IMAGENS EM HEMATOLOGIA IMAGES IN HEMATOLOGY
Translocation t(8;21)(q22;q22) in Acute Myeloid Leukaemia
Translocação t(8;21)(q22;q22) em Leucemia Mielóide Aguda
Lidiane C. Rueda; Maristela Zocca; Gislaine B. Oliveira; Carmen S. P. Lima
Haematology and Haemotherapy Centre of Campinas, State University of Campinas, Campinas, São Paulo, Brazil
Correspondence Correspondence to Carmen Silvia Passos Lima, MD, PhD Hemocentro Unicamp Cidade Universitária "Zeferino Vaz" Caixa Postal 6198, Cep: 13083-970 Campinas, SP Brazil Phone: + 55 19 3788-8740 Fax: + 55 19 3788-8600
The reciprocal translocation between chromosomes 8 and 21 with breakpoints in 8q22 and 21q22 was first reported by Rowley, in 1973, 1 in a subgroup of patients with acute myeloid leukaemia (AML).
It soon turned out that most t(8;21)(q22;q22) cases were LMA subtype M2; only occasional leukaemias with this abnormality have been classified as subtype M1 or, even more rarely, subtype M4. 2
The 8;21-translocation appears to be more frequent in the young and is rare beyond the age of 50 years. 3 It is the most frequent structural anomaly in AML overall, occurring in nearly 15% of all FAB-classified cases and in 40% of AML diagnosed as M2. 4
The translocation results in the generation on the derivative chromosome 8 of a consistent hybrid gene, ETO-AML-1, 5 that encodes a novel message for haematopoietic cell proliferation.
Since high complete remission rates as well as their duration 6 have generally been found in AML subtype M2 patients with t(8;21)(q22;q22) treated with conventional chemotherapy regimens, this translocation has been considered as a prognostic indicator of favourable outcomes.
Herein, we present for educational purposes, the images obtained from bone marrow cytological and cytogenetics analyses (Figures 1 and 2) of a AML subtype M2 case seen at the Haematology and Haemotherapy Centre of the State University in Campinas.
References
1. Rowley JD. Identification of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Genet 1973; 16:109-112.
2. Groupe Francais de Cytogénétique Hématologique. Acute myelogenous leukaemia with an 8;21 translocation. A report on 148 cases from the Groupe Francais de Cytogénétique Hématologique. Cancer Genet Cytogenet 1990;44:169-179.
3. Petkovic I, Konja J, Nakic M. Cytogenetic analysis in children with acute non-lymphocytic leukemia. Cancer Genet Cytogenet 1992;58:155-159.
4. Mitelman F, Heim S. Quantitative acute leukemia cytogenetics. Genes Chromosomes Cancer 1992;5:57-66.
5. Downing JR, Head DR, Cursio-Brint AM et al. An AML1/ETO fusion transcript is consistently detected by RNA-based polymerase chain reaction in acute myelogenous leukemia containing the t(8;21)(q22;q22) translocation. Blood 1993; 81:2860-2865.
6. Marosi C, Köller U, Köller-Webber E et al. Prognostic impact of karyotype and immunologic phenotype in 125 adult patients with de novo AML. Cancer Genet Cytogenet 1992;61:14-25.
Recebido: 16/12/2003
Aceito após modificações: 02/01/2004
Avaliação: Editor e dois revisores externos.
Conflito de interesse: não declarado
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Publication Dates
-
Publication in this collection
19 July 2004 -
Date of issue
Mar 2004