RESUMO
Acute myeloid leukemia (AML) is a heterogeneous group of disorders with regards to its pathology and molecular genetics features. The translocation t(8;21)(q22;q22), which results in the fusion of the AML and ETO genes, is a recurrent aberration in AML, preferentially correlated with FAB- M2, and has the highest incidence in childhood AML. Because of the favorable prognosis, the evidence of the t(8;21) or the AML1-ETO fusion gene is mandatory in most of the therapy trials, allowing the stratification of the patients to the correct risk group in terms of treatment. Here, we describe a novel case of sole translocation t(10;19)(p11.2;p13) in a AML1-ETO negative AML-M2 patient. In general, this translocation is previously observed with combination of complex translocations, but sole abnormality was not previously observed. This is a novel translocation and not observed previously as a sole abnormality in any AML case. Hence, the functional role of this translocation is still unknown. Short term bone marrow culture was carried out for conventional cytogenetics and karyotype was 46, XX,t(10;19)(p11.2;p12) in all 20 metaphases analyzed. To confirm this translocation FISH with Whole chromosome paint probe was applied and results confirmed the translocation between chromosome 10 and 19. To the best of our knowledge, this is the first novel case of sole t(10;19) in a paediatric AML-M2 patient with AML-ETO negative fusion. Patient expired within a week. Therefore, the present case challenges the view that the occurrences of sole and new novel translocation require more such cases to be studied in large cohort which is generally an indication for poor prognosis.