Acute Myelogenous Leukemia (AML) is a heterogenous disorder characterized by the inhibition of myeloid differentiation in hematopoietic progenitor cells.1 It is one of the most common types of leukemia among adults. This type of cancer is rare under age 40. Median age of patients with AML is 63 years.2 Clinically, patients present with fever, fatigue, and spontaneous mucosal and cutaneous bleeding, and frequently have opportunistic infections such as fungi and Pseudomonas.1 Most patients with AML achieve complete remission after chemotherapy and/or stem cell transplantation (SCT). 2 Unfortunately, the relapse is associated with high mortality rate with five year survival rates of approximately 50%.2 The most common cause of death is bone marrow failure resulting in anemia, neutropenia, and thrombocytopenia.1 Currently, AML is diagnosed based on a combination of morphology, cytochemistry, flow cytometry and cytogenetics.1 The most important prognostic information in adult AML is karyotype.2 However, approximately 50% of AML patients lack chromosomal aberrations, and for these patients molecular genetic approaches are of major importance. 2
In addition to chromosomal translocations, numerous mutations are associated with AML, and they are frequently found in cytogenetically normal (CN) AML.3 However, to date only diagnosis of NPM1, CEBPA and FLT3 mutations have entered clinical practice and are used as tools for diagnosis, prognosis and therapy assessment.3 Discovery of these mutations has been shown to be of major importance, they are important diagnostic as well as prognostic markers. NPM1 is nuclear-cytoplasmic shuttling phosphoprotein with pleiotropic functions. Mutations lead to abnormal cytoplasmic loc...
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...ournal of Clinical Oncology. 2011.29.5:475-486.
4. Garcia-Manero G.,Gore D.S.,at all. Phase I Study of Oral Azacitidine in Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, and Acute Myeloid Leukemia. Journal of Clinical Oncology. 2011.29:2521-3537.
5. Parkin B.,Ouillette P., at all. NF1 Inactivation in Adult Acute Myelogenous Leukemia. Clin Cancer Res. 2010. 16(16):4135-4147.
6. Jonge H.J.M.,Huls G.,Bont E. Gene Expression Profiling in Acute Myeloid Leukemia. The Journal of Medicine. 2011. 69(4):167-176.
7. European Leukemia Net. URL:http://www.leukemia-net.org/content/e58/e480/e6041/e6619/index_eng.html
8. Valk P.,Verhaek R.,at.all. Prognostically Useful Gene-Expression Profiles in Acute Myeloid Leukemia. The New England Journal of Medicine. 2004. 350(16):1617-1628.
9. http://www.skyline-diagnostics.com/products/amlprofiler/three-days-to-diagnosis/