[An analysis of cytogenetic characteristics and prognosis of 189 t (8; 21) acute myeloid leukemia patients].
ABSTRACT To investigate the cytogenetic and prognostic significance of acute myeloid leukemia (AML) with t (8; 21).
189 patients with t (8; 21) AML were categorized according to their additional karyotypic aberration and their clinical outcomes analysed.
Among them, 63 patients (33.3%) were t (8; 21) without other additional aberrations, 126 cases (66.7%) were t (8; 21) with other additional aberrations. -Y was found in 46.7% (63/135) of the male and -X was found in 25.9% (14/54) of female patients. In additional aberrations, loss of the sex chromosome were found in 77 cases (61.1%), Del (9q) was found in 16 cases (12.7%), +4 was found in 5 cases (4.0%); 7q- was found in 6 cases (4.8%); Tetraploidy (4N) was found in 2 cases (1.6%); Variant translocation was found in 7 cases (5.6%). The 189 patients had a high remission rate (87.0%) and a relatively long median survival (21.6 months). +4 and 4N were an unfavorable prognostic factors. Fluorescence in situ hybridization technique is a more sensitive and accurate method to detect t (8; 21), especially in variant translocation, complex variant translocation and masked translocation.
t (8; 21) AML is also frequently associated with additional chromosome aberrations, these aberration had influence on prognosis.
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ABSTRACT: AML1-ETO fusion gene is generated from chromosomal translocation t(8;21) mainly in acute myeloid leukemia M2 subtype (AML-M2). Its spliced variant transcript, AML1-ETO9a, rapidly induces leukemia in murine model. To evaluate its clinical significance, AML1-ETO9a expression was assessed in 118 patients with t(8;21) AML-M2, using qualitative and nested quantitative reverse transcriptase (RT)-PCR methods. These cases were accordingly divided into the AML1-ETO9a-H group (n=86, positive for qualitative RT-PCR, with higher level of AML1-ETO9a by quantitative RT-PCR) and the AML1-ETO9a-L group (n=32, negative for qualitative RT-PCR, with lower but still detectable level of AML1-ETO9a by quantitative RT-PCR). C-KIT expression was significantly increased in the AML1-ETO9a-H group, as compared with the AML1-ETO9a-L group. Of the 36 patients harboring C-KIT mutations, 32 patients overexpressed AML1-ETO9a (P=0.0209). Clinically, AML1-ETO9a-H patients exhibited significantly elevated white blood cells count, less bone marrow aberrant myelocytes, increased CD56 but decreased CD19 expression (P=0.0451, P=0.0479, P=0.0149 and P=0.0298, respectively). Moreover, AML1-ETO9a overexpression was related to short event-free and overall survival time (P=0.0072 and P=0.0076, respectively). Taken together, these data suggest that AML1-ETO9a is correlated with C-KIT overexpression/mutations and indicates poor disease outcome in t(8;21) AML-M2.Leukemia: official journal of the Leukemia Society of America, Leukemia Research Fund, U.K 06/2009; 23(9):1598-604. DOI:10.1038/leu.2009.104 · 9.38 Impact Factor
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ABSTRACT: Acute myeloid leukemia with maturation (AML-M2 based on the French-American-British classification) is often accompanied by typical chromosomal changes such as t (8;21)(q22;q22). We report a case of a 31-year-old female with a positive RUNX1/CBFA2T1 (alias AML1/ETO) fusion gene and a karyotype with a t(2;21;8)(p12;q22;q22). Although variant translocations involving chromosome region 2p12 have never been reported before, we suppose this translocation may be responsible for the clinical manifestation and prognosis of this case. The role of this complex variant translocation, as well as the possible formation mechanism, prognostic factors, and morphologic changes are discussed.Cancer genetics and cytogenetics 02/2009; 188(2):95-8. DOI:10.1016/j.cancergencyto.2008.08.007 · 1.93 Impact Factor