IDH1/2, NPM1, ASXL1, etc.), most of which are frequently found in cytogenetically normal AML. The cooperative interactions of these molecular aberrations and their interactions with class I/II mutations are presented. The prognostic and predictive significances of these aberrations are also reviewed

Topics: Review
Publisher: BioMed Central
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Provided by: PubMed Central

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  1. (2010). al: DNMT3A Mutations in Acute Myeloid Leukemia.
  2. (2009). al: Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies. Blood
  3. (2010). al: Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature
  4. (2009). al: Recurring mutations found by sequencing an acute myeloid leukemia genome.
  5. (2008). al: The complete genome of an individual by massively parallel DNA sequencing. Nature
  6. (2008). CD: The
  7. (2002). DG: Genetics of myeloid leukemias. Annu Rev Genomics Hum Genet
  8. (2008). Diagnosis and prognosis in acute myeloid leukemia–the art of distinction.
  9. (2008). Dohner H: Molecular characterization of acute myeloid leukemia. Haematologica
  10. (2011). Downstream molecular pathways of FLT3 in the pathogenesis of acute myeloid leukemia: biology and therapeutic implications. J Hematol Oncol
  11. (2008). Epigenetics in cancer.
  12. (2002). et al: Analysis of FLT3-activating mutations in 979 patients with acute myelogenous leukemia: association with FAB subtypes and identification of subgroups with poor prognosis. Blood
  13. (2005). et al: Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype.
  14. (2011). et al: Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nat Genet
  15. (2009). et al: Mutation in TET2 in myeloid cancers.
  16. (2002). et al: Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood
  17. (2011). et al: Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia
  18. (2011). et al: TET2 mutations improve the new European LeukemiaNet risk classification of acute myeloid leukemia: a Cancer and Leukemia Group B study.
  19. (2002). JD: The roles of FLT3 in hematopoiesis and leukemia. Blood
  20. (2010). New prognostic markers in acute myeloid leukemia: perspective from the clinic. Hematology Am Soc Hematol Educ Program
  21. (2005). RL: Genetics of myeloid malignancies: pathogenetic and clinical implications.