Acute myelogenous leukemia with the t(3;12)(q26;p13) translocation: case report and review of the literature

Translocations involving the EVI1/MDS1 gene at 3q26 and the TEL gene at 12p13 are comparatively common in acute leukemia, but a translocation between the two genes has been reported only in a handful of cases. We report an additional case of acute myelogenous leukemia (AML) preceded by a myelodysplastic syndrome (MDS) with the translocation t(3;12)(q26;p13) in a 36-year-old woman. The translocation was present early in the disease and long before the MDS progressed to AML 3 years after diagnosis. At the time of progression to AML, an additional chromosomal abnormality, a monosomy 22, was discovered. The patient was treated with the protocol MAQ, which comprised mitoxantrone, aracytine, and quinine, as her blasts expressed the p-glycoprotein, but she failed to obtain remission. A second treatment with the same protocol resulted in only minimal response. The patient was treated again with high-dose Ara-C and idarubicine in an attempt to achieve a response before allogeneic unrelated transplantation, but she did not respond to the treatment and died shortly thereafter. A review of the literature revealed 12 other cases of the t(3;12)(q26;p13) translocation. Characteristics of those cases are reviewed in this article.